TECPR2 (tectonin beta-propeller repeat containing 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: TECPR2 (tectonin beta-propeller repeat containing 2) Homo sapiens
Analyze
Symbol: TECPR2
Name: tectonin beta-propeller repeat containing 2
RGD ID: 1316735
HGNC Page HGNC:19957
Description: Involved in protein exit from endoplasmic reticulum. Predicted to be located in cytoplasm. Implicated in hereditary spastic paraplegia 49.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HSAN9; KIAA0297; KIAA0329; SPG49; tectonin beta-propeller repeat-containing protein 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814102,362,941 - 102,502,477 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14102,362,941 - 102,502,477 (+)EnsemblGRCh38hg38GRCh38
GRCh3714102,829,278 - 102,968,814 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614101,899,131 - 102,038,570 (+)NCBINCBI36Build 36hg18NCBI36
Build 3414101,899,130 - 102,038,570NCBI
Celera1482,883,809 - 83,023,050 (+)NCBICelera
Cytogenetic Map14q32.31NCBI
HuRef1483,006,301 - 83,145,714 (+)NCBIHuRef
CHM1_114102,767,161 - 102,906,640 (+)NCBICHM1_1
T2T-CHM13v2.01496,598,536 - 96,738,379 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9205841   PMID:12477932   PMID:15342556   PMID:18029348   PMID:20301682   PMID:20562859   PMID:21873635   PMID:23176824   PMID:23439247   PMID:24957906   PMID:26431026   PMID:26542466  
PMID:27406698   PMID:28298427   PMID:28514442   PMID:28611215   PMID:29507755   PMID:30681437   PMID:32513696   PMID:33213269   PMID:33847017   PMID:33961781   PMID:34048709   PMID:34079125  
PMID:34933910   PMID:36137062   PMID:36215168   PMID:38436550  


Genomics

Comparative Map Data
TECPR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814102,362,941 - 102,502,477 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14102,362,941 - 102,502,477 (+)EnsemblGRCh38hg38GRCh38
GRCh3714102,829,278 - 102,968,814 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614101,899,131 - 102,038,570 (+)NCBINCBI36Build 36hg18NCBI36
Build 3414101,899,130 - 102,038,570NCBI
Celera1482,883,809 - 83,023,050 (+)NCBICelera
Cytogenetic Map14q32.31NCBI
HuRef1483,006,301 - 83,145,714 (+)NCBIHuRef
CHM1_114102,767,161 - 102,906,640 (+)NCBICHM1_1
T2T-CHM13v2.01496,598,536 - 96,738,379 (+)NCBIT2T-CHM13v2.0
Tecpr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912110,855,681 - 110,938,828 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12110,855,698 - 110,938,828 (+)EnsemblGRCm39 Ensembl
GRCm3812110,889,243 - 110,972,394 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12110,889,264 - 110,972,394 (+)EnsemblGRCm38mm10GRCm38
MGSCv3712112,127,474 - 112,210,604 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612111,337,071 - 111,420,201 (+)NCBIMGSCv36mm8
Celera12112,082,700 - 112,167,534 (+)NCBICelera
Cytogenetic Map12F1NCBI
cM Map1260.86NCBI
Tecpr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86135,720,765 - 135,823,187 (+)NCBIGRCr8
mRatBN7.26129,899,541 - 130,001,975 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6129,899,636 - 130,001,974 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.06135,304,536 - 135,405,865 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6135,313,008 - 135,402,814 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06145,006,755 - 145,109,606 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46135,619,756 - 135,709,731 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16135,626,017 - 135,715,922 (+)NCBI
Celera6127,467,480 - 127,569,800 (+)NCBICelera
Cytogenetic Map6q32NCBI
Tecpr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555381,661,680 - 1,732,031 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555381,658,177 - 1,733,334 (+)NCBIChiLan1.0ChiLan1.0
TECPR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v215103,516,782 - 103,653,347 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan114102,733,293 - 102,869,579 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01482,984,313 - 83,120,853 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.114102,801,962 - 102,932,587 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl14102,814,542 - 102,932,587 (+)Ensemblpanpan1.1panPan2
TECPR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1870,332,934 - 70,435,558 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl870,344,063 - 70,434,218 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha869,846,380 - 69,947,902 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0870,610,039 - 70,711,934 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl870,610,128 - 70,715,062 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1870,274,943 - 70,376,412 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0870,339,560 - 70,442,112 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0870,740,472 - 70,840,832 (+)NCBIUU_Cfam_GSD_1.0
Tecpr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244086403,591,225 - 3,670,706 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936835524,802 - 607,365 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936835525,198 - 604,685 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TECPR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.27129,278,047 - 129,319,933 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TECPR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12480,288,323 - 80,426,433 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2480,302,754 - 80,425,788 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605367,485,348 - 67,625,316 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tecpr2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247342,018,362 - 2,083,122 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247342,015,255 - 2,091,692 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TECPR2
1358 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000548770]|TECPR2-related disorder [RCV003915605]|not provided [RCV004777733] Chr14:102414778 [GRCh38]
Chr14:102881115 [GRCh37]
Chr14:14q32.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs) deletion Hereditary spastic paraplegia 49 [RCV001250490]|not provided [RCV000523486] Chr14:102428324..102428328 [GRCh38]
Chr14:102894661..102894665 [GRCh37]
Chr14:14q32.31		 pathogenic|likely pathogenic
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) deletion Hereditary spastic paraplegia 49 [RCV000032879]|not provided [RCV000386910] Chr14:102452403 [GRCh38]
Chr14:102918740 [GRCh37]
Chr14:14q32.31		 pathogenic|likely pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1 copy number loss not provided [RCV000847188] Chr14:102931119..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_014844.5(TECPR2):c.1606G>A (p.Gly536Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000549639]|Hereditary spastic paraplegia [RCV001848968]|Inborn genetic diseases [RCV002530208]|not provided [RCV001662583] Chr14:102434423 [GRCh38]
Chr14:102900760 [GRCh37]
Chr14:14q32.31		 uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 copy number loss See cases [RCV000051578] Chr14:101994084..106855405 [GRCh38]
Chr14:102460421..107263620 [GRCh37]
Chr14:101530174..106334665 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1 copy number loss See cases [RCV000051579] Chr14:102210395..104449321 [GRCh38]
Chr14:102676732..104926965 [GRCh37]
Chr14:101746485..103998010 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
NM_001172631.1(TECPR2):c.2294C>T (p.Ser765Leu) single nucleotide variant Malignant melanoma [RCV000062707] Chr14:102435111 [GRCh38]
Chr14:102901448 [GRCh37]
Chr14:101971201 [NCBI36]
Chr14:14q32.31		 not provided
NM_014844.5(TECPR2):c.1568del (p.Ser523fs) deletion Hereditary spastic paraplegia 49 [RCV000662183] Chr14:102434385 [GRCh38]
Chr14:102900722 [GRCh37]
Chr14:14q32.31		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 copy number loss See cases [RCV000133831] Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 copy number gain See cases [RCV000135410] Chr14:100309382..105987610 [GRCh38]
Chr14:100775719..106453697 [GRCh37]
Chr14:99845472..105524742 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1 copy number loss See cases [RCV000139723] Chr14:100262836..102500697 [GRCh38]
Chr14:100729173..102967034 [GRCh37]
Chr14:99798926..102036787 [NCBI36]
Chr14:14q32.2-32.31		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 copy number loss See cases [RCV000139633] Chr14:101925670..106876323 [GRCh38]
Chr14:102392007..107284531 [GRCh37]
Chr14:101461760..106355576 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 copy number loss See cases [RCV000141932] Chr14:102239422..106877229 [GRCh38]
Chr14:102705759..107285437 [GRCh37]
Chr14:101775512..106356482 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 copy number loss See cases [RCV000142453] Chr14:101665602..106855263 [GRCh38]
Chr14:102131939..107263478 [GRCh37]
Chr14:101201692..106334523 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 copy number loss See cases [RCV000143662] Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000204784]|Hereditary spastic paraplegia [RCV001847942]|Inborn genetic diseases [RCV002517387]|TECPR2-related disorder [RCV003967560]|not provided [RCV001573949]|not specified [RCV004689677] Chr14:102449828 [GRCh38]
Chr14:102916165 [GRCh37]
Chr14:14q32.31		 benign|likely benign
NM_014844.5(TECPR2):c.1802C>T (p.Pro601Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000206017]|Hereditary spastic paraplegia [RCV001847941]|not provided [RCV004714541]|not specified [RCV000443389] Chr14:102434619 [GRCh38]
Chr14:102900956 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.523A>G (p.Ile175Val) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002564218]|not provided [RCV001507859] Chr14:102414678 [GRCh38]
Chr14:102881015 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1139C>T (p.Ala380Val) single nucleotide variant Inborn genetic diseases [RCV002567980]|not provided [RCV001507861] Chr14:102431850 [GRCh38]
Chr14:102898187 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2941C>A (p.Gln981Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000229914]|Hereditary spastic paraplegia [RCV001847979]|not provided [RCV004714550]|not specified [RCV000425972] Chr14:102445813 [GRCh38]
Chr14:102912150 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.952-5G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV001085628]|Hereditary spastic paraplegia [RCV001847980]|TECPR2-related disorder [RCV003955356]|not provided [RCV000232691] Chr14:102428245 [GRCh38]
Chr14:102894582 [GRCh37]
Chr14:14q32.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014844.5(TECPR2):c.1471G>A (p.Glu491Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000225996]|Hereditary spastic paraplegia [RCV001847978]|Inborn genetic diseases [RCV002518351]|not provided [RCV003401181] Chr14:102434288 [GRCh38]
Chr14:102900625 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.1397AGA[7] (p.Lys471dup) microsatellite Hereditary spastic paraplegia 49 [RCV001081641]|Hereditary spastic paraplegia [RCV001848912]|TECPR2-related disorder [RCV003900089]|not provided [RCV000519435] Chr14:102432105..102432106 [GRCh38]
Chr14:102898442..102898443 [GRCh37]
Chr14:14q32.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014844.5(TECPR2):c.774del (p.Asp259fs) deletion Hereditary spastic paraplegia 49 [RCV001250489]|not provided [RCV000520741] Chr14:102425111 [GRCh38]
Chr14:102891448 [GRCh37]
Chr14:14q32.31		 pathogenic|likely pathogenic
NM_014844.5(TECPR2):c.242_243del (p.Val81fs) microsatellite not provided [RCV000289788] Chr14:102407358..102407359 [GRCh38]
Chr14:102873695..102873696 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.4035C>T (p.Ala1345=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001279681]|Hereditary spastic paraplegia [RCV001847227]|not specified [RCV003155385] Chr14:102497673 [GRCh38]
Chr14:102964010 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.2022C>G (p.Pro674=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278888] Chr14:102434839 [GRCh38]
Chr14:102901176 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2281G>A (p.Gly761Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278890] Chr14:102435098 [GRCh38]
Chr14:102901435 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3139A>C (p.Thr1047Pro) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278901] Chr14:102449692 [GRCh38]
Chr14:102916029 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3196C>T (p.Arg1066Cys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278903]|Inborn genetic diseases [RCV003373093]|not provided [RCV003235532] Chr14:102449749 [GRCh38]
Chr14:102916086 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3882C>T (p.Thr1294=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278909] Chr14:102497071 [GRCh38]
Chr14:102963408 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3931+32G>A single nucleotide variant not provided [RCV001548398] Chr14:102497152 [GRCh38]
Chr14:102963489 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.*7C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV001279684] Chr14:102498264 [GRCh38]
Chr14:102964601 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1270C>T (p.Pro424Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277544] Chr14:102431981 [GRCh38]
Chr14:102898318 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.351T>G (p.Leu117=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277536] Chr14:102408490 [GRCh38]
Chr14:102874827 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.952G>A (p.Ala318Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277541]|Inborn genetic diseases [RCV003382494] Chr14:102428250 [GRCh38]
Chr14:102894587 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1203C>T (p.Ser401=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277543]|Hereditary spastic paraplegia [RCV001847225] Chr14:102431914 [GRCh38]
Chr14:102898251 [GRCh37]
Chr14:14q32.31		 benign|likely benign|uncertain significance
NM_014844.5(TECPR2):c.1652A>G (p.Glu551Gly) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277549]|Inborn genetic diseases [RCV004035449]|not provided [RCV004692388] Chr14:102434469 [GRCh38]
Chr14:102900806 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.952-22T>G single nucleotide variant not provided [RCV001567220] Chr14:102428228 [GRCh38]
Chr14:102894565 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2312T>A (p.Val771Glu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000528393] Chr14:102435129 [GRCh38]
Chr14:102901466 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.225G>A (p.Lys75=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000892670]|not provided [RCV001697348] Chr14:102407343 [GRCh38]
Chr14:102873680 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.-28G>A single nucleotide variant not specified [RCV000604991] Chr14:102376694 [GRCh38]
Chr14:102843031 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2495_2498dup (p.Cys834fs) duplication Hereditary spastic paraplegia 49 [RCV003653224]|not provided [RCV000599163] Chr14:102438121..102438122 [GRCh38]
Chr14:102904458..102904459 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.1861T>G (p.Ser621Ala) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001275815]|Inborn genetic diseases [RCV003298422]|not specified [RCV000414245] Chr14:102434678 [GRCh38]
Chr14:102901015 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1492C>A (p.Gln498Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000535009] Chr14:102434309 [GRCh38]
Chr14:102900646 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1319del (p.Leu440fs) deletion Hereditary spastic paraplegia 49 [RCV000414835]|Hereditary spastic paraplegia [RCV003330660]|not provided [RCV001008810] Chr14:102432030 [GRCh38]
Chr14:102898367 [GRCh37]
Chr14:14q32.31		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 copy number gain See cases [RCV000446497] Chr14:98051841..107285437 [GRCh37]
Chr14:14q32.2-32.33		 likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_014844.5(TECPR2):c.958G>A (p.Val320Ile) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001273263]|not provided [RCV004715159]|not specified [RCV000437650] Chr14:102428256 [GRCh38]
Chr14:102894593 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.2760C>T (p.Ser920=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001273276]|not provided [RCV004716447]|not specified [RCV000445201] Chr14:102443654 [GRCh38]
Chr14:102909991 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.951+18A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV001538032]|not provided [RCV004715160]|not specified [RCV000445250] Chr14:102425309 [GRCh38]
Chr14:102891646 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1869G>A (p.Gly623=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001273268]|not provided [RCV004716446]|not specified [RCV000431434] Chr14:102434686 [GRCh38]
Chr14:102901023 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000471249]|Hereditary spastic paraplegia [RCV001848760]|not provided [RCV004705543]|not specified [RCV000435016] Chr14:102434867 [GRCh38]
Chr14:102901204 [GRCh37]
Chr14:14q32.31		 benign|likely benign
NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001273269]|not provided [RCV004703938]|not specified [RCV000421443] Chr14:102434864 [GRCh38]
Chr14:102901201 [GRCh37]
Chr14:14q32.31		 benign|likely benign
NM_014844.5(TECPR2):c.1458G>A (p.Ser486=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000863377]|not specified [RCV000443664] Chr14:102434275 [GRCh38]
Chr14:102900612 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4089G>A (p.Ala1363=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000462792]|Hereditary spastic paraplegia [RCV001848774]|TECPR2-related disorder [RCV003902561]|not provided [RCV001532748] Chr14:102498110 [GRCh38]
Chr14:102964447 [GRCh37]
Chr14:14q32.31		 benign|likely benign
NM_014844.5(TECPR2):c.2625T>C (p.Ala875=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001421056]|not specified [RCV000440241] Chr14:102440482 [GRCh38]
Chr14:102906819 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1614A>G (p.Pro538=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000461772]|Hereditary spastic paraplegia [RCV001848755]|not provided [RCV004716450]|not specified [RCV000422939] Chr14:102434431 [GRCh38]
Chr14:102900768 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.-2C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV001273257]|Hereditary spastic paraplegia [RCV001848759]|not provided [RCV004716451]|not specified [RCV000430287] Chr14:102376720 [GRCh38]
Chr14:102843057 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.-20A>C single nucleotide variant not provided [RCV004716448]|not specified [RCV000430347] Chr14:102376702 [GRCh38]
Chr14:102843039 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.2395-19C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651836]|not specified [RCV000437004] Chr14:102438003 [GRCh38]
Chr14:102904340 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1315C>T (p.Pro439Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000475318]|Hereditary spastic paraplegia [RCV001848754]|not provided [RCV004716449]|not specified [RCV000440596] Chr14:102432026 [GRCh38]
Chr14:102898363 [GRCh37]
Chr14:14q32.31		 benign
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
NM_014844.5(TECPR2):c.1260C>T (p.Ser420=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000459268]|Hereditary spastic paraplegia [RCV001848829]|TECPR2-related disorder [RCV004758019]|not provided [RCV002275060]|not specified [RCV000612323] Chr14:102431971 [GRCh38]
Chr14:102898308 [GRCh37]
Chr14:14q32.31		 benign|likely benign
NM_014844.5(TECPR2):c.3104A>G (p.Asp1035Gly) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000463006] Chr14:102449657 [GRCh38]
Chr14:102915994 [GRCh37]
Chr14:14q32.31		 uncertain significance
NC_000014.8:g.(?_102898133)_(102968818_?)dup duplication Hereditary spastic paraplegia 49 [RCV000474378] Chr14:102431796..102502481 [GRCh38]
Chr14:102898133..102968818 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1800G>A (p.Glu600=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000456195] Chr14:102434617 [GRCh38]
Chr14:102900954 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2939G>C (p.Arg980Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000467669]|Hereditary spastic paraplegia [RCV001848830]|not provided [RCV001310727] Chr14:102445811 [GRCh38]
Chr14:102912148 [GRCh37]
Chr14:14q32.31		 benign|likely benign
NM_014844.5(TECPR2):c.53A>G (p.Tyr18Cys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000467785]|Inborn genetic diseases [RCV002526420]|Intellectual disability, FRA12A type [RCV000785130] Chr14:102376774 [GRCh38]
Chr14:102843111 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3492G>A (p.Gln1164=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000475428] Chr14:102452479 [GRCh38]
Chr14:102918816 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1971C>T (p.Ala657=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000471949] Chr14:102434788 [GRCh38]
Chr14:102901125 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2199C>T (p.Ala733=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000460849]|not provided [RCV004715235] Chr14:102435016 [GRCh38]
Chr14:102901353 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000472228]|Hereditary spastic paraplegia [RCV001848807]|Inborn genetic diseases [RCV002525577]|See cases [RCV002252133]|not provided [RCV001507864]|not specified [RCV001844164] Chr14:102434798 [GRCh38]
Chr14:102901135 [GRCh37]
Chr14:14q32.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000476070]|Hereditary spastic paraplegia [RCV001848808]|Inborn genetic diseases [RCV004022706]|TECPR2-related disorder [RCV003972758]|not provided [RCV001573137]|not specified [RCV000498170] Chr14:102434461 [GRCh38]
Chr14:102900798 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance|not provided
NM_014844.5(TECPR2):c.1811C>T (p.Ala604Val) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000461143] Chr14:102434628 [GRCh38]
Chr14:102900965 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3525C>T (p.Ala1175=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001498315]|not provided [RCV003401501] Chr14:102452512 [GRCh38]
Chr14:102918849 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1606G>C (p.Gly536Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000476819]|Hereditary spastic paraplegia [RCV001848806] Chr14:102434423 [GRCh38]
Chr14:102900760 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_014844.5(TECPR2):c.1156G>A (p.Ala386Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000477270]|Hereditary spastic paraplegia [RCV001848831]|not provided [RCV004716506]|not specified [RCV000604574] Chr14:102431867 [GRCh38]
Chr14:102898204 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1415C>T (p.Thr472Ile) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000462578] Chr14:102432126 [GRCh38]
Chr14:102898463 [GRCh37]
Chr14:14q32.31		 uncertain significance
GRCh37/hg19 14q32.31-32.32(chr14:102801442-103358115)x3 copy number gain See cases [RCV000511027] Chr14:102801442..103358115 [GRCh37]
Chr14:14q32.31-32.32		 uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1 copy number loss See cases [RCV000511171] Chr14:100661319..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1 copy number loss See cases [RCV000511173] Chr14:102670706..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_014844.5(TECPR2):c.714C>T (p.Pro238=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002528740]|not specified [RCV000600262] Chr14:102425054 [GRCh38]
Chr14:102891391 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1470C>T (p.Ser490=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000862492]|Hereditary spastic paraplegia [RCV001848992]|not specified [RCV000606857] Chr14:102434287 [GRCh38]
Chr14:102900624 [GRCh37]
Chr14:14q32.31		 benign|likely benign|uncertain significance
NM_014844.5(TECPR2):c.2856G>C (p.Glu952Asp) single nucleotide variant Inborn genetic diseases [RCV003267058] Chr14:102443750 [GRCh38]
Chr14:102910087 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.952-18T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002524986]|not provided [RCV000513874] Chr14:102428232 [GRCh38]
Chr14:102894569 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4082-16G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV002531548]|not specified [RCV000602320] Chr14:102498087 [GRCh38]
Chr14:102964424 [GRCh37]
Chr14:14q32.31		 benign|likely benign
NM_014844.5(TECPR2):c.3790-18G>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV002528755]|not specified [RCV000607834] Chr14:102496961 [GRCh38]
Chr14:102963298 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.606T>C (p.Ser202=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000862126]|Hereditary spastic paraplegia [RCV001848988]|not provided [RCV004808795]|not specified [RCV000610616] Chr14:102414761 [GRCh38]
Chr14:102881098 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.3465C>A (p.Ser1155Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000538688]|Hereditary spastic paraplegia [RCV001848969]|not provided [RCV004715288] Chr14:102452452 [GRCh38]
Chr14:102918789 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.4081+8C>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV001083813]|Hereditary spastic paraplegia [RCV001849030]|TECPR2-related disorder [RCV003928110]|not provided [RCV000650298] Chr14:102497727 [GRCh38]
Chr14:102964064 [GRCh37]
Chr14:14q32.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014844.5(TECPR2):c.639-6T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV000650297] Chr14:102424973 [GRCh38]
Chr14:102891310 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3521A>G (p.Tyr1174Cys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000650296]|Inborn genetic diseases [RCV004025804] Chr14:102452508 [GRCh38]
Chr14:102918845 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3386C>A (p.Ser1129Tyr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000650295]|Hereditary spastic paraplegia [RCV001849029]|Inborn genetic diseases [RCV002531956]|Inherited spastic paresis [RCV001275265]|not provided [RCV004791680] Chr14:102450629 [GRCh38]
Chr14:102916966 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.4030C>G (p.Pro1344Ala) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000650294] Chr14:102497668 [GRCh38]
Chr14:102964005 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3991G>A (p.Gly1331Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000650293]|not provided [RCV004692033] Chr14:102497629 [GRCh38]
Chr14:102963966 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.95G>A (p.Arg32His) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000650292]|Inborn genetic diseases [RCV004025803] Chr14:102376816 [GRCh38]
Chr14:102843153 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3093T>C (p.Tyr1031=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000650300]|not provided [RCV004704167] Chr14:102449646 [GRCh38]
Chr14:102915983 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4176G>A (p.Lys1392=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000650299] Chr14:102498197 [GRCh38]
Chr14:102964534 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.348+11A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003767680]|not specified [RCV000614557] Chr14:102407477 [GRCh38]
Chr14:102873814 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1789C>T (p.Leu597Phe) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000862274]|Hereditary spastic paraplegia [RCV001848993]|not specified [RCV000614740] Chr14:102434606 [GRCh38]
Chr14:102900943 [GRCh37]
Chr14:14q32.31		 benign|likely benign
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
NM_014844.5(TECPR2):c.2578+30_2578+42del microsatellite Hereditary spastic paraplegia 49 [RCV001521435]|not provided [RCV001704798] Chr14:102438215..102438227 [GRCh38]
Chr14:102904552..102904564 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3075+18C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002528754]|not specified [RCV000600195] Chr14:102445965 [GRCh38]
Chr14:102912302 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1397AGA[4] (p.Lys470_Lys471del) microsatellite Hereditary spastic paraplegia 49 [RCV000668274] Chr14:102432106..102432111 [GRCh38]
Chr14:102898443..102898448 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del) microsatellite Hereditary spastic paraplegia 49 [RCV000665906]|not provided [RCV004692061] Chr14:102432106..102432108 [GRCh38]
Chr14:102898443..102898445 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3 copy number gain not provided [RCV000683623] Chr14:102191861..106019451 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.32(chr14:102938781-103225200)x3 copy number gain not provided [RCV000683597] Chr14:102938781..103225200 [GRCh37]
Chr14:14q32.31-32.32		 uncertain significance
NM_014844.5(TECPR2):c.3580A>G (p.Thr1194Ala) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000702367]|Inborn genetic diseases [RCV002534396] Chr14:102452567 [GRCh38]
Chr14:102918904 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1978G>A (p.Ala660Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000686842] Chr14:102434795 [GRCh38]
Chr14:102901132 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2491G>T (p.Gly831Cys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000689914] Chr14:102438118 [GRCh38]
Chr14:102904455 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1213G>A (p.Glu405Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000706786]|not provided [RCV004768595] Chr14:102431924 [GRCh38]
Chr14:102898261 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1784C>T (p.Thr595Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000690612]|Inborn genetic diseases [RCV002544883]|not provided [RCV001507863] Chr14:102434601 [GRCh38]
Chr14:102900938 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2900C>T (p.Pro967Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000707485]|Inborn genetic diseases [RCV002532877] Chr14:102443794 [GRCh38]
Chr14:102910131 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.541A>G (p.Ser181Gly) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000702995] Chr14:102414696 [GRCh38]
Chr14:102881033 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2394+4T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV000689739] Chr14:102435215 [GRCh38]
Chr14:102901552 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3797G>T (p.Gly1266Val) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000693411]|Hereditary spastic paraplegia [RCV001849058]|not provided [RCV003311881] Chr14:102496986 [GRCh38]
Chr14:102963323 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2876G>A (p.Arg959Gln) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000685587] Chr14:102443770 [GRCh38]
Chr14:102910107 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.218_219+15del deletion Hereditary spastic paraplegia 49 [RCV000691751] Chr14:102376934..102376950 [GRCh38]
Chr14:102843271..102843287 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.67A>G (p.Ile23Val) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000703457] Chr14:102376788 [GRCh38]
Chr14:102843125 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3514C>G (p.Arg1172Gly) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000706109] Chr14:102452501 [GRCh38]
Chr14:102918838 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.632G>A (p.Arg211Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000687098] Chr14:102414787 [GRCh38]
Chr14:102881124 [GRCh37]
Chr14:14q32.31		 uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) copy number gain not provided [RCV000767752] Chr14:100575917..107281934 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 copy number gain not provided [RCV000849272] Chr14:99794230..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.32(chr14:102423214-103518117)x1 copy number loss not provided [RCV000751121] Chr14:102423214..103518117 [GRCh37]
Chr14:14q32.31-32.32		 likely pathogenic
GRCh37/hg19 14q32.31(chr14:102769155-102879098)x3 copy number gain not provided [RCV000751122] Chr14:102769155..102879098 [GRCh37]
Chr14:14q32.31		 benign
GRCh37/hg19 14q32.31(chr14:102783101-102894593)x3 copy number gain not provided [RCV000751123] Chr14:102783101..102894593 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.951+274TTG[11] microsatellite not provided [RCV001665731] Chr14:102425564..102425565 [GRCh38]
Chr14:102891901..102891902 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3831C>T (p.Asn1277=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000861700]|Hereditary spastic paraplegia [RCV001849147]|not provided [RCV003884747] Chr14:102497020 [GRCh38]
Chr14:102963357 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.1085-202G>A single nucleotide variant not provided [RCV001679109] Chr14:102431594 [GRCh38]
Chr14:102897931 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1085-169T>C single nucleotide variant not provided [RCV001534351] Chr14:102431627 [GRCh38]
Chr14:102897964 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000862938]|Hereditary spastic paraplegia [RCV001849164]|TECPR2-related disorder [RCV003908182]|not provided [RCV002064460] Chr14:102497671 [GRCh38]
Chr14:102964008 [GRCh37]
Chr14:14q32.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014844.5(TECPR2):c.3981C>T (p.Arg1327=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001394097] Chr14:102497619 [GRCh38]
Chr14:102963956 [GRCh37]
Chr14:14q32.31		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1 copy number loss not provided [RCV000848417] Chr14:101627916..107147698 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_014844.5(TECPR2):c.1085-258T>C single nucleotide variant not provided [RCV001544592] Chr14:102431538 [GRCh38]
Chr14:102897875 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3640+102G>C single nucleotide variant not provided [RCV001546482] Chr14:102452729 [GRCh38]
Chr14:102919066 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2579-234C>T single nucleotide variant not provided [RCV001550320] Chr14:102440202 [GRCh38]
Chr14:102906539 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3790-8G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV000864967] Chr14:102496971 [GRCh38]
Chr14:102963308 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.3873C>T (p.His1291=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000864154] Chr14:102497062 [GRCh38]
Chr14:102963399 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3087G>A (p.Thr1029=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000866254]|TECPR2-related disorder [RCV003928385]|not provided [RCV004808909] Chr14:102449640 [GRCh38]
Chr14:102915977 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1477C>T (p.Pro493Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000866302] Chr14:102434294 [GRCh38]
Chr14:102900631 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.516A>G (p.Pro172=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000867577] Chr14:102414671 [GRCh38]
Chr14:102881008 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.933C>T (p.Leu311=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001397891] Chr14:102425273 [GRCh38]
Chr14:102891610 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2832C>T (p.Asn944=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000945268] Chr14:102443726 [GRCh38]
Chr14:102910063 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3990C>T (p.Asn1330=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000904485] Chr14:102497628 [GRCh38]
Chr14:102963965 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.423A>G (p.Lys141=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000943433] Chr14:102408562 [GRCh38]
Chr14:102874899 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.3051A>G (p.Gln1017=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001461800] Chr14:102445923 [GRCh38]
Chr14:102912260 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.726A>T (p.Leu242=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001275804] Chr14:102425066 [GRCh38]
Chr14:102891403 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.1518G>A (p.Ser506=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000904126] Chr14:102434335 [GRCh38]
Chr14:102900672 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1741C>T (p.Leu581=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000863978] Chr14:102434558 [GRCh38]
Chr14:102900895 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2700C>T (p.Ser900=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000865790] Chr14:102440557 [GRCh38]
Chr14:102906894 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.4149G>A (p.Thr1383=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000865809]|Hereditary spastic paraplegia [RCV001847061] Chr14:102498170 [GRCh38]
Chr14:102964507 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.1128C>T (p.His376=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000867931]|not provided [RCV003396515] Chr14:102431839 [GRCh38]
Chr14:102898176 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3501C>T (p.Pro1167=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000982834] Chr14:102452488 [GRCh38]
Chr14:102918825 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4218C>T (p.Asp1406=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000876456]|TECPR2-related disorder [RCV003983234] Chr14:102498239 [GRCh38]
Chr14:102964576 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4081+10C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV000865953] Chr14:102497729 [GRCh38]
Chr14:102964066 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2250G>A (p.Thr750=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000868029] Chr14:102435067 [GRCh38]
Chr14:102901404 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.846C>T (p.Cys282=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000868054] Chr14:102425186 [GRCh38]
Chr14:102891523 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.2694C>T (p.Ala898=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000882125] Chr14:102440551 [GRCh38]
Chr14:102906888 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1956C>T (p.Ser652=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001397632] Chr14:102434773 [GRCh38]
Chr14:102901110 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.762G>A (p.Thr254=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000863661]|Hereditary spastic paraplegia [RCV001847042] Chr14:102425102 [GRCh38]
Chr14:102891439 [GRCh37]
Chr14:14q32.31		 benign|uncertain significance
NM_014844.5(TECPR2):c.2553C>A (p.Val851=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000868142] Chr14:102438180 [GRCh38]
Chr14:102904517 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1140G>A (p.Ala380=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000866129] Chr14:102431851 [GRCh38]
Chr14:102898188 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.4014C>T (p.Gly1338=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000864746]|Hereditary spastic paraplegia [RCV001847055] Chr14:102497652 [GRCh38]
Chr14:102963989 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.1605C>T (p.Asn535=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000866110]|TECPR2-related disorder [RCV004758058]|not provided [RCV003884763] Chr14:102434422 [GRCh38]
Chr14:102900759 [GRCh37]
Chr14:14q32.31		 benign|likely benign
NM_014844.5(TECPR2):c.349-4A>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV000867389] Chr14:102408484 [GRCh38]
Chr14:102874821 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1334A>G (p.Asn445Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001034817] Chr14:102432045 [GRCh38]
Chr14:102898382 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2675C>T (p.Pro892Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001041760] Chr14:102440532 [GRCh38]
Chr14:102906869 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1314G>C (p.Gln438His) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001047866] Chr14:102432025 [GRCh38]
Chr14:102898362 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3399G>A (p.Thr1133=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001275824] Chr14:102450642 [GRCh38]
Chr14:102916979 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33		 pathogenic
NM_014844.5(TECPR2):c.3582G>A (p.Thr1194=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000863171]|Hereditary spastic paraplegia [RCV001849167] Chr14:102452569 [GRCh38]
Chr14:102918906 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.1173G>A (p.Thr391=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000872184] Chr14:102431884 [GRCh38]
Chr14:102898221 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2514G>C (p.Pro838=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000862887] Chr14:102438141 [GRCh38]
Chr14:102904478 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.3204G>A (p.Ala1068=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000864440]|not provided [RCV002275169] Chr14:102449757 [GRCh38]
Chr14:102916094 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3321C>T (p.Thr1107=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000866219] Chr14:102450564 [GRCh38]
Chr14:102916901 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2370C>T (p.Asp790=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000867414]|not provided [RCV003396511] Chr14:102435187 [GRCh38]
Chr14:102901524 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1872G>A (p.Ala624=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000867552]|not provided [RCV003396513] Chr14:102434689 [GRCh38]
Chr14:102901026 [GRCh37]
Chr14:14q32.31		 benign|likely benign
NM_014844.5(TECPR2):c.3486G>A (p.Thr1162=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000861841] Chr14:102452473 [GRCh38]
Chr14:102918810 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2934-9T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV000876890] Chr14:102445797 [GRCh38]
Chr14:102912134 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2695C>T (p.Leu899=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000869159] Chr14:102440552 [GRCh38]
Chr14:102906889 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2382C>T (p.Leu794=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002550557] Chr14:102435199 [GRCh38]
Chr14:102901536 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.228G>A (p.Thr76=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001469351] Chr14:102407346 [GRCh38]
Chr14:102873683 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4065C>T (p.Ser1355=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000862235]|Hereditary spastic paraplegia [RCV001849157] Chr14:102497703 [GRCh38]
Chr14:102964040 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.672A>G (p.Gly224=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000865490] Chr14:102425012 [GRCh38]
Chr14:102891349 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2280C>T (p.His760=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000862359] Chr14:102435097 [GRCh38]
Chr14:102901434 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3171C>T (p.Pro1057=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000868175] Chr14:102449724 [GRCh38]
Chr14:102916061 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3477G>A (p.Arg1159=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000865793] Chr14:102452464 [GRCh38]
Chr14:102918801 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3790-8G>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV000928447] Chr14:102496971 [GRCh38]
Chr14:102963308 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3360T>A (p.Ala1120=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000899404] Chr14:102450603 [GRCh38]
Chr14:102916940 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1926C>T (p.Val642=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277555] Chr14:102434743 [GRCh38]
Chr14:102901080 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.978C>T (p.Ser326=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000863072]|TECPR2-related disorder [RCV003955595] Chr14:102428276 [GRCh38]
Chr14:102894613 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.2934-154C>T single nucleotide variant not provided [RCV000832060] Chr14:102445652 [GRCh38]
Chr14:102911989 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3075+107C>T single nucleotide variant not provided [RCV000832061] Chr14:102446054 [GRCh38]
Chr14:102912391 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3316+112T>C single nucleotide variant not provided [RCV000832064] Chr14:102449981 [GRCh38]
Chr14:102916318 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3641-118A>G single nucleotide variant not provided [RCV000832065] Chr14:102465023 [GRCh38]
Chr14:102931360 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.4161G>A (p.Ser1387=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000870630] Chr14:102498182 [GRCh38]
Chr14:102964519 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.3182T>C (p.Val1061Ala) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000797204]|not provided [RCV001766647] Chr14:102449735 [GRCh38]
Chr14:102916072 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.-72-211A>G single nucleotide variant not provided [RCV000832026] Chr14:102376439 [GRCh38]
Chr14:102842776 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2753-103T>C single nucleotide variant not provided [RCV000832424] Chr14:102443544 [GRCh38]
Chr14:102909881 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1335C>T (p.Asn445=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000869623]|not provided [RCV003411853] Chr14:102432046 [GRCh38]
Chr14:102898383 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.1255G>A (p.Gly419Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000824257]|Inborn genetic diseases [RCV004669146] Chr14:102431966 [GRCh38]
Chr14:102898303 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.1418-236C>T single nucleotide variant not provided [RCV000829903] Chr14:102433999 [GRCh38]
Chr14:102900336 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3602C>T (p.Thr1201Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000808760]|Inborn genetic diseases [RCV002537295] Chr14:102452589 [GRCh38]
Chr14:102918926 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3793G>A (p.Ala1265Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000822130]|Inborn genetic diseases [RCV002535943] Chr14:102496982 [GRCh38]
Chr14:102963319 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.952-5G>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV001446096]|not provided [RCV004705833] Chr14:102428245 [GRCh38]
Chr14:102894582 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2330G>A (p.Ser777Asn) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000806512]|Hereditary spastic paraplegia [RCV001849110]|not provided [RCV000995260] Chr14:102435147 [GRCh38]
Chr14:102901484 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.348+256T>C single nucleotide variant not provided [RCV000831603] Chr14:102407722 [GRCh38]
Chr14:102874059 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3790-333T>C single nucleotide variant not provided [RCV000831604] Chr14:102496646 [GRCh38]
Chr14:102962983 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.622A>G (p.Thr208Ala) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000804391]|Inborn genetic diseases [RCV004028171] Chr14:102414777 [GRCh38]
Chr14:102881114 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.349-85T>C single nucleotide variant not provided [RCV000832054] Chr14:102408403 [GRCh38]
Chr14:102874740 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.480+169A>T single nucleotide variant not provided [RCV000832055] Chr14:102408788 [GRCh38]
Chr14:102875125 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-239T>C single nucleotide variant not provided [RCV000832056] Chr14:102428011 [GRCh38]
Chr14:102894348 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.2579-238G>T single nucleotide variant not provided [RCV000832057] Chr14:102440198 [GRCh38]
Chr14:102906535 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.2752+91G>A single nucleotide variant not provided [RCV000832058] Chr14:102440700 [GRCh38]
Chr14:102907037 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.2934-155C>G single nucleotide variant not provided [RCV000832059] Chr14:102445651 [GRCh38]
Chr14:102911988 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3076-62G>A single nucleotide variant not provided [RCV000832063] Chr14:102449567 [GRCh38]
Chr14:102915904 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.4189G>A (p.Ala1397Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000801377] Chr14:102498210 [GRCh38]
Chr14:102964547 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2007TGA[1] (p.Asp670del) microsatellite Hereditary spastic paraplegia 49 [RCV000802008] Chr14:102434824..102434826 [GRCh38]
Chr14:102901161..102901163 [GRCh37]
Chr14:14q32.31		 uncertain significance
GRCh37/hg19 14q32.31-32.32(chr14:102709744-103453834)x4 copy number gain not provided [RCV000848014] Chr14:102709744..103453834 [GRCh37]
Chr14:14q32.31-32.32		 uncertain significance
NM_014844.5(TECPR2):c.480+244A>G single nucleotide variant not provided [RCV000829871] Chr14:102408863 [GRCh38]
Chr14:102875200 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.2934-230T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV001538035]|not provided [RCV000829905] Chr14:102445576 [GRCh38]
Chr14:102911913 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.4082-32G>A single nucleotide variant not provided [RCV000829907] Chr14:102498071 [GRCh38]
Chr14:102964408 [GRCh37]
Chr14:14q32.31		 likely benign
NC_000014.9:g.(?_102465131)_(102465314_?)dup duplication Hereditary spastic paraplegia 49 [RCV001032915] Chr14:102931468..102931651 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.3111C>T (p.Cys1037=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000864417] Chr14:102449664 [GRCh38]
Chr14:102916001 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3498T>A (p.Pro1166=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002549563] Chr14:102452485 [GRCh38]
Chr14:102918822 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2323G>A (p.Gly775Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000822819]|Inborn genetic diseases [RCV004962862]|not provided [RCV001759619] Chr14:102435140 [GRCh38]
Chr14:102901477 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2933+259A>G single nucleotide variant not provided [RCV000826316] Chr14:102444086 [GRCh38]
Chr14:102910423 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.741C>T (p.Val247=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000862726] Chr14:102425081 [GRCh38]
Chr14:102891418 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.638+193T>G single nucleotide variant not provided [RCV000829373] Chr14:102414986 [GRCh38]
Chr14:102881323 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1085-211G>A single nucleotide variant not provided [RCV000831495] Chr14:102431585 [GRCh38]
Chr14:102897922 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1085-200C>G single nucleotide variant not provided [RCV000831496] Chr14:102431596 [GRCh38]
Chr14:102897933 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3790-188T>C single nucleotide variant not provided [RCV000831497] Chr14:102496791 [GRCh38]
Chr14:102963128 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.4082-75_4082-52dup duplication not provided [RCV000831498] Chr14:102498022..102498023 [GRCh38]
Chr14:102964359..102964360 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1085-163T>C single nucleotide variant not provided [RCV000831836] Chr14:102431633 [GRCh38]
Chr14:102897970 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3075+110A>G single nucleotide variant not provided [RCV000832062] Chr14:102446057 [GRCh38]
Chr14:102912394 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1418-165G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV001538033]|not provided [RCV000829904] Chr14:102434070 [GRCh38]
Chr14:102900407 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3640+83C>T single nucleotide variant not provided [RCV000829906] Chr14:102452710 [GRCh38]
Chr14:102919047 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3466G>A (p.Ala1156Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000811792]|Hereditary spastic paraplegia [RCV001849114]|Inborn genetic diseases [RCV004028743]|not provided [RCV004768677] Chr14:102452453 [GRCh38]
Chr14:102918790 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2971G>A (p.Gly991Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000817423] Chr14:102445843 [GRCh38]
Chr14:102912180 [GRCh37]
Chr14:14q32.31		 uncertain significance
NC_000014.9:g.(?_102407328)_(102450659_?)dup duplication Hereditary spastic paraplegia 49 [RCV001032914] Chr14:102873665..102916996 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.3618C>T (p.Thr1206=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000958396] Chr14:102452605 [GRCh38]
Chr14:102918942 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3363A>C (p.Thr1121=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001486733] Chr14:102450606 [GRCh38]
Chr14:102916943 [GRCh37]
Chr14:14q32.31		 likely benign
GRCh37/hg19 14q32.31(chr14:102871766-102926564)x3 copy number gain not provided [RCV000849060] Chr14:102871766..102926564 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.565_569del (p.Thr189fs) deletion not provided [RCV000995259] Chr14:102414716..102414720 [GRCh38]
Chr14:102881053..102881057 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.3418T>G (p.Trp1140Gly) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001248817] Chr14:102452405 [GRCh38]
Chr14:102918742 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.818G>A (p.Arg273His) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001239107]|Hereditary spastic paraplegia [RCV001847203]|Inborn genetic diseases [RCV002563934]|not provided [RCV004692284] Chr14:102425158 [GRCh38]
Chr14:102891495 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2953C>A (p.Pro985Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001226652] Chr14:102445825 [GRCh38]
Chr14:102912162 [GRCh37]
Chr14:14q32.31		 uncertain significance
GRCh37/hg19 14q32.31(chr14:102938725-103052013)x3 copy number gain not provided [RCV000845785] Chr14:102938725..103052013 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1546G>A (p.Val516Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001245739]|Inborn genetic diseases [RCV002564097] Chr14:102434363 [GRCh38]
Chr14:102900700 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.3643G>A (p.Ala1215Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001247259] Chr14:102465143 [GRCh38]
Chr14:102931480 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2453T>C (p.Val818Ala) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001247203] Chr14:102438080 [GRCh38]
Chr14:102904417 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1243T>G (p.Ser415Ala) single nucleotide variant Inborn genetic diseases [RCV003248160] Chr14:102431954 [GRCh38]
Chr14:102898291 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.531G>T (p.Gln177His) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001249279] Chr14:102414686 [GRCh38]
Chr14:102881023 [GRCh37]
Chr14:14q32.31		 not provided
NM_014844.5(TECPR2):c.1380T>A (p.Pro460=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003104660] Chr14:102432091 [GRCh38]
Chr14:102898428 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3138C>G (p.Ala1046=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003104639] Chr14:102449691 [GRCh38]
Chr14:102916028 [GRCh37]
Chr14:14q32.31		 likely benign
NC_000014.8:g.(?_102442029)_(105861009_?)del deletion Charcot-Marie-Tooth disease axonal type 2O [RCV003107388] Chr14:102442029..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_014844.5(TECPR2):c.951+274TTG[7] microsatellite not provided [RCV001567674] Chr14:102425565..102425573 [GRCh38]
Chr14:102891902..102891910 [GRCh37]
Chr14:14q32.31		 likely benign
NC_000014.8:g.(?_102228231)_(105861009_?)dup duplication Charcot-Marie-Tooth disease axonal type 2O [RCV003107389]|Herpes simplex encephalitis, susceptibility to, 3 [RCV004579596] Chr14:102228231..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_014844.5(TECPR2):c.3476G>T (p.Arg1159Leu) single nucleotide variant not provided [RCV003318259] Chr14:102452463 [GRCh38]
Chr14:102918800 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.220-290C>T single nucleotide variant not provided [RCV001559879] Chr14:102407048 [GRCh38]
Chr14:102873385 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2934-311C>T single nucleotide variant not provided [RCV001560241] Chr14:102445495 [GRCh38]
Chr14:102911832 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3640+235A>G single nucleotide variant not provided [RCV001583581] Chr14:102452862 [GRCh38]
Chr14:102919199 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3790-200C>G single nucleotide variant not provided [RCV001561051] Chr14:102496779 [GRCh38]
Chr14:102963116 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2807C>T (p.Pro936Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001832800]|Inborn genetic diseases [RCV004039477]|not provided [RCV001589361] Chr14:102443701 [GRCh38]
Chr14:102910038 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.*253T>G single nucleotide variant not provided [RCV001589457] Chr14:102498510 [GRCh38]
Chr14:102964847 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1085-247A>G single nucleotide variant not provided [RCV001717397] Chr14:102431549 [GRCh38]
Chr14:102897886 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1085-233T>C single nucleotide variant not provided [RCV001723176] Chr14:102431563 [GRCh38]
Chr14:102897900 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1085-292G>A single nucleotide variant not provided [RCV001555986] Chr14:102431504 [GRCh38]
Chr14:102897841 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1085-253T>C single nucleotide variant not provided [RCV001556173] Chr14:102431543 [GRCh38]
Chr14:102897880 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3640+114G>C single nucleotide variant not provided [RCV002284744] Chr14:102452741 [GRCh38]
Chr14:102919078 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2579-284G>A single nucleotide variant not provided [RCV001556755] Chr14:102440152 [GRCh38]
Chr14:102906489 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.639-104G>A single nucleotide variant not provided [RCV002284808] Chr14:102424875 [GRCh38]
Chr14:102891212 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.*82G>A single nucleotide variant not provided [RCV001584838] Chr14:102498339 [GRCh38]
Chr14:102964676 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4081+77A>G single nucleotide variant not provided [RCV001563199] Chr14:102497796 [GRCh38]
Chr14:102964133 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.219+272G>A single nucleotide variant not provided [RCV001544798] Chr14:102377212 [GRCh38]
Chr14:102843549 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.349-293G>A single nucleotide variant not provided [RCV001590798] Chr14:102408195 [GRCh38]
Chr14:102874532 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.639-286C>T single nucleotide variant not provided [RCV001578248] Chr14:102424693 [GRCh38]
Chr14:102891030 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1418-155G>T single nucleotide variant not provided [RCV001621894] Chr14:102434080 [GRCh38]
Chr14:102900417 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1417+3A>G single nucleotide variant not provided [RCV001532747] Chr14:102432131 [GRCh38]
Chr14:102898468 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2449G>A (p.Val817Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000861361] Chr14:102438076 [GRCh38]
Chr14:102904413 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.2847G>A (p.Ala949=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000862193]|not provided [RCV003884748] Chr14:102443741 [GRCh38]
Chr14:102910078 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3000C>T (p.Asp1000=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000908339] Chr14:102445872 [GRCh38]
Chr14:102912209 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1791C>T (p.Leu597=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000909732] Chr14:102434608 [GRCh38]
Chr14:102900945 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000861611]|Hereditary spastic paraplegia [RCV001849146] Chr14:102452461 [GRCh38]
Chr14:102918798 [GRCh37]
Chr14:14q32.31		 benign|likely benign|uncertain significance
NM_014844.5(TECPR2):c.3282G>A (p.Lys1094=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000862353] Chr14:102449835 [GRCh38]
Chr14:102916172 [GRCh37]
Chr14:14q32.31		 benign|uncertain significance
NM_014844.5(TECPR2):c.879A>G (p.Ser293=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001275807] Chr14:102425219 [GRCh38]
Chr14:102891556 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.3708A>G (p.Gly1236=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000932433] Chr14:102465208 [GRCh38]
Chr14:102931545 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3603G>A (p.Thr1201=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001403655]|Hereditary spastic paraplegia [RCV001847082] Chr14:102452590 [GRCh38]
Chr14:102918927 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2901G>A (p.Pro967=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000875034] Chr14:102443795 [GRCh38]
Chr14:102910132 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.999G>A (p.Ser333=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000862688] Chr14:102428297 [GRCh38]
Chr14:102894634 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.2655G>T (p.Arg885=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000862217] Chr14:102440512 [GRCh38]
Chr14:102906849 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1833A>G (p.Thr611=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000866577] Chr14:102434650 [GRCh38]
Chr14:102900987 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3955C>T (p.Leu1319=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001474702] Chr14:102497593 [GRCh38]
Chr14:102963930 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3640+10C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV000875322]|TECPR2-related disorder [RCV003908315] Chr14:102452637 [GRCh38]
Chr14:102918974 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.72G>A (p.Pro24=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000953807] Chr14:102376793 [GRCh38]
Chr14:102843130 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3507C>T (p.Ala1169=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000867118] Chr14:102452494 [GRCh38]
Chr14:102918831 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.723G>A (p.Arg241=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000975874] Chr14:102425063 [GRCh38]
Chr14:102891400 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[3] microsatellite Hereditary spastic paraplegia 49 [RCV000861008] Chr14:102438214..102438215 [GRCh38]
Chr14:102904551..102904552 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.717G>A (p.Gly239=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000867374]|TECPR2-related disorder [RCV003938280] Chr14:102425057 [GRCh38]
Chr14:102891394 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3345T>G (p.Arg1115=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001416265] Chr14:102450588 [GRCh38]
Chr14:102916925 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3549G>A (p.Ala1183=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000867441]|TECPR2-related disorder [RCV003955650]|not provided [RCV003396512] Chr14:102452536 [GRCh38]
Chr14:102918873 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3261T>C (p.Gly1087=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001498817] Chr14:102449814 [GRCh38]
Chr14:102916151 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3108G>A (p.Gln1036=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000861493] Chr14:102449661 [GRCh38]
Chr14:102915998 [GRCh37]
Chr14:14q32.31		 benign|uncertain significance
NM_014844.5(TECPR2):c.3999C>T (p.Leu1333=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000863877] Chr14:102497637 [GRCh38]
Chr14:102963974 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2970C>T (p.Leu990=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278899] Chr14:102445842 [GRCh38]
Chr14:102912179 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4116G>T (p.Pro1372=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000864097]|not provided [RCV001840757] Chr14:102498137 [GRCh38]
Chr14:102964474 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3294C>T (p.His1098=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000865491]|TECPR2-related disorder [RCV003928380] Chr14:102449847 [GRCh38]
Chr14:102916184 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1785G>A (p.Thr595=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000882675] Chr14:102434602 [GRCh38]
Chr14:102900939 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1803G>A (p.Pro601=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV000982027] Chr14:102434620 [GRCh38]
Chr14:102900957 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4033G>C (p.Ala1345Pro) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001248819] Chr14:102497671 [GRCh38]
Chr14:102964008 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.384T>C (p.Asn128=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001242004] Chr14:102408523 [GRCh38]
Chr14:102874860 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.2442C>T (p.Leu814=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002067842]|not provided [RCV001172080] Chr14:102438069 [GRCh38]
Chr14:102904406 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2829del (p.Asn944fs) deletion Hereditary spastic paraplegia 49 [RCV001250127] Chr14:102443722 [GRCh38]
Chr14:102910059 [GRCh37]
Chr14:14q32.31		 pathogenic|likely pathogenic
NM_014844.5(TECPR2):c.566C>T (p.Thr189Ile) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001250479] Chr14:102414721 [GRCh38]
Chr14:102881058 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3072G>A (p.Trp1024Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001230412] Chr14:102445944 [GRCh38]
Chr14:102912281 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.1792G>A (p.Gly598Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001240009]|Inborn genetic diseases [RCV003373082] Chr14:102434609 [GRCh38]
Chr14:102900946 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.2128_2131del (p.Glu710fs) microsatellite Hereditary spastic paraplegia 49 [RCV001205722] Chr14:102434940..102434943 [GRCh38]
Chr14:102901277..102901280 [GRCh37]
Chr14:14q32.31		 pathogenic
NC_000014.9:g.(?_102376712)_(102376950_?)del deletion Hereditary spastic paraplegia 49 [RCV001031312] Chr14:102843049..102843287 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.483G>A (p.Gly161=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001431449] Chr14:102414638 [GRCh38]
Chr14:102880975 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3628C>G (p.Leu1210Val) single nucleotide variant not provided [RCV003235999] Chr14:102452615 [GRCh38]
Chr14:102918952 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1085-281dup duplication not provided [RCV001549474] Chr14:102431509..102431510 [GRCh38]
Chr14:102897846..102897847 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.*36G>A single nucleotide variant not provided [RCV001552676] Chr14:102498293 [GRCh38]
Chr14:102964630 [GRCh37]
Chr14:14q32.31		 likely benign
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33		 pathogenic
NM_014844.5(TECPR2):c.3789+112G>A single nucleotide variant not provided [RCV001554939] Chr14:102465401 [GRCh38]
Chr14:102931738 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-21T>G single nucleotide variant not provided [RCV001544805] Chr14:102428229 [GRCh38]
Chr14:102894566 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3317-116T>C single nucleotide variant not provided [RCV001564366] Chr14:102450444 [GRCh38]
Chr14:102916781 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.220-313A>G single nucleotide variant not provided [RCV001561471] Chr14:102407025 [GRCh38]
Chr14:102873362 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3881C>T (p.Thr1294Ile) single nucleotide variant not provided [RCV003480101] Chr14:102497070 [GRCh38]
Chr14:102963407 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1944_1947del (p.Thr649fs) microsatellite Hereditary spastic paraplegia 49 [RCV001836063]|not provided [RCV001008078] Chr14:102434754..102434757 [GRCh38]
Chr14:102901091..102901094 [GRCh37]
Chr14:14q32.31		 pathogenic|likely pathogenic
NM_014844.5(TECPR2):c.1085-297T>C single nucleotide variant not provided [RCV001695925] Chr14:102431499 [GRCh38]
Chr14:102897836 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.2395-256G>A single nucleotide variant not provided [RCV001719578] Chr14:102437766 [GRCh38]
Chr14:102904103 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1085-175C>T single nucleotide variant not provided [RCV001675387] Chr14:102431621 [GRCh38]
Chr14:102897958 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3317-282A>G single nucleotide variant not provided [RCV001590386] Chr14:102450278 [GRCh38]
Chr14:102916615 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1417+171AC[13] microsatellite not provided [RCV001595819] Chr14:102432298..102432299 [GRCh38]
Chr14:102898635..102898636 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.219+242G>A single nucleotide variant not provided [RCV001592242] Chr14:102377182 [GRCh38]
Chr14:102843519 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3075+184G>A single nucleotide variant not provided [RCV001635795] Chr14:102446131 [GRCh38]
Chr14:102912468 [GRCh37]
Chr14:14q32.31		 benign
GRCh37/hg19 14q32.31(chr14:102817076-103082442)x3 copy number gain not provided [RCV001006654] Chr14:102817076..103082442 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2753-127dup duplication not provided [RCV001611021] Chr14:102443511..102443512 [GRCh38]
Chr14:102909848..102909849 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1417+171AC[14] microsatellite not provided [RCV001650141] Chr14:102432298..102432299 [GRCh38]
Chr14:102898635..102898636 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3641-60A>G single nucleotide variant not provided [RCV001583419] Chr14:102465081 [GRCh38]
Chr14:102931418 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1085-203T>C single nucleotide variant not provided [RCV001680995] Chr14:102431593 [GRCh38]
Chr14:102897930 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3931+183G>A single nucleotide variant not provided [RCV001692637] Chr14:102497303 [GRCh38]
Chr14:102497303..102497304 [GRCh38]
Chr14:102963640 [GRCh37]
Chr14:102963640..102963641 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.2966C>T (p.Thr989Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001827529]|Hereditary spastic paraplegia [RCV001847310]|Inborn genetic diseases [RCV002573345]|not provided [RCV001580958] Chr14:102445838 [GRCh38]
Chr14:102912175 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.952-23T>G single nucleotide variant not provided [RCV001538808] Chr14:102428227 [GRCh38]
Chr14:102894564 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+257T>C single nucleotide variant not provided [RCV001679640] Chr14:102438462 [GRCh38]
Chr14:102904799 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3791C>A (p.Pro1264His) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001213422] Chr14:102496980 [GRCh38]
Chr14:102963317 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1327A>G (p.Arg443Gly) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001249280] Chr14:102432038 [GRCh38]
Chr14:102898375 [GRCh37]
Chr14:14q32.31		 uncertain significance|not provided
NM_014844.5(TECPR2):c.2414G>A (p.Gly805Asp) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001215005]|Inborn genetic diseases [RCV002562406] Chr14:102438041 [GRCh38]
Chr14:102904378 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2761G>A (p.Val921Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001247072]|Inborn genetic diseases [RCV003284125]|not provided [RCV001507865] Chr14:102443655 [GRCh38]
Chr14:102909992 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2998G>T (p.Asp1000Tyr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001249187] Chr14:102445870 [GRCh38]
Chr14:102912207 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.55CTC[1] (p.Leu20del) microsatellite Hereditary spastic paraplegia 49 [RCV001042465] Chr14:102376776..102376778 [GRCh38]
Chr14:102843113..102843115 [GRCh37]
Chr14:14q32.31		 uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 copy number loss See cases [RCV001195078] Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
NM_014844.5(TECPR2):c.2527C>T (p.Arg843Cys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001217882] Chr14:102438154 [GRCh38]
Chr14:102904491 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.142A>G (p.Ile48Val) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001235102] Chr14:102376863 [GRCh38]
Chr14:102843200 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3803G>A (p.Ser1268Asn) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001070197] Chr14:102496992 [GRCh38]
Chr14:102963329 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.715G>A (p.Gly239Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001070390]|not provided [RCV002291293] Chr14:102425055 [GRCh38]
Chr14:102891392 [GRCh37]
Chr14:14q32.31		 uncertain significance
GRCh37/hg19 14q32.31-32.32(chr14:102824097-103427144)x3 copy number gain not provided [RCV001006655] Chr14:102824097..103427144 [GRCh37]
Chr14:14q32.31-32.32		 uncertain significance
NM_014844.5(TECPR2):c.1235C>T (p.Ser412Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001040935] Chr14:102431946 [GRCh38]
Chr14:102898283 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.413A>G (p.Asn138Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001036783]|Inborn genetic diseases [RCV004669192] Chr14:102408552 [GRCh38]
Chr14:102874889 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2708C>T (p.Thr903Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001242457]|Hereditary spastic paraplegia [RCV001847206]|not specified [RCV001779140] Chr14:102440565 [GRCh38]
Chr14:102906902 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2518G>A (p.Ala840Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001062553] Chr14:102438145 [GRCh38]
Chr14:102904482 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3590A>G (p.Lys1197Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001232225] Chr14:102452577 [GRCh38]
Chr14:102918914 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.349-305dup duplication not provided [RCV001572256] Chr14:102408169..102408170 [GRCh38]
Chr14:102874506..102874507 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2839G>C (p.Val947Leu) single nucleotide variant Microcephaly [RCV001252788] Chr14:102443733 [GRCh38]
Chr14:102910070 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1417+171AC[21] microsatellite not provided [RCV001580975] Chr14:102432298..102432299 [GRCh38]
Chr14:102898635..102898636 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001257142] Chr14:102414726 [GRCh38]
Chr14:102881063 [GRCh37]
Chr14:14q32.31		 pathogenic|likely pathogenic
NM_014844.5(TECPR2):c.2234G>A (p.Arg745Gln) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278889] Chr14:102435051 [GRCh38]
Chr14:102901388 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2362G>T (p.Ala788Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278891] Chr14:102435179 [GRCh38]
Chr14:102901516 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2528G>A (p.Arg843His) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278893] Chr14:102438155 [GRCh38]
Chr14:102904492 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3515G>A (p.Arg1172His) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278905] Chr14:102452502 [GRCh38]
Chr14:102918839 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.-3G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277534]|not provided [RCV001569809] Chr14:102376719 [GRCh38]
Chr14:102843056 [GRCh37]
Chr14:14q32.31		 benign|likely benign
NM_014844.5(TECPR2):c.227C>T (p.Thr76Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277535] Chr14:102407345 [GRCh38]
Chr14:102873682 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1788A>G (p.Gly596=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277550] Chr14:102434605 [GRCh38]
Chr14:102900942 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.4082-84C>T single nucleotide variant not provided [RCV002284621] Chr14:102498019 [GRCh38]
Chr14:102964356 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4103G>A (p.Trp1368Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001290270] Chr14:102498124 [GRCh38]
Chr14:102964461 [GRCh37]
Chr14:14q32.31		 likely pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1 copy number loss not provided [RCV001259801] Chr14:102615953..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_014844.5(TECPR2):c.3830del (p.Asn1277fs) deletion Hereditary spastic paraplegia 49 [RCV001290398]|Sensory autonomic neuropathy with intellectual disability [RCV001281352] Chr14:102497018 [GRCh38]
Chr14:102963355 [GRCh37]
Chr14:14q32.31		 pathogenic|likely pathogenic
NM_014844.5(TECPR2):c.1204G>A (p.Val402Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001335673]|Inborn genetic diseases [RCV004035793] Chr14:102431915 [GRCh38]
Chr14:102898252 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3979C>T (p.Arg1327Cys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001330562] Chr14:102497617 [GRCh38]
Chr14:102963954 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.4006C>T (p.Arg1336Trp) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001290268] Chr14:102497644 [GRCh38]
Chr14:102963981 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.694dup (p.Thr232fs) duplication Hereditary spastic paraplegia 49 [RCV001290269] Chr14:102425032..102425033 [GRCh38]
Chr14:102891369..102891370 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.2490C>T (p.Gly830=) single nucleotide variant not provided [RCV004597703] Chr14:102438117 [GRCh38]
Chr14:102904454 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.976T>C (p.Ser326Pro) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001315675] Chr14:102428274 [GRCh38]
Chr14:102894611 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2395-208T>C single nucleotide variant not provided [RCV001539165] Chr14:102437814 [GRCh38]
Chr14:102904151 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1085-4T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV001422136] Chr14:102431792 [GRCh38]
Chr14:102898129 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.120C>T (p.Ala40=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001391765] Chr14:102376841 [GRCh38]
Chr14:102843178 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.318T>C (p.Leu106=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001414333] Chr14:102407436 [GRCh38]
Chr14:102873773 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1152A>G (p.Pro384=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001423207] Chr14:102431863 [GRCh38]
Chr14:102898200 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.35_36del (p.Glu12fs) microsatellite Hereditary spastic paraplegia 49 [RCV001383376] Chr14:102376752..102376753 [GRCh38]
Chr14:102843089..102843090 [GRCh37]
Chr14:14q32.31		 pathogenic|likely pathogenic
NM_014844.5(TECPR2):c.4032C>T (p.Pro1344=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001394837]|not provided [RCV003405641] Chr14:102497670 [GRCh38]
Chr14:102964007 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2934-236A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV001538034]|not provided [RCV001655832] Chr14:102445570 [GRCh38]
Chr14:102911907 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.2919G>A (p.Lys973=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001412884] Chr14:102443813 [GRCh38]
Chr14:102910150 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.141C>T (p.Tyr47=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001395138] Chr14:102376862 [GRCh38]
Chr14:102843199 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-3C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277540] Chr14:102428247 [GRCh38]
Chr14:102894584 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1372G>A (p.Val458Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277545] Chr14:102432083 [GRCh38]
Chr14:102898420 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1810G>A (p.Ala604Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277552] Chr14:102434627 [GRCh38]
Chr14:102900964 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.108C>T (p.Val36=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001396561] Chr14:102376829 [GRCh38]
Chr14:102843166 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+5G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278894] Chr14:102438210 [GRCh38]
Chr14:102904547 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1227G>A (p.Arg409=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001433921] Chr14:102431938 [GRCh38]
Chr14:102898275 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.705G>C (p.Ala235=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001397254] Chr14:102425045 [GRCh38]
Chr14:102891382 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3657A>G (p.Thr1219=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001421915] Chr14:102465157 [GRCh38]
Chr14:102931494 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2064G>A (p.Glu688=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001422038] Chr14:102434881 [GRCh38]
Chr14:102901218 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2208C>T (p.His736=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001422085] Chr14:102435025 [GRCh38]
Chr14:102901362 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2933+9G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV001434001] Chr14:102443836 [GRCh38]
Chr14:102910173 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1735C>A (p.Arg579=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001396891] Chr14:102434552 [GRCh38]
Chr14:102900889 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2415C>T (p.Gly805=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001433345] Chr14:102438042 [GRCh38]
Chr14:102904379 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2021C>T (p.Pro674Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278887]|Inborn genetic diseases [RCV003246825] Chr14:102434838 [GRCh38]
Chr14:102901175 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.2526G>T (p.Leu842=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278892] Chr14:102438153 [GRCh38]
Chr14:102904490 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2967G>A (p.Thr989=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278898] Chr14:102445839 [GRCh38]
Chr14:102912176 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.3456C>T (p.Ser1152=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278904] Chr14:102452443 [GRCh38]
Chr14:102918780 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.952-4A>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277539] Chr14:102428246 [GRCh38]
Chr14:102894583 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1643A>G (p.Asn548Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277548]|Hereditary spastic paraplegia [RCV001847226]|Inborn genetic diseases [RCV002541663] Chr14:102434460 [GRCh38]
Chr14:102900797 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.1925T>A (p.Val642Asp) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277554] Chr14:102434742 [GRCh38]
Chr14:102901079 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2785G>A (p.Val929Ile) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278895]|Inborn genetic diseases [RCV002542908] Chr14:102443679 [GRCh38]
Chr14:102910016 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2837T>C (p.Val946Ala) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278897]|not provided [RCV004769994] Chr14:102443731 [GRCh38]
Chr14:102910068 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1316C>T (p.Pro439Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001320698] Chr14:102432027 [GRCh38]
Chr14:102898364 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3704G>A (p.Gly1235Asp) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001296297] Chr14:102465204 [GRCh38]
Chr14:102931541 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.669A>C (p.Pro223=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277537]|TECPR2-related disorder [RCV003973171] Chr14:102425009 [GRCh38]
Chr14:102891346 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.754C>A (p.Gln252Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277538]|TECPR2-related disorder [RCV003938593] Chr14:102425094 [GRCh38]
Chr14:102891431 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1176G>T (p.Arg392Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277542] Chr14:102431887 [GRCh38]
Chr14:102898224 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2513C>G (p.Pro838Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001309546] Chr14:102438140 [GRCh38]
Chr14:102904477 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1825A>G (p.Asn609Asp) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277553] Chr14:102434642 [GRCh38]
Chr14:102900979 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1928C>T (p.Pro643Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001277556] Chr14:102434745 [GRCh38]
Chr14:102901082 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1318_1319del (p.Leu440fs) deletion Hereditary spastic paraplegia 49 [RCV001375676] Chr14:102432029..102432030 [GRCh38]
Chr14:102898366..102898367 [GRCh37]
Chr14:14q32.31		 pathogenic|likely pathogenic
NM_014844.5(TECPR2):c.2834A>G (p.Asn945Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278896] Chr14:102443728 [GRCh38]
Chr14:102910065 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2979G>A (p.Gln993=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278900] Chr14:102445851 [GRCh38]
Chr14:102912188 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3744C>T (p.Pro1248=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278907] Chr14:102465244 [GRCh38]
Chr14:102931581 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3548C>T (p.Ala1183Val) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278906] Chr14:102452535 [GRCh38]
Chr14:102918872 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3793G>T (p.Ala1265Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278908] Chr14:102496982 [GRCh38]
Chr14:102963319 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3913G>T (p.Ala1305Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001278910]|Inborn genetic diseases [RCV004671309] Chr14:102497102 [GRCh38]
Chr14:102963439 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.4060G>A (p.Gly1354Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001279682] Chr14:102497698 [GRCh38]
Chr14:102964035 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.4194G>A (p.Met1398Ile) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001279683]|Hereditary spastic paraplegia [RCV001847228] Chr14:102498215 [GRCh38]
Chr14:102964552 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.2712C>T (p.Ala904=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001412719] Chr14:102440569 [GRCh38]
Chr14:102906906 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2307G>A (p.Thr769=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001395675]|not provided [RCV003311985] Chr14:102435124 [GRCh38]
Chr14:102901461 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1308C>A (p.Gly436=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001421536] Chr14:102432019 [GRCh38]
Chr14:102898356 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.804T>A (p.Phe268Leu) single nucleotide variant Inborn genetic diseases [RCV002564219]|not provided [RCV001507860] Chr14:102425144 [GRCh38]
Chr14:102891481 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2967G>C (p.Thr989=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001414105] Chr14:102445839 [GRCh38]
Chr14:102912176 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2232A>G (p.Pro744=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001413004] Chr14:102435049 [GRCh38]
Chr14:102901386 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1125C>T (p.Val375=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001486560]|Hereditary spastic paraplegia [RCV001847282]|not provided [RCV004584914] Chr14:102431836 [GRCh38]
Chr14:102898173 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.354G>A (p.Arg118=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001472986] Chr14:102408493 [GRCh38]
Chr14:102874830 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.348+83A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV001538000]|not provided [RCV001673151] Chr14:102407549 [GRCh38]
Chr14:102873886 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.252G>A (p.Leu84=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001495135] Chr14:102407370 [GRCh38]
Chr14:102873707 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.459T>C (p.Tyr153=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001454420] Chr14:102408598 [GRCh38]
Chr14:102874935 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1830C>T (p.Ser610=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001398955] Chr14:102434647 [GRCh38]
Chr14:102900984 [GRCh37]
Chr14:14q32.31		 likely benign
NC_000014.8:g.(?_102899405)_102901470del deletion Hereditary spastic paraplegia 49 [RCV001377671]   likely pathogenic
NM_014844.5(TECPR2):c.3402G>A (p.Lys1134=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001498125] Chr14:102450645 [GRCh38]
Chr14:102916982 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.810G>A (p.Leu270=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001456787] Chr14:102425150 [GRCh38]
Chr14:102891487 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3450C>T (p.Ser1150=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001475000] Chr14:102452437 [GRCh38]
Chr14:102918774 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3796G>A (p.Gly1266Arg) single nucleotide variant Inborn genetic diseases [RCV004681216]|not provided [RCV001508741] Chr14:102496985 [GRCh38]
Chr14:102963322 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.9G>T (p.Ser3=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001450361] Chr14:102376730 [GRCh38]
Chr14:102843067 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.220-8T>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV001453623] Chr14:102407330 [GRCh38]
Chr14:102873667 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.735T>A (p.Ala245=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001399384] Chr14:102425075 [GRCh38]
Chr14:102891412 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2040G>A (p.Glu680=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001504433] Chr14:102434857 [GRCh38]
Chr14:102901194 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+9C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV001492415] Chr14:102438214 [GRCh38]
Chr14:102904551 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.556C>T (p.Leu186=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001499541] Chr14:102414711 [GRCh38]
Chr14:102881048 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3912C>T (p.Thr1304=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001454994] Chr14:102497101 [GRCh38]
Chr14:102963438 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2093G>A (p.Trp698Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001385005] Chr14:102434910 [GRCh38]
Chr14:102901247 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.220-4C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV001417330] Chr14:102407334 [GRCh38]
Chr14:102873671 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.132C>T (p.Asn44=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001430478] Chr14:102376853 [GRCh38]
Chr14:102843190 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3447C>T (p.Cys1149=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001404906] Chr14:102452434 [GRCh38]
Chr14:102918771 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3465C>T (p.Ser1155=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001461289] Chr14:102452452 [GRCh38]
Chr14:102918789 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.960T>C (p.Val320=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001484385] Chr14:102428258 [GRCh38]
Chr14:102894595 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3790-9C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV001496187] Chr14:102496970 [GRCh38]
Chr14:102963307 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3750C>T (p.Leu1250=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001438839] Chr14:102465250 [GRCh38]
Chr14:102931587 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2871G>A (p.Leu957=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001492588]|not provided [RCV003405687] Chr14:102443765 [GRCh38]
Chr14:102910102 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3810C>T (p.Val1270=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001492590] Chr14:102496999 [GRCh38]
Chr14:102963336 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2295A>C (p.Ser765=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001455389] Chr14:102435112 [GRCh38]
Chr14:102901449 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.171C>G (p.Leu57=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001430870] Chr14:102376892 [GRCh38]
Chr14:102843229 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2733G>A (p.Gly911=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001461775] Chr14:102440590 [GRCh38]
Chr14:102906927 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3297C>T (p.Val1099=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001492597]|not provided [RCV003399253] Chr14:102449850 [GRCh38]
Chr14:102916187 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.408C>T (p.Ser136=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001492675] Chr14:102408547 [GRCh38]
Chr14:102874884 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.486C>G (p.Leu162=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001476521] Chr14:102414641 [GRCh38]
Chr14:102880978 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1368T>C (p.Leu456=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001439024] Chr14:102432079 [GRCh38]
Chr14:102898416 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3681C>T (p.His1227=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001483478] Chr14:102465181 [GRCh38]
Chr14:102931518 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.39C>T (p.Phe13=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001476769]|TECPR2-related disorder [RCV003921007] Chr14:102376760 [GRCh38]
Chr14:102843097 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2202C>T (p.Ser734=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001475665] Chr14:102435019 [GRCh38]
Chr14:102901356 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.123C>T (p.Leu41=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001480436] Chr14:102376844 [GRCh38]
Chr14:102843181 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1695C>T (p.Asp565=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001469475] Chr14:102434512 [GRCh38]
Chr14:102900849 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1452G>T (p.Leu484=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001477093] Chr14:102434269 [GRCh38]
Chr14:102900606 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4071G>A (p.Ser1357=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001482945] Chr14:102497709 [GRCh38]
Chr14:102964046 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2859G>A (p.Gln953=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001503141] Chr14:102443753 [GRCh38]
Chr14:102910090 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.45G>A (p.Pro15=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001477265]|not provided [RCV004571019] Chr14:102376766 [GRCh38]
Chr14:102843103 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2664C>T (p.Tyr888=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001466619] Chr14:102440521 [GRCh38]
Chr14:102906858 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1085-240A>C single nucleotide variant not provided [RCV001537080] Chr14:102431556 [GRCh38]
Chr14:102897893 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.2802C>T (p.Pro934=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001497710] Chr14:102443696 [GRCh38]
Chr14:102910033 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2523G>A (p.Gly841=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001487231] Chr14:102438150 [GRCh38]
Chr14:102904487 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3759A>G (p.Pro1253=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001434226] Chr14:102465259 [GRCh38]
Chr14:102931596 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3474G>A (p.Ser1158=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001474558] Chr14:102452461 [GRCh38]
Chr14:102918798 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.642T>G (p.Thr214=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001460624] Chr14:102424982 [GRCh38]
Chr14:102891319 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3441C>T (p.Asp1147=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001463837] Chr14:102452428 [GRCh38]
Chr14:102918765 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.279A>G (p.Ala93=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001431772] Chr14:102407397 [GRCh38]
Chr14:102873734 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3641-4A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV001491807] Chr14:102465137 [GRCh38]
Chr14:102931474 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1647C>G (p.Val549=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001423921] Chr14:102434464 [GRCh38]
Chr14:102900801 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1764T>C (p.Asp588=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001466539] Chr14:102434581 [GRCh38]
Chr14:102900918 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.243G>C (p.Val81=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001493344] Chr14:102407361 [GRCh38]
Chr14:102873698 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2493C>G (p.Gly831=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001493406] Chr14:102438120 [GRCh38]
Chr14:102904457 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2655G>A (p.Arg885=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001456951] Chr14:102440512 [GRCh38]
Chr14:102906849 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3126G>A (p.Thr1042=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001506550] Chr14:102449679 [GRCh38]
Chr14:102916016 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.645G>C (p.Gly215=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001489925] Chr14:102424985 [GRCh38]
Chr14:102891322 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4056T>A (p.Ile1352=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001493458] Chr14:102497694 [GRCh38]
Chr14:102964031 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3702G>A (p.Arg1234=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001502007] Chr14:102465202 [GRCh38]
Chr14:102931539 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4188C>T (p.Ala1396=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001472743] Chr14:102498209 [GRCh38]
Chr14:102964546 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.705G>T (p.Ala235=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001454134] Chr14:102425045 [GRCh38]
Chr14:102891382 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4020A>G (p.Thr1340=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001401760] Chr14:102497658 [GRCh38]
Chr14:102963995 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1065T>G (p.Pro355=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001438374] Chr14:102428363 [GRCh38]
Chr14:102894700 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2256C>T (p.Ser752=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001409451] Chr14:102435073 [GRCh38]
Chr14:102901410 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3326G>A (p.Trp1109Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001384672] Chr14:102450569 [GRCh38]
Chr14:102916906 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.3946C>T (p.Gln1316Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001385064] Chr14:102497584 [GRCh38]
Chr14:102963921 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.744C>T (p.His248=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001438473]|not provided [RCV003883644] Chr14:102425084 [GRCh38]
Chr14:102891421 [GRCh37]
Chr14:14q32.31		 likely benign
NC_000014.8:g.(?_102891306)_(102901558_?)del deletion Hereditary spastic paraplegia 49 [RCV001389781] Chr14:102891306..102901558 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.3621G>A (p.Arg1207=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001407239] Chr14:102452608 [GRCh38]
Chr14:102918945 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+10C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV001443955] Chr14:102438215 [GRCh38]
Chr14:102904552 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2394+9del deletion Hereditary spastic paraplegia 49 [RCV001426435] Chr14:102435218 [GRCh38]
Chr14:102901555 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2757G>A (p.Leu919=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001438682] Chr14:102443651 [GRCh38]
Chr14:102909988 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.957A>T (p.Thr319=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001443829] Chr14:102428255 [GRCh38]
Chr14:102894592 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3585C>T (p.Leu1195=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001409652] Chr14:102452572 [GRCh38]
Chr14:102918909 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.231A>G (p.Glu77=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001417631] Chr14:102407349 [GRCh38]
Chr14:102873686 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2013A>G (p.Glu671=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001404976] Chr14:102434830 [GRCh38]
Chr14:102901167 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1560T>C (p.Ser520=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001444145] Chr14:102434377 [GRCh38]
Chr14:102900714 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2579-8T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV001444149] Chr14:102440428 [GRCh38]
Chr14:102906765 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2259T>C (p.Asp753=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001393229] Chr14:102435076 [GRCh38]
Chr14:102901413 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3969C>T (p.Thr1323=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001402346] Chr14:102497607 [GRCh38]
Chr14:102963944 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2508G>A (p.Ala836=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001403427] Chr14:102438135 [GRCh38]
Chr14:102904472 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4059C>T (p.Pro1353=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001428199] Chr14:102497697 [GRCh38]
Chr14:102964034 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.720C>G (p.Leu240=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001397713] Chr14:102425060 [GRCh38]
Chr14:102891397 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3246G>C (p.Gly1082=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001404963] Chr14:102449799 [GRCh38]
Chr14:102916136 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1236G>A (p.Ser412=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001410217] Chr14:102431947 [GRCh38]
Chr14:102898284 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.34G>T (p.Glu12Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001383628] Chr14:102376755 [GRCh38]
Chr14:102843092 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.2697G>A (p.Leu899=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001429082] Chr14:102440554 [GRCh38]
Chr14:102906891 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.585C>A (p.Leu195=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001440018] Chr14:102414740 [GRCh38]
Chr14:102881077 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2022C>T (p.Pro674=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001444337]|not provided [RCV004809608] Chr14:102434839 [GRCh38]
Chr14:102901176 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2172G>A (p.Gln724=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001449488] Chr14:102434989 [GRCh38]
Chr14:102901326 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2784C>T (p.Ala928=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001447220] Chr14:102443678 [GRCh38]
Chr14:102910015 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.852A>G (p.Leu284=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001403671] Chr14:102425192 [GRCh38]
Chr14:102891529 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1515G>A (p.Leu505=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001410376] Chr14:102434332 [GRCh38]
Chr14:102900669 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2373C>G (p.Ala791=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001442125] Chr14:102435190 [GRCh38]
Chr14:102901527 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3672A>C (p.Gly1224=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001398207] Chr14:102465172 [GRCh38]
Chr14:102931509 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2753-1G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV001542482] Chr14:102443646 [GRCh38]
Chr14:102909983 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.3789+1G>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV001542483] Chr14:102465290 [GRCh38]
Chr14:102931627 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.1160_1161del (p.Thr387fs) microsatellite Hereditary spastic paraplegia 49 [RCV001383927] Chr14:102431869..102431870 [GRCh38]
Chr14:102898206..102898207 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.3525C>G (p.Ala1175=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001434803] Chr14:102452512 [GRCh38]
Chr14:102918849 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2599G>T (p.Glu867Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001387583] Chr14:102440456 [GRCh38]
Chr14:102906793 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.1110A>G (p.Gly370=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001442492] Chr14:102431821 [GRCh38]
Chr14:102898158 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3015G>A (p.Leu1005=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001445004] Chr14:102445887 [GRCh38]
Chr14:102912224 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2163G>T (p.Val721=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001419242] Chr14:102434980 [GRCh38]
Chr14:102901317 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2915G>A (p.Trp972Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001386525] Chr14:102443809 [GRCh38]
Chr14:102910146 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.3804C>T (p.Ser1268=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001437716] Chr14:102496993 [GRCh38]
Chr14:102963330 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-6T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV001445213] Chr14:102428244 [GRCh38]
Chr14:102894581 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3867C>T (p.Asn1289=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001445228] Chr14:102497056 [GRCh38]
Chr14:102963393 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3789+141T>A single nucleotide variant not provided [RCV001534183] Chr14:102465430 [GRCh38]
Chr14:102931767 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3258C>T (p.Ser1086=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001408667] Chr14:102449811 [GRCh38]
Chr14:102916148 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1272C>G (p.Pro424=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001411233] Chr14:102431983 [GRCh38]
Chr14:102898320 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4185G>A (p.Gln1395=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001448022] Chr14:102498206 [GRCh38]
Chr14:102964543 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1944C>T (p.Leu648=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001400219] Chr14:102434761 [GRCh38]
Chr14:102901098 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1755G>A (p.Ala585=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001438940] Chr14:102434572 [GRCh38]
Chr14:102900909 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3060C>T (p.Asp1020=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001408586]|not provided [RCV001700743] Chr14:102445932 [GRCh38]
Chr14:102912269 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1248C>T (p.Thr416=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001447790] Chr14:102431959 [GRCh38]
Chr14:102898296 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1638G>A (p.Thr546=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001447811] Chr14:102434455 [GRCh38]
Chr14:102900792 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4011C>T (p.Tyr1337=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001424198] Chr14:102497649 [GRCh38]
Chr14:102963986 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2427C>T (p.Pro809=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001445376] Chr14:102438054 [GRCh38]
Chr14:102904391 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3495G>T (p.Leu1165=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001447961] Chr14:102452482 [GRCh38]
Chr14:102918819 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3516C>T (p.Arg1172=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001416530] Chr14:102452503 [GRCh38]
Chr14:102918840 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1884A>G (p.Glu628=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001411507] Chr14:102434701 [GRCh38]
Chr14:102901038 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3469_3470del (p.Gln1157fs) microsatellite Hereditary spastic paraplegia 49 [RCV001387120] Chr14:102452454..102452455 [GRCh38]
Chr14:102918791..102918792 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.1161A>G (p.Thr387=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001445789] Chr14:102431872 [GRCh38]
Chr14:102898209 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1629C>T (p.Asp543=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001409196] Chr14:102434446 [GRCh38]
Chr14:102900783 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4119C>T (p.Pro1373=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001401812]|not provided [RCV004728707] Chr14:102498140 [GRCh38]
Chr14:102964477 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1170G>A (p.Glu390=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001419752] Chr14:102431881 [GRCh38]
Chr14:102898218 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.570G>T (p.Leu190=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001481838] Chr14:102414725 [GRCh38]
Chr14:102881062 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1417+8C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV001505243] Chr14:102432136 [GRCh38]
Chr14:102898473 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3792C>T (p.Pro1264=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001494679]|TECPR2-related disorder [RCV003908769] Chr14:102496981 [GRCh38]
Chr14:102963318 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2451G>C (p.Val817=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001472295] Chr14:102438078 [GRCh38]
Chr14:102904415 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2181G>A (p.Pro727=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001501866] Chr14:102434998 [GRCh38]
Chr14:102901335 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1714C>G (p.His572Asp) single nucleotide variant not provided [RCV001507862] Chr14:102434531 [GRCh38]
Chr14:102900868 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2583C>G (p.Ala861=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001472755] Chr14:102440440 [GRCh38]
Chr14:102906777 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2671C>T (p.Leu891=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001450578] Chr14:102440528 [GRCh38]
Chr14:102906865 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1085-219T>C single nucleotide variant not provided [RCV001717400] Chr14:102431577 [GRCh38]
Chr14:102897914 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1704T>G (p.Thr568=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001482809]|Hereditary spastic paraplegia [RCV001847280] Chr14:102434521 [GRCh38]
Chr14:102900858 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.1417+193_1417+194insACACACACACACACACACACACACACACACA microsatellite not provided [RCV001592703] Chr14:102432298..102432299 [GRCh38]
Chr14:102898635..102898636 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3954G>A (p.Ala1318=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001502732] Chr14:102497592 [GRCh38]
Chr14:102963929 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2752+8C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV001465266]|not provided [RCV003399245] Chr14:102440617 [GRCh38]
Chr14:102906954 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2079C>G (p.Leu693=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001465307] Chr14:102434896 [GRCh38]
Chr14:102901233 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1085-252G>A single nucleotide variant not provided [RCV001593345] Chr14:102431544 [GRCh38]
Chr14:102897881 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.705G>A (p.Ala235=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001476351] Chr14:102425045 [GRCh38]
Chr14:102891382 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3132C>A (p.Ile1044=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001476513] Chr14:102449685 [GRCh38]
Chr14:102916022 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3790-309G>A single nucleotide variant not provided [RCV001691381] Chr14:102496670 [GRCh38]
Chr14:102963007 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3407-45T>C single nucleotide variant not provided [RCV001717390] Chr14:102452349 [GRCh38]
Chr14:102918686 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1180A>C (p.Arg394=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001500197] Chr14:102431891 [GRCh38]
Chr14:102898228 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2457C>G (p.Ser819=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001500028] Chr14:102438084 [GRCh38]
Chr14:102904421 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1677T>C (p.Ser559=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001455459] Chr14:102434494 [GRCh38]
Chr14:102900831 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2395-180G>C single nucleotide variant not provided [RCV001536773] Chr14:102437842 [GRCh38]
Chr14:102437842..102437843 [GRCh38]
Chr14:102904179 [GRCh37]
Chr14:102904179..102904180 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1085-242G>A single nucleotide variant not provided [RCV001587523] Chr14:102431554 [GRCh38]
Chr14:102897891 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1632C>T (p.Pro544=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001480393] Chr14:102434449 [GRCh38]
Chr14:102900786 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2937A>G (p.Glu979=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001452326] Chr14:102445809 [GRCh38]
Chr14:102912146 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2718C>T (p.Ile906=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001477441] Chr14:102440575 [GRCh38]
Chr14:102906912 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.786C>T (p.Ala262=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001452805] Chr14:102425126 [GRCh38]
Chr14:102891463 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2361T>A (p.Gly787=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001477468] Chr14:102435178 [GRCh38]
Chr14:102901515 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2752+9G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV001487897]|TECPR2-related disorder [RCV003908746] Chr14:102440618 [GRCh38]
Chr14:102906955 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3931+10T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV001453183] Chr14:102497130 [GRCh38]
Chr14:102963467 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4116G>A (p.Pro1372=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001484567]|Hereditary spastic paraplegia [RCV001847281] Chr14:102498137 [GRCh38]
Chr14:102964474 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.1869G>C (p.Gly623=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001505480] Chr14:102434686 [GRCh38]
Chr14:102901023 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1992G>T (p.Leu664=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001425216] Chr14:102434809 [GRCh38]
Chr14:102901146 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2157G>A (p.Gly719=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001452824] Chr14:102434974 [GRCh38]
Chr14:102901311 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3252T>C (p.Asn1084=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001399493] Chr14:102449805 [GRCh38]
Chr14:102916142 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.57C>T (p.Leu19=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001467012] Chr14:102376778 [GRCh38]
Chr14:102843115 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2223G>A (p.Glu741=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001467026] Chr14:102435040 [GRCh38]
Chr14:102901377 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3495G>A (p.Leu1165=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001469562] Chr14:102452482 [GRCh38]
Chr14:102918819 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2175G>A (p.Leu725=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001490235] Chr14:102434992 [GRCh38]
Chr14:102901329 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3243C>T (p.Leu1081=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001435866] Chr14:102449796 [GRCh38]
Chr14:102916133 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1734G>C (p.Gly578=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001450981] Chr14:102434551 [GRCh38]
Chr14:102900888 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.877del (p.Ser293fs) deletion Hereditary spastic paraplegia 49 [RCV001385230] Chr14:102425215 [GRCh38]
Chr14:102891552 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.2934-9T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV001399528] Chr14:102445797 [GRCh38]
Chr14:102912134 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1251C>T (p.Asp417=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001437958] Chr14:102431962 [GRCh38]
Chr14:102898299 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3570G>A (p.Val1190=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001503040] Chr14:102452557 [GRCh38]
Chr14:102918894 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3641-10T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV001473539] Chr14:102465131 [GRCh38]
Chr14:102931468 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3783T>C (p.Pro1261=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001473556] Chr14:102465283 [GRCh38]
Chr14:102931620 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1113C>T (p.Cys371=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001490863] Chr14:102431824 [GRCh38]
Chr14:102898161 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3954G>T (p.Ala1318=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001490869] Chr14:102497592 [GRCh38]
Chr14:102963929 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2514G>A (p.Pro838=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001417420] Chr14:102438141 [GRCh38]
Chr14:102904478 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1821A>G (p.Gly607=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001482965] Chr14:102434638 [GRCh38]
Chr14:102900975 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1623T>C (p.Asn541=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001486461] Chr14:102434440 [GRCh38]
Chr14:102900777 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3891C>T (p.Thr1297=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001500307] Chr14:102497080 [GRCh38]
Chr14:102963417 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4170C>G (p.Thr1390=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001501879] Chr14:102498191 [GRCh38]
Chr14:102964528 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.24T>C (p.Val8=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001457696]|TECPR2-related disorder [RCV003946193] Chr14:102376745 [GRCh38]
Chr14:102843082 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2829G>A (p.Arg943=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001477201]|not provided [RCV004546661] Chr14:102443723 [GRCh38]
Chr14:102910060 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.147G>A (p.Ala49=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001403766] Chr14:102376868 [GRCh38]
Chr14:102843205 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1872G>T (p.Ala624=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001486097] Chr14:102434689 [GRCh38]
Chr14:102901026 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1878T>C (p.Asp626=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001429487] Chr14:102434695 [GRCh38]
Chr14:102901032 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2520C>G (p.Ala840=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001392911] Chr14:102438147 [GRCh38]
Chr14:102904484 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1417+7T>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV001496827] Chr14:102432135 [GRCh38]
Chr14:102898472 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2388A>G (p.Pro796=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001497799] Chr14:102435205 [GRCh38]
Chr14:102901542 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3630C>T (p.Leu1210=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001463194] Chr14:102452617 [GRCh38]
Chr14:102918954 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2367G>A (p.Glu789=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001455922] Chr14:102435184 [GRCh38]
Chr14:102901521 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.834C>T (p.Asn278=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001459395] Chr14:102425174 [GRCh38]
Chr14:102891511 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1085-4T>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV001485168] Chr14:102431792 [GRCh38]
Chr14:102898129 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.321A>G (p.Val107=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001429900] Chr14:102407439 [GRCh38]
Chr14:102873776 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.402T>G (p.Ala134=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001451944] Chr14:102408541 [GRCh38]
Chr14:102874878 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3641-8A>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV001423705] Chr14:102465133 [GRCh38]
Chr14:102931470 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4014C>G (p.Gly1338=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001434678] Chr14:102497652 [GRCh38]
Chr14:102963989 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3795C>T (p.Ala1265=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001436671] Chr14:102496984 [GRCh38]
Chr14:102963321 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2322C>T (p.Leu774=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001419725] Chr14:102435139 [GRCh38]
Chr14:102901476 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.327A>G (p.Ser109=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001456201] Chr14:102407445 [GRCh38]
Chr14:102873782 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.726A>G (p.Leu242=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001467907] Chr14:102425066 [GRCh38]
Chr14:102891403 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1914T>C (p.Thr638=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001398245] Chr14:102434731 [GRCh38]
Chr14:102901068 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1254C>T (p.Ser418=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001436898] Chr14:102431965 [GRCh38]
Chr14:102898302 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.270C>T (p.Asp90=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001476751] Chr14:102407388 [GRCh38]
Chr14:102873725 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1563A>G (p.Ala521=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001497002] Chr14:102434380 [GRCh38]
Chr14:102900717 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2562G>A (p.Val854=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001461987] Chr14:102438189 [GRCh38]
Chr14:102904526 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.220-10G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV001426187] Chr14:102407328 [GRCh38]
Chr14:102873665 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2247G>A (p.Leu749=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001466464] Chr14:102435064 [GRCh38]
Chr14:102901401 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2235G>A (p.Arg745=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001452314] Chr14:102435052 [GRCh38]
Chr14:102901389 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3641-7T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV001462057] Chr14:102465134 [GRCh38]
Chr14:102931471 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2752+7G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV001462062] Chr14:102440616 [GRCh38]
Chr14:102906953 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2373C>T (p.Ala791=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001504040] Chr14:102435190 [GRCh38]
Chr14:102901527 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2955C>T (p.Pro985=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001504044] Chr14:102445827 [GRCh38]
Chr14:102912164 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3231G>A (p.Gln1077=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001435237] Chr14:102449784 [GRCh38]
Chr14:102916121 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.348+10C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV001488888] Chr14:102407476 [GRCh38]
Chr14:102873813 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.*60A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV001538036]|not provided [RCV001712986] Chr14:102498317 [GRCh38]
Chr14:102964654 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.2571G>A (p.Ser857=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001393796] Chr14:102438198 [GRCh38]
Chr14:102904535 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.816G>A (p.Pro272=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001426193] Chr14:102425156 [GRCh38]
Chr14:102891493 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2580A>C (p.Gly860=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001404929] Chr14:102440437 [GRCh38]
Chr14:102906774 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3641-9T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV001456540] Chr14:102465132 [GRCh38]
Chr14:102931469 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3932-4A>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV001472180] Chr14:102497566 [GRCh38]
Chr14:102963903 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2469C>A (p.Ile823=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001484231] Chr14:102438096 [GRCh38]
Chr14:102904433 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4081+8C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV001505856] Chr14:102497727 [GRCh38]
Chr14:102964064 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1915T>C (p.Phe639Leu) single nucleotide variant Inborn genetic diseases [RCV002836511] Chr14:102434732 [GRCh38]
Chr14:102901069 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3148G>A (p.Val1050Met) single nucleotide variant not provided [RCV001726931] Chr14:102449701 [GRCh38]
Chr14:102916038 [GRCh37]
Chr14:14q32.31		 uncertain significance
NC_000014.8:g.(?_102829248)_(102968819_?)dup duplication not specified [RCV002238639] Chr14:102829248..102968819 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1156del (p.Ala386fs) deletion Hereditary spastic paraplegia 49 [RCV001783862] Chr14:102431864 [GRCh38]
Chr14:102898201 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.2011_2015del (p.Glu671fs) deletion Hereditary spastic paraplegia 49 [RCV001783861] Chr14:102434828..102434832 [GRCh38]
Chr14:102901165..102901169 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.1417+171AC[9] microsatellite not provided [RCV001785977] Chr14:102432299..102432304 [GRCh38]
Chr14:102898636..102898641 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.71C>T (p.Pro24Leu) single nucleotide variant not provided [RCV001773842] Chr14:102376792 [GRCh38]
Chr14:102843129 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.4036G>A (p.Gly1346Arg) single nucleotide variant not provided [RCV001769212] Chr14:102497674 [GRCh38]
Chr14:102964011 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1666A>G (p.Met556Val) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002540287]|Inborn genetic diseases [RCV002544011]|not provided [RCV001770857] Chr14:102434483 [GRCh38]
Chr14:102900820 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.584T>C (p.Leu195Pro) single nucleotide variant not provided [RCV001769213] Chr14:102414739 [GRCh38]
Chr14:102881076 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2934-245A>G single nucleotide variant not provided [RCV001787629] Chr14:102445561 [GRCh38]
Chr14:102911898 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4085C>T (p.Thr1362Ile) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002538857]|Hereditary spastic paraplegia [RCV001847328]|not provided [RCV001756923] Chr14:102498106 [GRCh38]
Chr14:102964443 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3197G>A (p.Arg1066His) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002001725] Chr14:102449750 [GRCh38]
Chr14:102916087 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2124G>C (p.Gln708His) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002004037] Chr14:102434941 [GRCh38]
Chr14:102901278 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2578+2T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV001988824] Chr14:102438207 [GRCh38]
Chr14:102904544 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.3396del (p.Thr1133fs) deletion Hereditary spastic paraplegia 49 [RCV001872411] Chr14:102450637 [GRCh38]
Chr14:102916974 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.3172G>A (p.Val1058Ile) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001914165] Chr14:102449725 [GRCh38]
Chr14:102916062 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.952-7_952-6del deletion Hereditary spastic paraplegia [RCV001848271]|not provided [RCV004693774] Chr14:102428223..102428224 [GRCh38]
Chr14:102894560..102894561 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.*1716G>C single nucleotide variant Hereditary spastic paraplegia [RCV001848246]|not provided [RCV004715588] Chr14:102499973 [GRCh38]
Chr14:102966310 [GRCh37]
Chr14:14q32.31		 benign|likely benign
NM_014844.5(TECPR2):c.22G>C (p.Val8Leu) single nucleotide variant Hereditary spastic paraplegia [RCV001848250] Chr14:102376743 [GRCh38]
Chr14:102843080 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2827C>T (p.Arg943Trp) single nucleotide variant Hereditary spastic paraplegia [RCV001848256]|Inborn genetic diseases [RCV004038699] Chr14:102443721 [GRCh38]
Chr14:102910058 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.952-12_952-6dup duplication Hereditary spastic paraplegia [RCV001848266] Chr14:102428222..102428223 [GRCh38]
Chr14:102894559..102894560 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.952-6dup duplication Hereditary spastic paraplegia [RCV001848270]|not provided [RCV004693773] Chr14:102428222..102428223 [GRCh38]
Chr14:102894559..102894560 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.952-9_952-6del deletion Hereditary spastic paraplegia [RCV001848274]|not provided [RCV004693776] Chr14:102428223..102428226 [GRCh38]
Chr14:102894560..102894563 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.25dup (p.Thr9fs) duplication Hereditary spastic paraplegia 49 [RCV001863521] Chr14:102376745..102376746 [GRCh38]
Chr14:102843082..102843083 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.3737_3738del (p.Leu1246fs) microsatellite Hereditary spastic paraplegia 49 [RCV001945253] Chr14:102465234..102465235 [GRCh38]
Chr14:102931571..102931572 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.1834_1835del (p.Gln612fs) microsatellite Hereditary spastic paraplegia 49 [RCV001945332] Chr14:102434647..102434648 [GRCh38]
Chr14:102900984..102900985 [GRCh37]
Chr14:14q32.31		 pathogenic
NC_000014.8:g.(?_102431029)_(103192843_?)del deletion Charcot-Marie-Tooth disease axonal type 2O [RCV002033540] Chr14:102431029..103192843 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.675C>A (p.Leu225=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001946829] Chr14:102425015 [GRCh38]
Chr14:102891352 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3868G>A (p.Val1290Met) single nucleotide variant Inborn genetic diseases [RCV002545250]|not specified [RCV001844674] Chr14:102497057 [GRCh38]
Chr14:102963394 [GRCh37]
Chr14:14q32.31		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437) copy number loss not specified [RCV002052456] Chr14:101732158..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_014844.5(TECPR2):c.3475C>T (p.Arg1159Trp) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001885413]|Hereditary spastic paraplegia [RCV001848258]|not provided [RCV004693772] Chr14:102452462 [GRCh38]
Chr14:102918799 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1244C>A (p.Ser415Tyr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002034747]|Hereditary spastic paraplegia [RCV001848248] Chr14:102431955 [GRCh38]
Chr14:102898292 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1751del (p.Gly584fs) deletion Hereditary spastic paraplegia 49 [RCV001824195] Chr14:102434567 [GRCh38]
Chr14:102900904 [GRCh37]
Chr14:14q32.31		 pathogenic|likely pathogenic
NC_000014.8:g.(?_102873665)_(102964066_?)dup duplication Hereditary spastic paraplegia 49 [RCV002024635] Chr14:102873665..102964066 [GRCh37]
Chr14:14q32.31		 likely pathogenic
GRCh37/hg19 14q32.31-32.32(chr14:102871245-103645036)x4 copy number gain not provided [RCV001825177] Chr14:102871245..103645036 [GRCh37]
Chr14:14q32.31-32.32		 not provided
NM_014844.5(TECPR2):c.2359G>A (p.Gly787Ser) single nucleotide variant Hereditary spastic paraplegia [RCV001848251] Chr14:102435176 [GRCh38]
Chr14:102901513 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2394+3A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002545261]|Hereditary spastic paraplegia [RCV001848252]|TECPR2-related disorder [RCV003923336]|not provided [RCV003401754] Chr14:102435214 [GRCh38]
Chr14:102901551 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.708A>G (p.Ser236=) single nucleotide variant Hereditary spastic paraplegia [RCV001848265]|not provided [RCV003401755] Chr14:102425048 [GRCh38]
Chr14:102891385 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.952-13_952-6dup duplication Hereditary spastic paraplegia [RCV001848268]|TECPR2-related disorder [RCV003941173] Chr14:102428222..102428223 [GRCh38]
Chr14:102894559..102894560 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.952-15_952-6dup duplication Hereditary spastic paraplegia [RCV001848269] Chr14:102428222..102428223 [GRCh38]
Chr14:102894559..102894560 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.952-7_952-6dup duplication Hereditary spastic paraplegia [RCV001848272] Chr14:102428222..102428223 [GRCh38]
Chr14:102894559..102894560 [GRCh37]
Chr14:14q32.31		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1 copy number loss not provided [RCV001829204] Chr14:101593860..106160500 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_014844.5(TECPR2):c.1974A>G (p.Pro658=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001871434] Chr14:102434791 [GRCh38]
Chr14:102901128 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.4(TECPR2):c.-260C>T single nucleotide variant Hereditary spastic paraplegia [RCV001848254] Chr14:102362929 [GRCh38]
Chr14:102829266 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2793G>A (p.Val931=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001949374] Chr14:102443687 [GRCh38]
Chr14:102910024 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2875C>T (p.Arg959Trp) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002034748]|Hereditary spastic paraplegia [RCV001848257] Chr14:102443769 [GRCh38]
Chr14:102910106 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1152del (p.Ala386fs) deletion Hereditary spastic paraplegia 49 [RCV002042020] Chr14:102431863 [GRCh38]
Chr14:102898200 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.3500C>T (p.Pro1167Leu) single nucleotide variant Hereditary spastic paraplegia [RCV001848259] Chr14:102452487 [GRCh38]
Chr14:102918824 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.4136G>A (p.Arg1379Gln) single nucleotide variant Hereditary spastic paraplegia [RCV001848264] Chr14:102498157 [GRCh38]
Chr14:102964494 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1129G>A (p.Val377Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002543380]|Hereditary spastic paraplegia [RCV001848247]|not provided [RCV004728843] Chr14:102431840 [GRCh38]
Chr14:102898177 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2528G>T (p.Arg843Leu) single nucleotide variant Hereditary spastic paraplegia [RCV001848253] Chr14:102438155 [GRCh38]
Chr14:102904492 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2701G>A (p.Asp901Asn) single nucleotide variant Hereditary spastic paraplegia [RCV001848255] Chr14:102440558 [GRCh38]
Chr14:102906895 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3913G>A (p.Ala1305Thr) single nucleotide variant Hereditary spastic paraplegia [RCV001848261] Chr14:102497102 [GRCh38]
Chr14:102963439 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.4066G>A (p.Val1356Met) single nucleotide variant Hereditary spastic paraplegia [RCV001848262] Chr14:102497704 [GRCh38]
Chr14:102964041 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.952-8_952-6del deletion Hereditary spastic paraplegia [RCV001848273]|not provided [RCV004693775] Chr14:102428223..102428225 [GRCh38]
Chr14:102894560..102894562 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.123C>G (p.Leu41=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001999778] Chr14:102376844 [GRCh38]
Chr14:102843181 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.4(TECPR2):c.222delG deletion Hereditary spastic paraplegia 49 [RCV001941872]|Hereditary spastic paraplegia [RCV003120778] Chr14:102407337 [GRCh38]
Chr14:102873674 [GRCh37]
Chr14:14q32.31		 pathogenic|likely pathogenic
NM_014844.5(TECPR2):c.3686G>A (p.Trp1229Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001880503] Chr14:102465186 [GRCh38]
Chr14:102931523 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.173A>T (p.Tyr58Phe) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002012280] Chr14:102376894 [GRCh38]
Chr14:102843231 [GRCh37]
Chr14:14q32.31		 uncertain significance
NC_000014.8:g.(?_102915956)_(102918974_?)dup duplication Hereditary spastic paraplegia 49 [RCV002038299] Chr14:102915956..102918974 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.167T>C (p.Met56Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002038769] Chr14:102376888 [GRCh38]
Chr14:102843225 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2988_2989del (p.Trp997fs) microsatellite Hereditary spastic paraplegia 49 [RCV001902457] Chr14:102445856..102445857 [GRCh38]
Chr14:102912193..102912194 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.3806T>C (p.Leu1269Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001991206] Chr14:102496995 [GRCh38]
Chr14:102963332 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1342A>G (p.Ser448Gly) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002048574] Chr14:102432053 [GRCh38]
Chr14:102898390 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3784G>A (p.Val1262Ile) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002016441] Chr14:102465284 [GRCh38]
Chr14:102931621 [GRCh37]
Chr14:14q32.31		 uncertain significance
NC_000014.8:g.(?_102843059)_(102931646_?)del deletion Hereditary spastic paraplegia 49 [RCV001951146] Chr14:102843059..102931646 [GRCh37]
Chr14:14q32.31		 pathogenic
NC_000014.8:g.(?_102229222)_(105861009_?)dup duplication not provided [RCV003120748] Chr14:102229222..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NC_000014.8:g.(?_102894577)_(102894729_?)del deletion Hereditary spastic paraplegia 49 [RCV001993200] Chr14:102894577..102894729 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.158G>A (p.Ser53Asn) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001902336] Chr14:102376879 [GRCh38]
Chr14:102843216 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1261G>A (p.Gly421Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001991514] Chr14:102431972 [GRCh38]
Chr14:102898309 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2683G>A (p.Val895Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002034447] Chr14:102440540 [GRCh38]
Chr14:102906877 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.675_676del (p.Leu225_Cys226insTer) microsatellite Hereditary spastic paraplegia 49 [RCV001875337] Chr14:102425013..102425014 [GRCh38]
Chr14:102891350..102891351 [GRCh37]
Chr14:14q32.31		 pathogenic|likely pathogenic
NM_014844.5(TECPR2):c.150G>A (p.Val50=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001960059] Chr14:102376871 [GRCh38]
Chr14:102843208 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3942del (p.Cys1315fs) deletion Hereditary spastic paraplegia 49 [RCV001951526] Chr14:102497579 [GRCh38]
Chr14:102963916 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.728G>A (p.Trp243Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001956288] Chr14:102425068 [GRCh38]
Chr14:102891405 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.2617G>T (p.Ala873Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002051399] Chr14:102440474 [GRCh38]
Chr14:102906811 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1586G>C (p.Ser529Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV001991922] Chr14:102434403 [GRCh38]
Chr14:102900740 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.4023C>T (p.Asp1341=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002033172] Chr14:102497661 [GRCh38]
Chr14:102963998 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1131G>A (p.Val377=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002192110] Chr14:102431842 [GRCh38]
Chr14:102898179 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.865C>T (p.Leu289=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002075582] Chr14:102425205 [GRCh38]
Chr14:102891542 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2995C>T (p.Leu999=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002089026] Chr14:102445867 [GRCh38]
Chr14:102912204 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4227G>A (p.Glu1409=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002206018] Chr14:102498248 [GRCh38]
Chr14:102964585 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2502C>T (p.Cys834=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002128511] Chr14:102438129 [GRCh38]
Chr14:102904466 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3641-8A>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002187864] Chr14:102465133 [GRCh38]
Chr14:102931470 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3717C>T (p.Phe1239=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002086257] Chr14:102465217 [GRCh38]
Chr14:102931554 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1534C>T (p.Leu512=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002147540] Chr14:102434351 [GRCh38]
Chr14:102900688 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2244A>C (p.Thr748=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002189732]|not provided [RCV003403674] Chr14:102435061 [GRCh38]
Chr14:102901398 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.588T>C (p.Phe196=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002108285] Chr14:102414743 [GRCh38]
Chr14:102881080 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.207G>A (p.Lys69=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002165920] Chr14:102376928 [GRCh38]
Chr14:102843265 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1818T>C (p.Asp606=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002170531] Chr14:102434635 [GRCh38]
Chr14:102900972 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1992G>A (p.Leu664=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002111613] Chr14:102434809 [GRCh38]
Chr14:102901146 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.144C>T (p.Ile48=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002085804] Chr14:102376865 [GRCh38]
Chr14:102843202 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.297C>G (p.Gly99=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002146916] Chr14:102407415 [GRCh38]
Chr14:102873752 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.180C>T (p.Tyr60=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002210216] Chr14:102376901 [GRCh38]
Chr14:102843238 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3333T>C (p.His1111=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002128416] Chr14:102450576 [GRCh38]
Chr14:102916913 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1887C>T (p.Asp629=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002128735] Chr14:102434704 [GRCh38]
Chr14:102901041 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+10C>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV002112416] Chr14:102438215 [GRCh38]
Chr14:102904552 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3360T>C (p.Ala1120=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002124519] Chr14:102450603 [GRCh38]
Chr14:102916940 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2395-4T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV002185137] Chr14:102438018 [GRCh38]
Chr14:102904355 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1965C>T (p.Ser655=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002087902] Chr14:102434782 [GRCh38]
Chr14:102901119 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.220-5C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002186047] Chr14:102407333 [GRCh38]
Chr14:102873670 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4158C>T (p.His1386=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002110417] Chr14:102498179 [GRCh38]
Chr14:102964516 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3132C>T (p.Ile1044=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002127206] Chr14:102449685 [GRCh38]
Chr14:102916022 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.220-4C>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV002188439]|not specified [RCV003120834] Chr14:102407334 [GRCh38]
Chr14:102873671 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.1257C>T (p.Gly419=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002145866] Chr14:102431968 [GRCh38]
Chr14:102898305 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1182A>G (p.Arg394=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002209143] Chr14:102431893 [GRCh38]
Chr14:102898230 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3931+7G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV002072852] Chr14:102497127 [GRCh38]
Chr14:102963464 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3406+10T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV002127628] Chr14:102450659 [GRCh38]
Chr14:102916996 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3348G>C (p.Gly1116=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002089667] Chr14:102450591 [GRCh38]
Chr14:102916928 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1545C>T (p.Ser515=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002209443] Chr14:102434362 [GRCh38]
Chr14:102900699 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1086G>A (p.Val362=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002127877] Chr14:102431797 [GRCh38]
Chr14:102898134 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.951+15G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV002091120] Chr14:102425306 [GRCh38]
Chr14:102891643 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.432T>C (p.Ser144=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002167573] Chr14:102408571 [GRCh38]
Chr14:102874908 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.9G>A (p.Ser3=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002104845] Chr14:102376730 [GRCh38]
Chr14:102843067 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3543G>A (p.Leu1181=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002087120] Chr14:102452530 [GRCh38]
Chr14:102918867 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.939C>T (p.Asp313=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002169286] Chr14:102425279 [GRCh38]
Chr14:102891616 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3640+11C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002166300] Chr14:102452638 [GRCh38]
Chr14:102918975 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3813C>T (p.Ser1271=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002105231] Chr14:102497002 [GRCh38]
Chr14:102963339 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.162C>T (p.Ile54=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002113814] Chr14:102376883 [GRCh38]
Chr14:102843220 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1386A>G (p.Lys462=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002152252] Chr14:102432097 [GRCh38]
Chr14:102898434 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2667A>G (p.Glu889=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002166953] Chr14:102440524 [GRCh38]
Chr14:102906861 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.681G>A (p.Lys227=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002168563] Chr14:102425021 [GRCh38]
Chr14:102891358 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.453T>A (p.Ile151=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002153518] Chr14:102408592 [GRCh38]
Chr14:102874929 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2538G>A (p.Lys846=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002194978] Chr14:102438165 [GRCh38]
Chr14:102904502 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2100T>C (p.Ala700=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002129229] Chr14:102434917 [GRCh38]
Chr14:102901254 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.815C>T (p.Pro272Leu) single nucleotide variant not provided [RCV002211278] Chr14:102425155 [GRCh38]
Chr14:102891492 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.627A>G (p.Gln209=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002135175] Chr14:102414782 [GRCh38]
Chr14:102881119 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.540T>C (p.Tyr180=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002194783] Chr14:102414695 [GRCh38]
Chr14:102881032 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3540G>A (p.Ala1180=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002211978] Chr14:102452527 [GRCh38]
Chr14:102918864 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3931+10T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002173911] Chr14:102497130 [GRCh38]
Chr14:102963467 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4137G>T (p.Arg1379=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002216225] Chr14:102498158 [GRCh38]
Chr14:102964495 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2364A>G (p.Ala788=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002078354] Chr14:102435181 [GRCh38]
Chr14:102901518 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3387T>C (p.Ser1129=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002114950] Chr14:102450630 [GRCh38]
Chr14:102916967 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3300T>C (p.Ala1100=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002190418] Chr14:102449853 [GRCh38]
Chr14:102916190 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3407-4G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV002213886] Chr14:102452390 [GRCh38]
Chr14:102918727 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3932-7C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002151715] Chr14:102497563 [GRCh38]
Chr14:102963900 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.81C>A (p.Ile27=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002171748] Chr14:102376802 [GRCh38]
Chr14:102843139 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2646G>A (p.Lys882=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002078153] Chr14:102440503 [GRCh38]
Chr14:102906840 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2598T>C (p.Ile866=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002216086] Chr14:102440455 [GRCh38]
Chr14:102906792 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1179C>G (p.Leu393=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002135073] Chr14:102431890 [GRCh38]
Chr14:102898227 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4212G>A (p.Leu1404=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002117166] Chr14:102498233 [GRCh38]
Chr14:102964570 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3390A>T (p.Ala1130=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002097486] Chr14:102450633 [GRCh38]
Chr14:102916970 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3798G>T (p.Gly1266=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002149548] Chr14:102496987 [GRCh38]
Chr14:102963324 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3708A>T (p.Gly1236=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002095271] Chr14:102465208 [GRCh38]
Chr14:102931545 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1473A>G (p.Glu491=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002150041] Chr14:102434290 [GRCh38]
Chr14:102900627 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2457C>T (p.Ser819=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002094629] Chr14:102438084 [GRCh38]
Chr14:102904421 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3407-4G>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002106543] Chr14:102452390 [GRCh38]
Chr14:102918727 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.300G>A (p.Arg100=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002076100] Chr14:102407418 [GRCh38]
Chr14:102873755 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.438T>C (p.Asp146=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002079991] Chr14:102408577 [GRCh38]
Chr14:102874914 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3931+9del deletion Hereditary spastic paraplegia 49 [RCV002206461] Chr14:102497128 [GRCh38]
Chr14:102963465 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-20T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002114593] Chr14:102428230 [GRCh38]
Chr14:102894567 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2574C>T (p.Pro858=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002169117] Chr14:102438201 [GRCh38]
Chr14:102904538 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2934-4T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002151127] Chr14:102445802 [GRCh38]
Chr14:102912139 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.753T>G (p.Val251=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002126471] Chr14:102425093 [GRCh38]
Chr14:102891430 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2709G>A (p.Thr903=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002093433] Chr14:102440566 [GRCh38]
Chr14:102906903 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1350G>A (p.Glu450=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002077667] Chr14:102432061 [GRCh38]
Chr14:102898398 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3317-8C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002172468] Chr14:102450552 [GRCh38]
Chr14:102916889 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.609A>G (p.Val203=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002079714] Chr14:102414764 [GRCh38]
Chr14:102881101 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.951+15G>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002116043] Chr14:102425306 [GRCh38]
Chr14:102891643 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1725T>C (p.His575=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002215648] Chr14:102434542 [GRCh38]
Chr14:102900879 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4082-8C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002134021] Chr14:102498095 [GRCh38]
Chr14:102964432 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2442C>A (p.Leu814=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002134809] Chr14:102438069 [GRCh38]
Chr14:102904406 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-10T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV002153262] Chr14:102428240 [GRCh38]
Chr14:102894577 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.27A>G (p.Thr9=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002171044] Chr14:102376748 [GRCh38]
Chr14:102843085 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2613C>T (p.Asn871=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002166945] Chr14:102440470 [GRCh38]
Chr14:102906807 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1287C>G (p.Ala429=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002150365] Chr14:102431998 [GRCh38]
Chr14:102898335 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2331T>C (p.Ser777=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002119184] Chr14:102435148 [GRCh38]
Chr14:102901485 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1371C>T (p.Val457=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002135374] Chr14:102432082 [GRCh38]
Chr14:102898419 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3915C>G (p.Ala1305=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002081340] Chr14:102497104 [GRCh38]
Chr14:102963441 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2394+14G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV002177330] Chr14:102435225 [GRCh38]
Chr14:102901562 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.378C>T (p.His126=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002177336] Chr14:102408517 [GRCh38]
Chr14:102874854 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3876G>A (p.Val1292=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002157893] Chr14:102497065 [GRCh38]
Chr14:102963402 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.288A>G (p.Thr96=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002218969] Chr14:102407406 [GRCh38]
Chr14:102873743 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+8T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002221077] Chr14:102438213 [GRCh38]
Chr14:102904550 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1443C>T (p.His481=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002082014] Chr14:102434260 [GRCh38]
Chr14:102900597 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3932-12G>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002179601] Chr14:102497558 [GRCh38]
Chr14:102963895 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1755G>C (p.Ala585=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002200296] Chr14:102434572 [GRCh38]
Chr14:102900909 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.33A>G (p.Arg11=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002158422] Chr14:102376754 [GRCh38]
Chr14:102843091 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.813C>T (p.His271=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002199113] Chr14:102425153 [GRCh38]
Chr14:102891490 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1404G>A (p.Lys468=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002178368] Chr14:102432115 [GRCh38]
Chr14:102898452 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[4] microsatellite Hereditary spastic paraplegia 49 [RCV002103383] Chr14:102438214..102438215 [GRCh38]
Chr14:102904551..102904552 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2808G>A (p.Pro936=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002099740] Chr14:102443702 [GRCh38]
Chr14:102910039 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1782C>T (p.Val594=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002220258] Chr14:102434599 [GRCh38]
Chr14:102900936 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3486G>T (p.Thr1162=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002218631] Chr14:102452473 [GRCh38]
Chr14:102918810 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1155G>C (p.Gly385=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002181200] Chr14:102431866 [GRCh38]
Chr14:102898203 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[6] microsatellite Hereditary spastic paraplegia 49 [RCV002163507] Chr14:102438214..102438215 [GRCh38]
Chr14:102904551..102904552 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3780A>T (p.Pro1260=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002163523] Chr14:102465280 [GRCh38]
Chr14:102931617 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2901G>C (p.Pro967=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002163852] Chr14:102443795 [GRCh38]
Chr14:102910132 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.396T>C (p.Ala132=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002179908] Chr14:102408535 [GRCh38]
Chr14:102874872 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1290C>T (p.Thr430=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002217443] Chr14:102432001 [GRCh38]
Chr14:102898338 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3912C>G (p.Thr1304=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002164194] Chr14:102497101 [GRCh38]
Chr14:102963438 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.987T>C (p.Ile329=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002138512] Chr14:102428285 [GRCh38]
Chr14:102894622 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3641-8A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002204639] Chr14:102465133 [GRCh38]
Chr14:102931470 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3066T>C (p.His1022=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002175415] Chr14:102445938 [GRCh38]
Chr14:102912275 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3594C>T (p.Ser1198=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002175595] Chr14:102452581 [GRCh38]
Chr14:102918918 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3407-10C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002177533] Chr14:102452384 [GRCh38]
Chr14:102918721 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2244A>G (p.Thr748=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002137768] Chr14:102435061 [GRCh38]
Chr14:102901398 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3750C>A (p.Leu1250=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002140875] Chr14:102465250 [GRCh38]
Chr14:102931587 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2934-11_2934-9del deletion Hereditary spastic paraplegia 49 [RCV002161725] Chr14:102445795..102445797 [GRCh38]
Chr14:102912132..102912134 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2007T>C (p.Ala669=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002161978] Chr14:102434824 [GRCh38]
Chr14:102901161 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3090C>T (p.Asp1030=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002162321] Chr14:102449643 [GRCh38]
Chr14:102915980 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1938C>T (p.Asn646=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002124137] Chr14:102434755 [GRCh38]
Chr14:102901092 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3915C>T (p.Ala1305=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002119085] Chr14:102497104 [GRCh38]
Chr14:102963441 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4164C>T (p.His1388=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002119554] Chr14:102498185 [GRCh38]
Chr14:102964522 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.747G>C (p.Gly249=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002203002] Chr14:102425087 [GRCh38]
Chr14:102891424 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2316A>G (p.Thr772=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002103419] Chr14:102435133 [GRCh38]
Chr14:102901470 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3348G>A (p.Gly1116=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002119595] Chr14:102450591 [GRCh38]
Chr14:102916928 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1933C>T (p.Leu645=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002135802] Chr14:102434750 [GRCh38]
Chr14:102901087 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4125C>T (p.Tyr1375=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002143275] Chr14:102498146 [GRCh38]
Chr14:102964483 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2856G>A (p.Glu952=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002102101] Chr14:102443750 [GRCh38]
Chr14:102910087 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1815T>C (p.Asp605=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002081700] Chr14:102434632 [GRCh38]
Chr14:102900969 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3414C>T (p.Phe1138=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002159583] Chr14:102452401 [GRCh38]
Chr14:102918738 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3270C>T (p.Ile1090=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002181427] Chr14:102449823 [GRCh38]
Chr14:102916160 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3489G>A (p.Val1163=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002160420] Chr14:102452476 [GRCh38]
Chr14:102918813 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3417G>A (p.Leu1139=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002198561] Chr14:102452404 [GRCh38]
Chr14:102918741 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2520C>T (p.Ala840=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002138493] Chr14:102438147 [GRCh38]
Chr14:102904484 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.324T>G (p.Ser108=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002142062] Chr14:102407442 [GRCh38]
Chr14:102873779 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2928T>C (p.Ile976=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002158661] Chr14:102443822 [GRCh38]
Chr14:102910159 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.429C>T (p.Phe143=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002163122] Chr14:102408568 [GRCh38]
Chr14:102874905 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2709G>T (p.Thr903=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002119248] Chr14:102440566 [GRCh38]
Chr14:102906903 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3969C>A (p.Thr1323=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002178904] Chr14:102497607 [GRCh38]
Chr14:102963944 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1380T>C (p.Pro460=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002157657] Chr14:102432091 [GRCh38]
Chr14:102898428 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3451G>A (p.Val1151Ile) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003115901] Chr14:102452438 [GRCh38]
Chr14:102918775 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.481-17C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003116983] Chr14:102414619 [GRCh38]
Chr14:102880956 [GRCh37]
Chr14:14q32.31		 likely benign
NC_000014.8:g.(?_102931468)_(102931651_?)del deletion Hereditary spastic paraplegia 49 [RCV003116775] Chr14:102931468..102931651 [GRCh37]
Chr14:14q32.31		 pathogenic
NC_000014.8:g.(?_102963296)_(102964594_?)del deletion Hereditary spastic paraplegia 49 [RCV003116776] Chr14:102963296..102964594 [GRCh37]
Chr14:14q32.31		 uncertain significance
NC_000014.8:g.(?_102880963)_(102894729_?)del deletion Hereditary spastic paraplegia 49 [RCV003116777] Chr14:102880963..102894729 [GRCh37]
Chr14:14q32.31		 pathogenic
NC_000014.8:g.(?_102843059)_(102964594_?)dup duplication Hereditary spastic paraplegia 49 [RCV003116778] Chr14:102843059..102964594 [GRCh37]
Chr14:14q32.31		 uncertain significance
NC_000014.8:g.(?_102843059)_(102843297_?)dup duplication Hereditary spastic paraplegia 49 [RCV003116779] Chr14:102843059..102843297 [GRCh37]
Chr14:14q32.31		 uncertain significance
NC_000014.8:g.(?_102963296)_(102964594_?)dup duplication Hereditary spastic paraplegia 49 [RCV003116780] Chr14:102963296..102964594 [GRCh37]
Chr14:14q32.31		 uncertain significance
NC_000014.8:g.(102931627_102963315)_(102968819_?)del deletion Hereditary spastic paraplegia [RCV003123486] Chr14:102963315..102968819 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.480G>A (p.Gln160=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV004788315] Chr14:102408619 [GRCh38]
Chr14:102874956 [GRCh37]
Chr14:14q32.31		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_014844.5(TECPR2):c.3236G>A (p.Ser1079Asn) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003487025]|not provided [RCV002261499] Chr14:102449789 [GRCh38]
Chr14:102916126 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.324T>C (p.Ser108=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002861542] Chr14:102407442 [GRCh38]
Chr14:102873779 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1208C>G (p.Ala403Gly) single nucleotide variant Inborn genetic diseases [RCV002880173] Chr14:102431919 [GRCh38]
Chr14:102898256 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2742C>T (p.Tyr914=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002837854] Chr14:102440599 [GRCh38]
Chr14:102906936 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3888C>T (p.Ile1296=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002750482] Chr14:102497077 [GRCh38]
Chr14:102963414 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.787G>A (p.Gly263Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002862198]|Inborn genetic diseases [RCV002870884] Chr14:102425127 [GRCh38]
Chr14:102891464 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3641-6C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002838105] Chr14:102465135 [GRCh38]
Chr14:102931472 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1252A>G (p.Ser418Gly) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002727186] Chr14:102431963 [GRCh38]
Chr14:102898300 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2615G>A (p.Arg872Gln) single nucleotide variant Inborn genetic diseases [RCV002754669] Chr14:102440472 [GRCh38]
Chr14:102906809 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2895C>T (p.Phe965=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002681697] Chr14:102443789 [GRCh38]
Chr14:102910126 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3435C>T (p.Ser1145=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002907831] Chr14:102452422 [GRCh38]
Chr14:102918759 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2224C>T (p.Gln742Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002908853] Chr14:102435041 [GRCh38]
Chr14:102901378 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.349-4A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002947176] Chr14:102408484 [GRCh38]
Chr14:102874821 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.424T>C (p.Leu142=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002975116] Chr14:102408563 [GRCh38]
Chr14:102874900 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3407-5T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002908585] Chr14:102452389 [GRCh38]
Chr14:102918726 [GRCh37]
Chr14:14q32.31		 likely benign|uncertain significance
NM_014844.5(TECPR2):c.561C>T (p.Val187=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003035163] Chr14:102414716 [GRCh38]
Chr14:102881053 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1529_1557dup (p.Ser520delinsValSerTrpAlaValAlaTrpIleSerTer) duplication Hereditary spastic paraplegia 49 [RCV003034759] Chr14:102434344..102434345 [GRCh38]
Chr14:102900681..102900682 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.2151C>A (p.Val717=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002837887] Chr14:102434968 [GRCh38]
Chr14:102901305 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2249C>T (p.Thr750Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003015395] Chr14:102435066 [GRCh38]
Chr14:102901403 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2955del (p.Val986fs) deletion Hereditary spastic paraplegia 49 [RCV002996804] Chr14:102445825 [GRCh38]
Chr14:102912162 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.4082-3C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003075892] Chr14:102498100 [GRCh38]
Chr14:102964437 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1360C>T (p.Gln454Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003013677] Chr14:102432071 [GRCh38]
Chr14:102898408 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.2101G>C (p.Val701Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002970823]|Inborn genetic diseases [RCV004966228] Chr14:102434918 [GRCh38]
Chr14:102901255 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3243C>G (p.Leu1081=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002994952] Chr14:102449796 [GRCh38]
Chr14:102916133 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3582G>T (p.Thr1194=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002863809] Chr14:102452569 [GRCh38]
Chr14:102918906 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1328_1329del (p.Arg443fs) microsatellite Hereditary spastic paraplegia 49 [RCV002991765] Chr14:102432036..102432037 [GRCh38]
Chr14:102898373..102898374 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.952-14T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002731373] Chr14:102428236 [GRCh38]
Chr14:102894573 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1317C>T (p.Pro439=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002730745] Chr14:102432028 [GRCh38]
Chr14:102898365 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3777G>A (p.Glu1259=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003016490] Chr14:102465277 [GRCh38]
Chr14:102931614 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.783T>G (p.Phe261Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002686131] Chr14:102425123 [GRCh38]
Chr14:102891460 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.371G>T (p.Gly124Val) single nucleotide variant Inborn genetic diseases [RCV002754034] Chr14:102408510 [GRCh38]
Chr14:102874847 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.937G>C (p.Asp313His) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002617034] Chr14:102425277 [GRCh38]
Chr14:102891614 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1371C>A (p.Val457=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002994819] Chr14:102432082 [GRCh38]
Chr14:102898419 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2175G>T (p.Leu725=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002881910] Chr14:102434992 [GRCh38]
Chr14:102901329 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3398C>T (p.Thr1133Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002975109] Chr14:102450641 [GRCh38]
Chr14:102916978 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3473C>T (p.Ser1158Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002947923] Chr14:102452460 [GRCh38]
Chr14:102918797 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3918G>A (p.Trp1306Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002614136] Chr14:102497107 [GRCh38]
Chr14:102963444 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.1761A>G (p.Glu587=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002842413] Chr14:102434578 [GRCh38]
Chr14:102900915 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3453C>G (p.Val1151=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003016857] Chr14:102452440 [GRCh38]
Chr14:102918777 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2752+10G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003021845] Chr14:102440619 [GRCh38]
Chr14:102906956 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2322C>G (p.Leu774=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002871363] Chr14:102435139 [GRCh38]
Chr14:102901476 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.897C>G (p.Gly299=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003055196] Chr14:102425237 [GRCh38]
Chr14:102891574 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.526G>A (p.Val176Met) single nucleotide variant Inborn genetic diseases [RCV002845870] Chr14:102414681 [GRCh38]
Chr14:102881018 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.137A>G (p.Asp46Gly) single nucleotide variant Inborn genetic diseases [RCV002823225] Chr14:102376858 [GRCh38]
Chr14:102843195 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.658T>G (p.Cys220Gly) single nucleotide variant Inborn genetic diseases [RCV002924607] Chr14:102424998 [GRCh38]
Chr14:102891335 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.276G>A (p.Val92=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003037967] Chr14:102407394 [GRCh38]
Chr14:102873731 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2076C>T (p.His692=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002889546] Chr14:102434893 [GRCh38]
Chr14:102901230 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3061G>A (p.Asp1021Asn) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002927664]|Inborn genetic diseases [RCV004067022]|not provided [RCV005051992] Chr14:102445933 [GRCh38]
Chr14:102912270 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.747G>A (p.Gly249=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002785837] Chr14:102425087 [GRCh38]
Chr14:102891424 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1197C>T (p.Ala399=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002785995] Chr14:102431908 [GRCh38]
Chr14:102898245 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3927G>A (p.Val1309=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002637088] Chr14:102497116 [GRCh38]
Chr14:102963453 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.645G>A (p.Gly215=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003055378] Chr14:102424985 [GRCh38]
Chr14:102891322 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4095T>C (p.Asp1365=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003039329] Chr14:102498116 [GRCh38]
Chr14:102964453 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4007G>A (p.Arg1336Gln) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003326167]|Inborn genetic diseases [RCV002704113] Chr14:102497645 [GRCh38]
Chr14:102963982 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3790-11C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002886411] Chr14:102496968 [GRCh38]
Chr14:102963305 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.3528C>A (p.Ala1176=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002797175] Chr14:102452515 [GRCh38]
Chr14:102918852 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1429A>C (p.Arg477=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002796386] Chr14:102434246 [GRCh38]
Chr14:102900583 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3075+2T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003037543] Chr14:102445949 [GRCh38]
Chr14:102912286 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.2513C>T (p.Pro838Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002949376] Chr14:102438140 [GRCh38]
Chr14:102904477 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.4135C>T (p.Arg1379Trp) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002886496]|not provided [RCV003883845] Chr14:102498156 [GRCh38]
Chr14:102964493 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.4114C>T (p.Pro1372Ser) single nucleotide variant Inborn genetic diseases [RCV002783131] Chr14:102498135 [GRCh38]
Chr14:102964472 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.702T>C (p.Tyr234=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002736664] Chr14:102425042 [GRCh38]
Chr14:102891379 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3945C>T (p.Cys1315=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003100530] Chr14:102497583 [GRCh38]
Chr14:102963920 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2374G>A (p.Gly792Arg) single nucleotide variant Inborn genetic diseases [RCV002691399] Chr14:102435191 [GRCh38]
Chr14:102901528 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3378G>T (p.Val1126=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002867033] Chr14:102450621 [GRCh38]
Chr14:102916958 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.789G>C (p.Gly263=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002867050] Chr14:102425129 [GRCh38]
Chr14:102891466 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1418-2A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002662675] Chr14:102434233 [GRCh38]
Chr14:102900570 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.2599G>A (p.Glu867Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002926660] Chr14:102440456 [GRCh38]
Chr14:102906793 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3565C>T (p.Gln1189Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003038747] Chr14:102452552 [GRCh38]
Chr14:102918889 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.3086C>T (p.Thr1029Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002913772] Chr14:102449639 [GRCh38]
Chr14:102915976 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3787del (p.Gln1263fs) deletion Hereditary spastic paraplegia 49 [RCV003077869] Chr14:102465286 [GRCh38]
Chr14:102931623 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.1062G>A (p.Arg354=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002637578] Chr14:102428360 [GRCh38]
Chr14:102894697 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3028G>A (p.Gly1010Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003081266] Chr14:102445900 [GRCh38]
Chr14:102912237 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2579-10A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002846842] Chr14:102440426 [GRCh38]
Chr14:102906763 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2273A>G (p.Tyr758Cys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002761562]|not provided [RCV005051980] Chr14:102435090 [GRCh38]
Chr14:102901427 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2873A>T (p.Tyr958Phe) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002637346] Chr14:102443767 [GRCh38]
Chr14:102910104 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.870G>T (p.Gly290=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002658572] Chr14:102425210 [GRCh38]
Chr14:102891547 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3526G>A (p.Ala1176Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002912896]|Inborn genetic diseases [RCV002890975] Chr14:102452513 [GRCh38]
Chr14:102918850 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.678T>C (p.Cys226=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003038840] Chr14:102425018 [GRCh38]
Chr14:102891355 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1338C>G (p.Ala446=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003039110] Chr14:102432049 [GRCh38]
Chr14:102898386 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1748A>T (p.Asn583Ile) single nucleotide variant Inborn genetic diseases [RCV002844244] Chr14:102434565 [GRCh38]
Chr14:102900902 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3276G>A (p.Ser1092=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002569896] Chr14:102449829 [GRCh38]
Chr14:102916166 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.15A>G (p.Ser5=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003079887] Chr14:102376736 [GRCh38]
Chr14:102843073 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.501G>C (p.Leu167=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003038543] Chr14:102414656 [GRCh38]
Chr14:102880993 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1085-8T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV002820563] Chr14:102431788 [GRCh38]
Chr14:102898125 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1346C>T (p.Ser449Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002927546] Chr14:102432057 [GRCh38]
Chr14:102898394 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.4193T>G (p.Met1398Arg) single nucleotide variant Inborn genetic diseases [RCV002707434] Chr14:102498214 [GRCh38]
Chr14:102964551 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2232A>T (p.Pro744=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002912576] Chr14:102435049 [GRCh38]
Chr14:102901386 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2933+8C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002926719] Chr14:102443835 [GRCh38]
Chr14:102910172 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4161G>T (p.Ser1387=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003002663] Chr14:102498182 [GRCh38]
Chr14:102964519 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1879G>T (p.Gly627Trp) single nucleotide variant Inborn genetic diseases [RCV002768302] Chr14:102434696 [GRCh38]
Chr14:102901033 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1062G>T (p.Arg354Ser) single nucleotide variant Inborn genetic diseases [RCV002713506] Chr14:102428360 [GRCh38]
Chr14:102894697 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.177G>C (p.Leu59=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002711975] Chr14:102376898 [GRCh38]
Chr14:102843235 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.524_527delinsACTGGATTATAGCCA (p.Ile175fs) indel Inborn genetic diseases [RCV002854401] Chr14:102414679..102414682 [GRCh38]
Chr14:102881016..102881019 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.2521G>A (p.Gly841Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002890284]|Inborn genetic diseases [RCV002890283] Chr14:102438148 [GRCh38]
Chr14:102904485 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.8C>T (p.Ser3Leu) single nucleotide variant Inborn genetic diseases [RCV002712903] Chr14:102376729 [GRCh38]
Chr14:102843066 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3502G>A (p.Glu1168Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003082230] Chr14:102452489 [GRCh38]
Chr14:102918826 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.4152C>T (p.Phe1384=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002933248] Chr14:102498173 [GRCh38]
Chr14:102964510 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3709G>A (p.Val1237Ile) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002644420] Chr14:102465209 [GRCh38]
Chr14:102931546 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3501C>A (p.Pro1167=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003026084] Chr14:102452488 [GRCh38]
Chr14:102918825 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3230A>C (p.Gln1077Pro) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002958763] Chr14:102449783 [GRCh38]
Chr14:102916120 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3534G>A (p.Gln1178=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002852687] Chr14:102452521 [GRCh38]
Chr14:102918858 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2043G>A (p.Gln681=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002805612] Chr14:102434860 [GRCh38]
Chr14:102901197 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.524T>C (p.Ile175Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002851402] Chr14:102414679 [GRCh38]
Chr14:102881016 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.219+10G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV002917830] Chr14:102376950 [GRCh38]
Chr14:102843287 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3609G>A (p.Met1203Ile) single nucleotide variant Inborn genetic diseases [RCV002664868] Chr14:102452596 [GRCh38]
Chr14:102918933 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2371G>A (p.Ala791Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002890866] Chr14:102435188 [GRCh38]
Chr14:102901525 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.4120G>A (p.Gly1374Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002917218]|not provided [RCV003481345] Chr14:102498141 [GRCh38]
Chr14:102964478 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1241A>G (p.Asn414Ser) single nucleotide variant Inborn genetic diseases [RCV002699521] Chr14:102431952 [GRCh38]
Chr14:102898289 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1005_1084+133del deletion Hereditary spastic paraplegia 49 [RCV003057370] Chr14:102428299..102428511 [GRCh38]
Chr14:102894636..102894848 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.220-8T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003022493] Chr14:102407330 [GRCh38]
Chr14:102873667 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3561C>T (p.Leu1187=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003005359] Chr14:102452548 [GRCh38]
Chr14:102918885 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2997G>T (p.Leu999=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003024692] Chr14:102445869 [GRCh38]
Chr14:102912206 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2752+6C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002663818] Chr14:102440615 [GRCh38]
Chr14:102906952 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.711G>T (p.Arg237=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002928824] Chr14:102425051 [GRCh38]
Chr14:102891388 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2271C>T (p.Ile757=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002830064] Chr14:102435088 [GRCh38]
Chr14:102901425 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3106C>T (p.Gln1036Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002830080] Chr14:102449659 [GRCh38]
Chr14:102915996 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.3391G>C (p.Ala1131Pro) single nucleotide variant Inborn genetic diseases [RCV002664797] Chr14:102450634 [GRCh38]
Chr14:102916971 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2752+13C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002958749] Chr14:102440622 [GRCh38]
Chr14:102906959 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1216C>T (p.Pro406Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003059630] Chr14:102431927 [GRCh38]
Chr14:102898264 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2233C>T (p.Arg745Trp) single nucleotide variant Inborn genetic diseases [RCV002789015] Chr14:102435050 [GRCh38]
Chr14:102901387 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1610T>C (p.Val537Ala) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002766138]|Inborn genetic diseases [RCV003348914] Chr14:102434427 [GRCh38]
Chr14:102900764 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.874G>A (p.Val292Ile) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002624120]|Inborn genetic diseases [RCV004070679] Chr14:102425214 [GRCh38]
Chr14:102891551 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2934-4T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003057519] Chr14:102445802 [GRCh38]
Chr14:102912139 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4003C>T (p.Arg1335Trp) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002594094] Chr14:102497641 [GRCh38]
Chr14:102963978 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.480+8del deletion Hereditary spastic paraplegia 49 [RCV002875984] Chr14:102408626 [GRCh38]
Chr14:102874963 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3076-8C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002830112] Chr14:102449621 [GRCh38]
Chr14:102915958 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2967G>T (p.Thr989=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002626235] Chr14:102445839 [GRCh38]
Chr14:102912176 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2985T>C (p.Thr995=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002894655] Chr14:102445857 [GRCh38]
Chr14:102912194 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2933+8C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002928671] Chr14:102443835 [GRCh38]
Chr14:102910172 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3081C>T (p.Ser1027=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002667027] Chr14:102449634 [GRCh38]
Chr14:102915971 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2507C>T (p.Ala836Val) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002596470] Chr14:102438134 [GRCh38]
Chr14:102904471 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1470_1471insT (p.Glu491Ter) insertion Hereditary spastic paraplegia 49 [RCV002650589] Chr14:102434287..102434288 [GRCh38]
Chr14:102900624..102900625 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.952-20_952-19insG insertion Hereditary spastic paraplegia 49 [RCV002899897] Chr14:102428230..102428231 [GRCh38]
Chr14:102894567..102894568 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.750T>C (p.Thr250=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003009799] Chr14:102425090 [GRCh38]
Chr14:102891427 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3750_3763dup (p.Trp1255fs) duplication Hereditary spastic paraplegia 49 [RCV003045660] Chr14:102465247..102465248 [GRCh38]
Chr14:102931584..102931585 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.3581C>T (p.Thr1194Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003091455]|not provided [RCV003327584] Chr14:102452568 [GRCh38]
Chr14:102918905 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.876T>G (p.Val292=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003027161] Chr14:102425216 [GRCh38]
Chr14:102891553 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.220-2A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002632270] Chr14:102407336 [GRCh38]
Chr14:102873673 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.549A>G (p.Lys183=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003060387] Chr14:102414704 [GRCh38]
Chr14:102881041 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2496G>A (p.Leu832=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003086995] Chr14:102438123 [GRCh38]
Chr14:102904460 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3005A>G (p.His1002Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003088370] Chr14:102445877 [GRCh38]
Chr14:102912214 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2147G>A (p.Arg716His) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003089386]|Inborn genetic diseases [RCV004963421] Chr14:102434964 [GRCh38]
Chr14:102901301 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1083del (p.Thr361_Val362insTer) deletion Hereditary spastic paraplegia 49 [RCV002939124] Chr14:102428381 [GRCh38]
Chr14:102894718 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.1218A>C (p.Pro406=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003011243] Chr14:102431929 [GRCh38]
Chr14:102898266 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2478G>A (p.Leu826=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002598312] Chr14:102438105 [GRCh38]
Chr14:102904442 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.115A>C (p.Thr39Pro) single nucleotide variant Inborn genetic diseases [RCV002831146] Chr14:102376836 [GRCh38]
Chr14:102843173 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2434G>A (p.Gly812Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003061357] Chr14:102438061 [GRCh38]
Chr14:102904398 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1897A>G (p.Ile633Val) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002629154]|Inborn genetic diseases [RCV004673823] Chr14:102434714 [GRCh38]
Chr14:102901051 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.638+10A>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV002599377] Chr14:102414803 [GRCh38]
Chr14:102881140 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.873T>A (p.Leu291=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003046284] Chr14:102425213 [GRCh38]
Chr14:102891550 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1715A>G (p.His572Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003029509] Chr14:102434532 [GRCh38]
Chr14:102900869 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.861G>A (p.Arg287=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003087007] Chr14:102425201 [GRCh38]
Chr14:102891538 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2406C>T (p.Ser802=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002899254] Chr14:102438033 [GRCh38]
Chr14:102904370 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3480C>T (p.Pro1160=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002647222] Chr14:102452467 [GRCh38]
Chr14:102918804 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.408C>A (p.Ser136Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002961962] Chr14:102408547 [GRCh38]
Chr14:102874884 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.246G>A (p.Val82=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003088545] Chr14:102407364 [GRCh38]
Chr14:102873701 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.505T>C (p.Leu169=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002963011] Chr14:102414660 [GRCh38]
Chr14:102880997 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1935G>A (p.Leu645=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002899943] Chr14:102434752 [GRCh38]
Chr14:102901089 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2136C>T (p.Pro712=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002599283] Chr14:102434953 [GRCh38]
Chr14:102901290 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3619_3628dup (p.Leu1210fs) duplication Hereditary spastic paraplegia 49 [RCV003028260] Chr14:102452598..102452599 [GRCh38]
Chr14:102918935..102918936 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.2868C>T (p.Leu956=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002810766] Chr14:102443762 [GRCh38]
Chr14:102910099 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3953C>T (p.Ala1318Val) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003088169] Chr14:102497591 [GRCh38]
Chr14:102963928 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2374G>C (p.Gly792Arg) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002922815] Chr14:102435191 [GRCh38]
Chr14:102901528 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3275C>G (p.Ser1092Trp) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002628064] Chr14:102449828 [GRCh38]
Chr14:102916165 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1038G>A (p.Arg346=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002629999] Chr14:102428336 [GRCh38]
Chr14:102894673 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3459C>T (p.Ala1153=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003086044] Chr14:102452446 [GRCh38]
Chr14:102918783 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1119G>A (p.Glu373=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003063335] Chr14:102431830 [GRCh38]
Chr14:102898167 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4201C>T (p.Pro1401Ser) single nucleotide variant Inborn genetic diseases [RCV002879192] Chr14:102498222 [GRCh38]
Chr14:102964559 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2262G>A (p.Glu754=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002966680] Chr14:102435079 [GRCh38]
Chr14:102901416 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2420C>T (p.Ser807Leu) single nucleotide variant Inborn genetic diseases [RCV002934322] Chr14:102438047 [GRCh38]
Chr14:102904384 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3264C>T (p.Val1088=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003031319] Chr14:102449817 [GRCh38]
Chr14:102916154 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2649del (p.Lys884fs) deletion Hereditary spastic paraplegia 49 [RCV003048357] Chr14:102440503 [GRCh38]
Chr14:102906840 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.1585A>G (p.Ser529Gly) single nucleotide variant Inborn genetic diseases [RCV002897741] Chr14:102434402 [GRCh38]
Chr14:102900739 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3099G>A (p.Val1033=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002599390] Chr14:102449652 [GRCh38]
Chr14:102915989 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3641-7_3641-4del deletion Hereditary spastic paraplegia 49 [RCV003046181] Chr14:102465132..102465135 [GRCh38]
Chr14:102931469..102931472 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3692G>C (p.Cys1231Ser) single nucleotide variant Inborn genetic diseases [RCV002714585] Chr14:102465192 [GRCh38]
Chr14:102931529 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3678G>A (p.Gln1226=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003045884] Chr14:102465178 [GRCh38]
Chr14:102931515 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2127A>G (p.Lys709=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002921965] Chr14:102434944 [GRCh38]
Chr14:102901281 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.850T>C (p.Leu284=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002833994] Chr14:102425190 [GRCh38]
Chr14:102891527 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1301G>A (p.Gly434Asp) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002580436] Chr14:102432012 [GRCh38]
Chr14:102898349 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1715A>T (p.His572Leu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003011013] Chr14:102434532 [GRCh38]
Chr14:102900869 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2953C>T (p.Pro985Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003066636] Chr14:102445825 [GRCh38]
Chr14:102912162 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.721C>T (p.Arg241Trp) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003067040]|Inborn genetic diseases [RCV003274192] Chr14:102425061 [GRCh38]
Chr14:102891398 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3738C>T (p.Leu1246=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002725372] Chr14:102465238 [GRCh38]
Chr14:102931575 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-19T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV002604284] Chr14:102428231 [GRCh38]
Chr14:102894568 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2306C>T (p.Thr769Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002943787]|Inborn genetic diseases [RCV004068115] Chr14:102435123 [GRCh38]
Chr14:102901460 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1651G>A (p.Glu551Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003068088]|Inborn genetic diseases [RCV004963379] Chr14:102434468 [GRCh38]
Chr14:102900805 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3787C>A (p.Gln1263Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002942466] Chr14:102465287 [GRCh38]
Chr14:102931624 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3073C>A (p.Gln1025Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003069524]|Inborn genetic diseases [RCV004071851] Chr14:102445945 [GRCh38]
Chr14:102912282 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1945A>G (p.Thr649Ala) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003093420] Chr14:102434762 [GRCh38]
Chr14:102901099 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.117G>T (p.Thr39=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003068899] Chr14:102376838 [GRCh38]
Chr14:102843175 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.173A>G (p.Tyr58Cys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003069397] Chr14:102376894 [GRCh38]
Chr14:102843231 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2578+12_2578+31dup duplication Hereditary spastic paraplegia 49 [RCV002584040] Chr14:102438211..102438212 [GRCh38]
Chr14:102904548..102904549 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1758G>A (p.Arg586=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002942416] Chr14:102434575 [GRCh38]
Chr14:102900912 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.386G>A (p.Ser129Asn) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003066877] Chr14:102408525 [GRCh38]
Chr14:102874862 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1606G>T (p.Gly536Cys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003067483] Chr14:102434423 [GRCh38]
Chr14:102900760 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3471G>A (p.Gln1157=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003066230] Chr14:102452458 [GRCh38]
Chr14:102918795 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2421G>A (p.Ser807=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002609262] Chr14:102438048 [GRCh38]
Chr14:102904385 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3957G>A (p.Leu1319=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003093769] Chr14:102497595 [GRCh38]
Chr14:102963932 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2934C>T (p.Ser978=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002654782] Chr14:102445806 [GRCh38]
Chr14:102912143 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2630G>A (p.Gly877Glu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003050952] Chr14:102440487 [GRCh38]
Chr14:102906824 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2614C>T (p.Arg872Trp) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002605926]|Inborn genetic diseases [RCV004963470] Chr14:102440471 [GRCh38]
Chr14:102906808 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2283_2284delinsTT (p.Leu762Phe) indel Hereditary spastic paraplegia 49 [RCV002608837] Chr14:102435100..102435101 [GRCh38]
Chr14:102901437..102901438 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1085-12C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV002588234] Chr14:102431784 [GRCh38]
Chr14:102898121 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1236G>T (p.Ser412=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002587335] Chr14:102431947 [GRCh38]
Chr14:102898284 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2505C>T (p.Ser835=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003071186] Chr14:102438132 [GRCh38]
Chr14:102904469 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2712C>G (p.Ala904=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003050976] Chr14:102440569 [GRCh38]
Chr14:102906906 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2034C>T (p.Ser678=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002611108] Chr14:102434851 [GRCh38]
Chr14:102901188 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.916G>A (p.Glu306Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003051452] Chr14:102425256 [GRCh38]
Chr14:102891593 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3816C>T (p.Val1272=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003068188] Chr14:102497005 [GRCh38]
Chr14:102963342 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.103G>A (p.Val35Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003070192] Chr14:102376824 [GRCh38]
Chr14:102843161 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.716G>T (p.Gly239Val) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003072462] Chr14:102425056 [GRCh38]
Chr14:102891393 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3298G>A (p.Ala1100Thr) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003072693] Chr14:102449851 [GRCh38]
Chr14:102916188 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1617G>A (p.Gln539=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003073010] Chr14:102434434 [GRCh38]
Chr14:102900771 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.315A>G (p.Gln105=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV002610529] Chr14:102407433 [GRCh38]
Chr14:102873770 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3235A>G (p.Ser1079Gly) single nucleotide variant not provided [RCV003214161] Chr14:102449788 [GRCh38]
Chr14:102916125 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2050C>A (p.Leu684Ile) single nucleotide variant Inborn genetic diseases [RCV003212197] Chr14:102434867 [GRCh38]
Chr14:102901204 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1805G>A (p.Cys602Tyr) single nucleotide variant Inborn genetic diseases [RCV003197422] Chr14:102434622 [GRCh38]
Chr14:102900959 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.163G>A (p.Gly55Ser) single nucleotide variant Inborn genetic diseases [RCV003175416]|not provided [RCV003317666] Chr14:102376884 [GRCh38]
Chr14:102843221 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1597G>A (p.Glu533Lys) single nucleotide variant Inborn genetic diseases [RCV003203774] Chr14:102434414 [GRCh38]
Chr14:102900751 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.4192A>G (p.Met1398Val) single nucleotide variant not provided [RCV003327769] Chr14:102498213 [GRCh38]
Chr14:102964550 [GRCh37]
Chr14:14q32.31		 uncertain significance
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 copy number loss Neurodevelopmental disorder [RCV003327606] Chr14:102263440..106874929 [GRCh38]
Chr14:14q32.31-32.33		 pathogenic
NM_014844.5(TECPR2):c.1117_1126dup (p.His376fs) duplication Hereditary spastic paraplegia 49 [RCV003340745] Chr14:102431827..102431828 [GRCh38]
Chr14:102898164..102898165 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.2896T>A (p.Cys966Ser) single nucleotide variant Inborn genetic diseases [RCV003345737] Chr14:102443790 [GRCh38]
Chr14:102910127 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1736G>A (p.Arg579Gln) single nucleotide variant Inborn genetic diseases [RCV003374429] Chr14:102434553 [GRCh38]
Chr14:102900890 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2935G>A (p.Glu979Lys) single nucleotide variant Inborn genetic diseases [RCV003369289] Chr14:102445807 [GRCh38]
Chr14:102912144 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1191del (p.Met398fs) deletion Hereditary spastic paraplegia 49 [RCV003875669] Chr14:102431901 [GRCh38]
Chr14:102898238 [GRCh37]
Chr14:14q32.31		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1 copy number loss not provided [RCV003483217] Chr14:101024609..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33		 pathogenic
NM_014844.5(TECPR2):c.4017C>T (p.Val1339=) single nucleotide variant not provided [RCV003400639] Chr14:102497655 [GRCh38]
Chr14:102963992 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.952-17_952-6del deletion Hereditary spastic paraplegia 49 [RCV003825253] Chr14:102428223..102428234 [GRCh38]
Chr14:102894560..102894571 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1249G>A (p.Asp417Asn) single nucleotide variant not provided [RCV003400638] Chr14:102431960 [GRCh38]
Chr14:102898297 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2604G>A (p.Gln868=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649714] Chr14:102440461 [GRCh38]
Chr14:102906798 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1084+13T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653759] Chr14:102428395 [GRCh38]
Chr14:102894732 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.190del (p.Leu64fs) deletion Hereditary spastic paraplegia 49 [RCV003653709] Chr14:102376910 [GRCh38]
Chr14:102843247 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.1743G>A (p.Leu581=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003654033] Chr14:102434560 [GRCh38]
Chr14:102900897 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2841G>A (p.Val947=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649516] Chr14:102443735 [GRCh38]
Chr14:102910072 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.951+20C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649530] Chr14:102425311 [GRCh38]
Chr14:102891648 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2349G>A (p.Leu783=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652974] Chr14:102435166 [GRCh38]
Chr14:102901503 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3407-12C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653029] Chr14:102452382 [GRCh38]
Chr14:102918719 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3317-15A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649934] Chr14:102450545 [GRCh38]
Chr14:102916882 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3027T>G (p.Thr1009=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653988] Chr14:102445899 [GRCh38]
Chr14:102912236 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3932-16C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651496] Chr14:102497554 [GRCh38]
Chr14:102963891 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2358G>A (p.Leu786=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651531] Chr14:102435175 [GRCh38]
Chr14:102901512 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-15_952-14insG insertion Hereditary spastic paraplegia 49 [RCV003651800] Chr14:102428235..102428236 [GRCh38]
Chr14:102894572..102894573 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3407-7T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653891] Chr14:102452387 [GRCh38]
Chr14:102918724 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1626T>G (p.Thr542=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653898] Chr14:102434443 [GRCh38]
Chr14:102900780 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2478G>C (p.Leu826=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003654054] Chr14:102438105 [GRCh38]
Chr14:102904442 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3789+19G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003825260] Chr14:102465308 [GRCh38]
Chr14:102931645 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2463G>A (p.Lys821=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649722] Chr14:102438090 [GRCh38]
Chr14:102904427 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3076-13C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650097] Chr14:102449616 [GRCh38]
Chr14:102915953 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1167T>A (p.Ser389=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653907] Chr14:102431878 [GRCh38]
Chr14:102898215 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1812A>C (p.Ala604=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649775] Chr14:102434629 [GRCh38]
Chr14:102900966 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1084+11A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652973] Chr14:102428393 [GRCh38]
Chr14:102894730 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.639-13C>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649966] Chr14:102424966 [GRCh38]
Chr14:102891303 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1362G>A (p.Gln454=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653165] Chr14:102432073 [GRCh38]
Chr14:102898410 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3790-13T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003654073] Chr14:102496966 [GRCh38]
Chr14:102963303 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4155C>T (p.Ser1385=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003654167] Chr14:102498176 [GRCh38]
Chr14:102964513 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+18C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650058] Chr14:102438223 [GRCh38]
Chr14:102904560 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.480+13T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653752] Chr14:102408632 [GRCh38]
Chr14:102874969 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3063C>T (p.Asp1021=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003654170] Chr14:102445935 [GRCh38]
Chr14:102912272 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3317-6T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650257] Chr14:102450554 [GRCh38]
Chr14:102916891 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2152T>C (p.Leu718=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652403] Chr14:102434969 [GRCh38]
Chr14:102901306 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2752+11G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652787] Chr14:102440620 [GRCh38]
Chr14:102906957 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4082-17G>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652512] Chr14:102498086 [GRCh38]
Chr14:102964423 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4032C>A (p.Pro1344=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652517] Chr14:102497670 [GRCh38]
Chr14:102964007 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3690C>G (p.Ala1230=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652901] Chr14:102465190 [GRCh38]
Chr14:102931527 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2446T>C (p.Leu816=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650888] Chr14:102438073 [GRCh38]
Chr14:102904410 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3550C>T (p.Leu1184=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650900] Chr14:102452537 [GRCh38]
Chr14:102918874 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2589C>A (p.Leu863=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653802] Chr14:102440446 [GRCh38]
Chr14:102906783 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2382C>G (p.Leu794=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653968] Chr14:102435199 [GRCh38]
Chr14:102901536 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3933G>C (p.Gly1311=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650969] Chr14:102497571 [GRCh38]
Chr14:102963908 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+13G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653062] Chr14:102438218 [GRCh38]
Chr14:102904555 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3640+14G>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653130] Chr14:102452641 [GRCh38]
Chr14:102918978 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.220-15T>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653135] Chr14:102407323 [GRCh38]
Chr14:102873660 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3406+11C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653942] Chr14:102450660 [GRCh38]
Chr14:102916997 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2283G>A (p.Gly761=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649514] Chr14:102435100 [GRCh38]
Chr14:102901437 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3507C>A (p.Ala1169=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653762] Chr14:102452494 [GRCh38]
Chr14:102918831 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3931+8C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003654144] Chr14:102497128 [GRCh38]
Chr14:102963465 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2554C>T (p.Gln852Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653729] Chr14:102438181 [GRCh38]
Chr14:102904518 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.945C>A (p.Val315=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650851] Chr14:102425285 [GRCh38]
Chr14:102891622 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2265G>A (p.Glu755=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651625] Chr14:102435082 [GRCh38]
Chr14:102901419 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2394+18G>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649634] Chr14:102435229 [GRCh38]
Chr14:102901566 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2586T>C (p.Leu862=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649639] Chr14:102440443 [GRCh38]
Chr14:102906780 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1359C>T (p.Asp453=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650882] Chr14:102432070 [GRCh38]
Chr14:102898407 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3318C>T (p.Gly1106=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003829802] Chr14:102450561 [GRCh38]
Chr14:102916898 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.348+17T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651403] Chr14:102407483 [GRCh38]
Chr14:102873820 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.789G>A (p.Gly263=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651670] Chr14:102425129 [GRCh38]
Chr14:102891466 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3931+17_3931+18del deletion Hereditary spastic paraplegia 49 [RCV003649644] Chr14:102497137..102497138 [GRCh38]
Chr14:102963474..102963475 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3480C>G (p.Pro1160=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650980] Chr14:102452467 [GRCh38]
Chr14:102918804 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2124G>A (p.Gln708=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651724] Chr14:102434941 [GRCh38]
Chr14:102901278 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2850G>A (p.Leu950=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650981] Chr14:102443744 [GRCh38]
Chr14:102910081 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-13_952-6del deletion Hereditary spastic paraplegia 49 [RCV003651773] Chr14:102428223..102428230 [GRCh38]
Chr14:102894560..102894567 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.349-13C>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650053] Chr14:102408475 [GRCh38]
Chr14:102874812 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2524C>T (p.Leu842=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649904] Chr14:102438151 [GRCh38]
Chr14:102904488 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3948G>A (p.Gln1316=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651054] Chr14:102497586 [GRCh38]
Chr14:102963923 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1593T>C (p.Asn531=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651073] Chr14:102434410 [GRCh38]
Chr14:102900747 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3732G>A (p.Gln1244=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651075] Chr14:102465232 [GRCh38]
Chr14:102931569 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-16_952-15insG insertion Hereditary spastic paraplegia 49 [RCV003649481] Chr14:102428234..102428235 [GRCh38]
Chr14:102894571..102894572 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3076-11C>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650183] Chr14:102449618 [GRCh38]
Chr14:102915955 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4071G>T (p.Ser1357=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650217] Chr14:102497709 [GRCh38]
Chr14:102964046 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3153C>T (p.Ala1051=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650222] Chr14:102449706 [GRCh38]
Chr14:102916043 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.684A>G (p.Gln228=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651066] Chr14:102425024 [GRCh38]
Chr14:102891361 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1245C>T (p.Ser415=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651131] Chr14:102431956 [GRCh38]
Chr14:102898293 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3396C>T (p.Pro1132=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649578] Chr14:102450639 [GRCh38]
Chr14:102916976 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+26_2578+57dup duplication Hereditary spastic paraplegia 49 [RCV003650295] Chr14:102438221..102438222 [GRCh38]
Chr14:102904558..102904559 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.762G>T (p.Thr254=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650070] Chr14:102425102 [GRCh38]
Chr14:102891439 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3317-14_3317-11del deletion Hereditary spastic paraplegia 49 [RCV003652312] Chr14:102450544..102450547 [GRCh38]
Chr14:102916881..102916884 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3075+16T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650846] Chr14:102445963 [GRCh38]
Chr14:102912300 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3076-17T>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003877909] Chr14:102449612 [GRCh38]
Chr14:102915949 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2934-12_2934-10del microsatellite Hereditary spastic paraplegia 49 [RCV003829632] Chr14:102445789..102445791 [GRCh38]
Chr14:102912126..102912128 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3931+13A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651278] Chr14:102497133 [GRCh38]
Chr14:102963470 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.282A>C (p.Ala94=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652372] Chr14:102407400 [GRCh38]
Chr14:102873737 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.171C>A (p.Leu57=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003878731] Chr14:102376892 [GRCh38]
Chr14:102843229 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2868C>G (p.Leu956=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003829071] Chr14:102443762 [GRCh38]
Chr14:102910099 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3641-12del deletion Hereditary spastic paraplegia 49 [RCV003649484] Chr14:102465129 [GRCh38]
Chr14:102931466 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3790-15C>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649495] Chr14:102496964 [GRCh38]
Chr14:102963301 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.738T>C (p.Asp246=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651557] Chr14:102425078 [GRCh38]
Chr14:102891415 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3076-18C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651576] Chr14:102449611 [GRCh38]
Chr14:102915948 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.349-19T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649527] Chr14:102408469 [GRCh38]
Chr14:102874806 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3585C>G (p.Leu1195=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649549] Chr14:102452572 [GRCh38]
Chr14:102918909 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3921G>A (p.Glu1307=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651293] Chr14:102497110 [GRCh38]
Chr14:102963447 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2787A>T (p.Val929=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651266] Chr14:102443681 [GRCh38]
Chr14:102910018 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3407-10del deletion Hereditary spastic paraplegia 49 [RCV003651597] Chr14:102452381 [GRCh38]
Chr14:102918718 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.426G>A (p.Leu142=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652505] Chr14:102408565 [GRCh38]
Chr14:102874902 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2688T>C (p.Phe896=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651678] Chr14:102440545 [GRCh38]
Chr14:102906882 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3317-12T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651633] Chr14:102450548 [GRCh38]
Chr14:102916885 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3150G>A (p.Val1050=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651697] Chr14:102449703 [GRCh38]
Chr14:102916040 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.183C>T (p.Cys61=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652900] Chr14:102376904 [GRCh38]
Chr14:102843241 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3885G>A (p.Gly1295=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651268] Chr14:102497074 [GRCh38]
Chr14:102963411 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1779del (p.Asp593fs) deletion Hereditary spastic paraplegia 49 [RCV003652622] Chr14:102434596 [GRCh38]
Chr14:102900933 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.3460C>T (p.Gln1154Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649835] Chr14:102452447 [GRCh38]
Chr14:102918784 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.1305G>A (p.Lys435=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649847] Chr14:102432016 [GRCh38]
Chr14:102898353 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2934-7T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649878] Chr14:102445799 [GRCh38]
Chr14:102912136 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-7_952-5del deletion Hereditary spastic paraplegia 49 [RCV003652673] Chr14:102428243..102428245 [GRCh38]
Chr14:102894580..102894582 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1418-13T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652921] Chr14:102434222 [GRCh38]
Chr14:102900559 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3738C>G (p.Leu1246=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652922] Chr14:102465238 [GRCh38]
Chr14:102931575 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3316+17A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652975] Chr14:102449886 [GRCh38]
Chr14:102916223 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3795C>G (p.Ala1265=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650883] Chr14:102496984 [GRCh38]
Chr14:102963321 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2853A>T (p.Thr951=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652981] Chr14:102443747 [GRCh38]
Chr14:102910084 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4219G>A (p.Glu1407Lys) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651395] Chr14:102498240 [GRCh38]
Chr14:102964577 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.952-19_952-18insG insertion Hereditary spastic paraplegia 49 [RCV003880276] Chr14:102428231..102428232 [GRCh38]
Chr14:102894568..102894569 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.250C>T (p.Leu84=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649967] Chr14:102407368 [GRCh38]
Chr14:102873705 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.555G>T (p.Leu185=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652299] Chr14:102414710 [GRCh38]
Chr14:102881047 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3877C>A (p.Arg1293=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653015] Chr14:102497066 [GRCh38]
Chr14:102963403 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-4A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653025] Chr14:102428246 [GRCh38]
Chr14:102894583 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.951+12_951+15del deletion Hereditary spastic paraplegia 49 [RCV003829036] Chr14:102425302..102425305 [GRCh38]
Chr14:102891639..102891642 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3125C>T (p.Thr1042Met) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649945] Chr14:102449678 [GRCh38]
Chr14:102916015 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3891C>G (p.Thr1297=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650961] Chr14:102497080 [GRCh38]
Chr14:102963417 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3317-20T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651410] Chr14:102450540 [GRCh38]
Chr14:102916877 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2753-20T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653030] Chr14:102443627 [GRCh38]
Chr14:102909964 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3075+1G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649471] Chr14:102445948 [GRCh38]
Chr14:102912285 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.2579-18G>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649483] Chr14:102440418 [GRCh38]
Chr14:102906755 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2752+16G>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649486] Chr14:102440625 [GRCh38]
Chr14:102906962 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2579-14T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649490] Chr14:102440422 [GRCh38]
Chr14:102906759 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+20G>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649491] Chr14:102438225 [GRCh38]
Chr14:102904562 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2752+20dup duplication Hereditary spastic paraplegia 49 [RCV003649524] Chr14:102440628..102440629 [GRCh38]
Chr14:102906965..102906966 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2463_2526del (p.Lys821fs) deletion Hereditary spastic paraplegia 49 [RCV003650004] Chr14:102438090..102438153 [GRCh38]
Chr14:102904427..102904490 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.2476C>T (p.Leu826=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003830351] Chr14:102438103 [GRCh38]
Chr14:102904440 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3417G>T (p.Leu1139=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652356] Chr14:102452404 [GRCh38]
Chr14:102918741 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.480+16G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653067] Chr14:102408635 [GRCh38]
Chr14:102874972 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4081+11G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649541] Chr14:102497730 [GRCh38]
Chr14:102964067 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[5] microsatellite Hereditary spastic paraplegia 49 [RCV003651078] Chr14:102438214..102438215 [GRCh38]
Chr14:102904551..102904552 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2025G>C (p.Val675=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652424] Chr14:102434842 [GRCh38]
Chr14:102901179 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1653G>A (p.Glu551=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652797] Chr14:102434470 [GRCh38]
Chr14:102900807 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2394+13G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652769] Chr14:102435224 [GRCh38]
Chr14:102901561 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1855del (p.Asp619fs) deletion Hereditary spastic paraplegia 49 [RCV003649564] Chr14:102434671 [GRCh38]
Chr14:102901008 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.952-15T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003650112] Chr14:102428235 [GRCh38]
Chr14:102894572 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1085-14C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652808] Chr14:102431782 [GRCh38]
Chr14:102898119 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2487A>G (p.Lys829=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003831285] Chr14:102438114 [GRCh38]
Chr14:102904451 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3705T>A (p.Gly1235=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652478] Chr14:102465205 [GRCh38]
Chr14:102931542 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3225G>A (p.Gln1075=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652494] Chr14:102449778 [GRCh38]
Chr14:102916115 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3407-13C>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003829171] Chr14:102452381 [GRCh38]
Chr14:102918718 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2394+11T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649610] Chr14:102435222 [GRCh38]
Chr14:102901559 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.945C>G (p.Val315=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003651136] Chr14:102425285 [GRCh38]
Chr14:102891622 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1913del (p.Thr638fs) deletion Hereditary spastic paraplegia 49 [RCV003652518] Chr14:102434730 [GRCh38]
Chr14:102901067 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.2376G>A (p.Gly792=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652525] Chr14:102435193 [GRCh38]
Chr14:102901530 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4113C>T (p.Gly1371=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653095] Chr14:102498134 [GRCh38]
Chr14:102964471 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3186A>G (p.Ala1062=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653106] Chr14:102449739 [GRCh38]
Chr14:102916076 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.387C>T (p.Ser129=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003653147] Chr14:102408526 [GRCh38]
Chr14:102874863 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1239C>G (p.Leu413=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003649655] Chr14:102431950 [GRCh38]
Chr14:102898287 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.220-10G>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003652548] Chr14:102407328 [GRCh38]
Chr14:102873665 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.481-10dup duplication Hereditary spastic paraplegia 49 [RCV003652887] Chr14:102414623..102414624 [GRCh38]
Chr14:102880960..102880961 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2753-11C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003878458] Chr14:102443636 [GRCh38]
Chr14:102909973 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.983_990del (p.Asp328fs) deletion Hereditary spastic paraplegia 49 [RCV003487102] Chr14:102428278..102428285 [GRCh38]
Chr14:102894615..102894622 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.2727C>T (p.Thr909=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003878690] Chr14:102440584 [GRCh38]
Chr14:102906921 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3863G>A (p.Trp1288Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003828323] Chr14:102497052 [GRCh38]
Chr14:102963389 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.3336G>A (p.Val1112=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536394] Chr14:102450579 [GRCh38]
Chr14:102916916 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3246_3247del (p.Val1083fs) deletion Hereditary spastic paraplegia 49 [RCV003536355] Chr14:102449797..102449798 [GRCh38]
Chr14:102916134..102916135 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.1534del (p.Leu512fs) deletion Hereditary spastic paraplegia 49 [RCV003536593] Chr14:102434350 [GRCh38]
Chr14:102900687 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.298A>G (p.Arg100Gly) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536602] Chr14:102407416 [GRCh38]
Chr14:102873753 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.219+8T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536573] Chr14:102376948 [GRCh38]
Chr14:102843285 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3849G>A (p.Val1283=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536604] Chr14:102497038 [GRCh38]
Chr14:102963375 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.348+15T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536957] Chr14:102407481 [GRCh38]
Chr14:102873818 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4081+17A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003811654] Chr14:102497736 [GRCh38]
Chr14:102964073 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3932-17A>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003849666] Chr14:102497553 [GRCh38]
Chr14:102963890 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3407-17A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003810716] Chr14:102452377 [GRCh38]
Chr14:102918714 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4081+12G>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003535422] Chr14:102497731 [GRCh38]
Chr14:102964068 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3075+14T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003535474] Chr14:102445961 [GRCh38]
Chr14:102912298 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3501C>G (p.Pro1167=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003535514] Chr14:102452488 [GRCh38]
Chr14:102918825 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4081+18G>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003836058] Chr14:102497737 [GRCh38]
Chr14:102964074 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3641-12_3641-9del deletion Hereditary spastic paraplegia 49 [RCV003839645] Chr14:102465126..102465129 [GRCh38]
Chr14:102931463..102931466 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1509C>T (p.Asp503=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537000] Chr14:102434326 [GRCh38]
Chr14:102900663 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1418-14T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537628] Chr14:102434221 [GRCh38]
Chr14:102900558 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.351T>A (p.Leu117=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003816991] Chr14:102408490 [GRCh38]
Chr14:102874827 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2913G>A (p.Gln971=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003839531] Chr14:102443807 [GRCh38]
Chr14:102910144 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.481-13C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003535075] Chr14:102414623 [GRCh38]
Chr14:102880960 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1418-15C>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538878] Chr14:102434220 [GRCh38]
Chr14:102900557 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-17T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003535068] Chr14:102428233 [GRCh38]
Chr14:102894570 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.45G>C (p.Pro15=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538139] Chr14:102376766 [GRCh38]
Chr14:102843103 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.480+14C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003850010] Chr14:102408633 [GRCh38]
Chr14:102874970 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.306A>G (p.Ala102=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536155] Chr14:102407424 [GRCh38]
Chr14:102873761 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.951+1G>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536909] Chr14:102425292 [GRCh38]
Chr14:102891629 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.2934-11C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003535240] Chr14:102445795 [GRCh38]
Chr14:102912132 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+12C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537674] Chr14:102438217 [GRCh38]
Chr14:102904554 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2933+19C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537702] Chr14:102443846 [GRCh38]
Chr14:102910183 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.220-11C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538206] Chr14:102407327 [GRCh38]
Chr14:102873664 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1417+8C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003814999] Chr14:102432136 [GRCh38]
Chr14:102898473 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2790G>A (p.Lys930=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003535270] Chr14:102443684 [GRCh38]
Chr14:102910021 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2752+16G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003535293] Chr14:102440625 [GRCh38]
Chr14:102906962 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.90T>G (p.Gly30=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538297] Chr14:102376811 [GRCh38]
Chr14:102843148 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2946T>C (p.Ala982=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536391] Chr14:102445818 [GRCh38]
Chr14:102912155 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-28G>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003539062] Chr14:102428222 [GRCh38]
Chr14:102894559 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4165G>A (p.Gly1389Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536437] Chr14:102498186 [GRCh38]
Chr14:102964523 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2653C>A (p.Arg885=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003539090] Chr14:102440510 [GRCh38]
Chr14:102906847 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2568C>T (p.Val856=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536485] Chr14:102438195 [GRCh38]
Chr14:102904532 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.481-17C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537673] Chr14:102414619 [GRCh38]
Chr14:102880956 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.481-15G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537845] Chr14:102414621 [GRCh38]
Chr14:102880958 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3640+14G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537883] Chr14:102452641 [GRCh38]
Chr14:102918978 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.480+17A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003539087] Chr14:102408636 [GRCh38]
Chr14:102874973 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2532G>A (p.Trp844Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536980] Chr14:102438159 [GRCh38]
Chr14:102904496 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.697T>C (p.Leu233=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003535066] Chr14:102425037 [GRCh38]
Chr14:102891374 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+1G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003811528] Chr14:102438206 [GRCh38]
Chr14:102904543 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.1347A>C (p.Ser449=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538985] Chr14:102432058 [GRCh38]
Chr14:102898395 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.102C>T (p.Ile34=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003539239] Chr14:102376823 [GRCh38]
Chr14:102843160 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2460G>A (p.Glu820=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537524] Chr14:102438087 [GRCh38]
Chr14:102904424 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.941_942del (p.Thr314fs) microsatellite Hereditary spastic paraplegia 49 [RCV003537022] Chr14:102425278..102425279 [GRCh38]
Chr14:102891615..102891616 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.952-4del deletion Hereditary spastic paraplegia 49 [RCV003539140] Chr14:102428246 [GRCh38]
Chr14:102894583 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.639-20T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003539250] Chr14:102424959 [GRCh38]
Chr14:102891296 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3406+17C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538320] Chr14:102450666 [GRCh38]
Chr14:102917003 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3882C>A (p.Thr1294=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538270] Chr14:102497071 [GRCh38]
Chr14:102963408 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2753-15C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536989] Chr14:102443632 [GRCh38]
Chr14:102909969 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.951+18A>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536991] Chr14:102425309 [GRCh38]
Chr14:102891646 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.298A>C (p.Arg100=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537632] Chr14:102407416 [GRCh38]
Chr14:102873753 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3931+11G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537575] Chr14:102497131 [GRCh38]
Chr14:102963468 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3078G>A (p.Val1026=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536043] Chr14:102449631 [GRCh38]
Chr14:102915968 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3483C>T (p.Ser1161=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537652] Chr14:102452470 [GRCh38]
Chr14:102918807 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.975A>G (p.Gly325=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537793] Chr14:102428273 [GRCh38]
Chr14:102894610 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-6del deletion Hereditary spastic paraplegia 49 [RCV003537853] Chr14:102428223 [GRCh38]
Chr14:102894560 [GRCh37]
Chr14:14q32.31		 benign
NM_014844.5(TECPR2):c.1155G>A (p.Gly385=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537812] Chr14:102431866 [GRCh38]
Chr14:102898203 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.51C>G (p.Tyr17Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537835] Chr14:102376772 [GRCh38]
Chr14:102843109 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.759C>T (p.Ala253=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536350] Chr14:102425099 [GRCh38]
Chr14:102891436 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3407-20A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537958] Chr14:102452374 [GRCh38]
Chr14:102918711 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2136C>A (p.Pro712=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537961] Chr14:102434953 [GRCh38]
Chr14:102901290 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2676C>T (p.Pro892=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538080] Chr14:102440533 [GRCh38]
Chr14:102906870 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-16T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003537950] Chr14:102428234 [GRCh38]
Chr14:102894571 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3640+8C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003834767] Chr14:102452635 [GRCh38]
Chr14:102918972 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1743G>T (p.Leu581=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538902] Chr14:102434560 [GRCh38]
Chr14:102900897 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.117G>C (p.Thr39=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538141] Chr14:102376838 [GRCh38]
Chr14:102843175 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2579-4A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538053] Chr14:102440432 [GRCh38]
Chr14:102906769 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3932-18G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538122] Chr14:102497552 [GRCh38]
Chr14:102963889 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.171C>T (p.Leu57=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538863] Chr14:102376892 [GRCh38]
Chr14:102843229 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2394+15G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538160] Chr14:102435226 [GRCh38]
Chr14:102901563 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2578+12C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003538909] Chr14:102438217 [GRCh38]
Chr14:102904554 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.951+14C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003535368] Chr14:102425305 [GRCh38]
Chr14:102891642 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2934-12C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003849844] Chr14:102445794 [GRCh38]
Chr14:102912131 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-18_952-6del deletion Hereditary spastic paraplegia 49 [RCV003535468] Chr14:102428223..102428235 [GRCh38]
Chr14:102894560..102894572 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4128C>T (p.Leu1376=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003535481] Chr14:102498149 [GRCh38]
Chr14:102964486 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1137A>G (p.Gln379=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003832924] Chr14:102431848 [GRCh38]
Chr14:102898185 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3345T>C (p.Arg1115=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536618] Chr14:102450588 [GRCh38]
Chr14:102916925 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1071A>T (p.Gly357=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536305] Chr14:102428369 [GRCh38]
Chr14:102894706 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4082-20_4082-17del deletion Hereditary spastic paraplegia 49 [RCV003851632] Chr14:102498081..102498084 [GRCh38]
Chr14:102964418..102964421 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.147G>T (p.Ala49=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003839061] Chr14:102376868 [GRCh38]
Chr14:102843205 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3259G>A (p.Gly1087Ser) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003535483] Chr14:102449812 [GRCh38]
Chr14:102916149 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2752+15C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003536654] Chr14:102440624 [GRCh38]
Chr14:102906961 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4101G>A (p.Leu1367=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003836234] Chr14:102498122 [GRCh38]
Chr14:102964459 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2753-16C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003535120] Chr14:102443631 [GRCh38]
Chr14:102909968 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.271C>T (p.Leu91=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003535277] Chr14:102407389 [GRCh38]
Chr14:102873726 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1084+20T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003851698] Chr14:102428402 [GRCh38]
Chr14:102894739 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3317-13T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV003859885] Chr14:102450547 [GRCh38]
Chr14:102916884 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3075+19G>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003844728] Chr14:102445966 [GRCh38]
Chr14:102912303 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.220-9T>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003841628] Chr14:102407329 [GRCh38]
Chr14:102873666 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.4161G>C (p.Ser1387=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003867119] Chr14:102498182 [GRCh38]
Chr14:102964519 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2394+12C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003822434] Chr14:102435223 [GRCh38]
Chr14:102901560 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.795C>T (p.Val265=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003870987] Chr14:102425135 [GRCh38]
Chr14:102891472 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3180G>A (p.Lys1060=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003867006] Chr14:102449733 [GRCh38]
Chr14:102916070 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1200C>T (p.Ser400=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003857545] Chr14:102431911 [GRCh38]
Chr14:102898248 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1084+15T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003866553] Chr14:102428397 [GRCh38]
Chr14:102894734 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.291C>T (p.Ala97=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003860687] Chr14:102407409 [GRCh38]
Chr14:102873746 [GRCh37]
Chr14:14q32.31		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1 copy number loss not specified [RCV003987056] Chr14:102098959..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3 copy number gain not specified [RCV003987047] Chr14:97705251..103682578 [GRCh37]
Chr14:14q32.2-32.32		 uncertain significance
NM_014844.5(TECPR2):c.4082-6C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003844883] Chr14:102498097 [GRCh38]
Chr14:102964434 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.480+7T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003854294] Chr14:102408626 [GRCh38]
Chr14:102874963 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2933+12C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003857850] Chr14:102443839 [GRCh38]
Chr14:102910176 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2934-14C>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003843100] Chr14:102445792 [GRCh38]
Chr14:102912129 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1449C>T (p.Ser483=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003820774] Chr14:102434266 [GRCh38]
Chr14:102900603 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1085-9C>A single nucleotide variant Hereditary spastic paraplegia 49 [RCV003862665] Chr14:102431787 [GRCh38]
Chr14:102898124 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2727C>A (p.Thr909=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003846738] Chr14:102440584 [GRCh38]
Chr14:102906921 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1431G>A (p.Arg477=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003857414] Chr14:102434248 [GRCh38]
Chr14:102900585 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.3076-13C>T single nucleotide variant Hereditary spastic paraplegia 49 [RCV003858422] Chr14:102449616 [GRCh38]
Chr14:102915953 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1275T>G (p.Pro425=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003864619] Chr14:102431986 [GRCh38]
Chr14:102898323 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1860C>T (p.Ser620=) single nucleotide variant Hereditary spastic paraplegia 49 [RCV003858771] Chr14:102434677 [GRCh38]
Chr14:102901014 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2753-13A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV003858962] Chr14:102443634 [GRCh38]
Chr14:102909971 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.952-3C>A single nucleotide variant TECPR2-related disorder [RCV003949583] Chr14:102428247 [GRCh38]
Chr14:102894584 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1923_1924del (p.Glu641fs) deletion Hereditary spastic paraplegia 49 [RCV003993581] Chr14:102434740..102434741 [GRCh38]
Chr14:102901077..102901078 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.81C>T (p.Ile27=) single nucleotide variant TECPR2-related disorder [RCV003964602] Chr14:102376802 [GRCh38]
Chr14:102843139 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.2092T>G (p.Trp698Gly) single nucleotide variant not provided [RCV003885268] Chr14:102434909 [GRCh38]
Chr14:102901246 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3508_3532dup (p.Gln1178fs) duplication Hereditary spastic paraplegia 49 [RCV004555138] Chr14:102452491..102452492 [GRCh38]
Chr14:102918828..102918829 [GRCh37]
Chr14:14q32.31		 pathogenic
GRCh37/hg19 14q32.31(chr14:102749815-103192843)x3 copy number gain not provided [RCV003885460] Chr14:102749815..103192843 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3403G>A (p.Glu1135Lys) single nucleotide variant Inborn genetic diseases [RCV004469446] Chr14:102450646 [GRCh38]
Chr14:102916983 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1226G>A (p.Arg409Lys) single nucleotide variant Inborn genetic diseases [RCV004469434] Chr14:102431937 [GRCh38]
Chr14:102898274 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1573G>T (p.Asp525Tyr) single nucleotide variant Inborn genetic diseases [RCV004469436] Chr14:102434390 [GRCh38]
Chr14:102900727 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3434G>A (p.Ser1145Asn) single nucleotide variant Inborn genetic diseases [RCV004469448] Chr14:102452421 [GRCh38]
Chr14:102918758 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3760G>A (p.Ala1254Thr) single nucleotide variant Inborn genetic diseases [RCV004469449] Chr14:102465260 [GRCh38]
Chr14:102931597 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2120G>A (p.Gly707Asp) single nucleotide variant Inborn genetic diseases [RCV004469439] Chr14:102434937 [GRCh38]
Chr14:102901274 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2465A>T (p.Tyr822Phe) single nucleotide variant Inborn genetic diseases [RCV004469441] Chr14:102438092 [GRCh38]
Chr14:102904429 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2693C>T (p.Ala898Val) single nucleotide variant Inborn genetic diseases [RCV004469443] Chr14:102440550 [GRCh38]
Chr14:102906887 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3377T>C (p.Val1126Ala) single nucleotide variant Inborn genetic diseases [RCV004469445] Chr14:102450620 [GRCh38]
Chr14:102916957 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1687G>A (p.Glu563Lys) single nucleotide variant not provided [RCV004585506] Chr14:102434504 [GRCh38]
Chr14:102900841 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2354G>A (p.Arg785Gln) single nucleotide variant Inborn genetic diseases [RCV004469440] Chr14:102435171 [GRCh38]
Chr14:102901508 [GRCh37]
Chr14:14q32.31		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1 copy number loss not provided [RCV004577487] Chr14:101522804..107289470 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NC_000014.8:g.(?_102843059)_(102964594_?)del deletion Hereditary spastic paraplegia 49 [RCV004578145] Chr14:102843059..102964594 [GRCh37]
Chr14:14q32.31		 pathogenic
NC_000014.8:g.(?_102899405)_(102901470_?)del deletion Hereditary spastic paraplegia 49 [RCV004578146] Chr14:102899405..102901470 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NC_000014.8:g.(?_102873655)_(105861009_?)del deletion Herpes simplex encephalitis, susceptibility to, 3 [RCV004578149] Chr14:102873655..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NC_000014.8:g.(?_102843049)_(102931651_?)del deletion Hereditary spastic paraplegia 49 [RCV004578147] Chr14:102843049..102931651 [GRCh37]
Chr14:14q32.31		 pathogenic
NC_000014.8:g.(?_102894567)_(102898485_?)del deletion Hereditary spastic paraplegia 49 [RCV004578148] Chr14:102894567..102898485 [GRCh37]
Chr14:14q32.31		 pathogenic
NC_000014.8:g.(?_102431029)_(103397017_?)dup duplication Charcot-Marie-Tooth disease axonal type 2O [RCV004578140] Chr14:102431029..103397017 [GRCh37]
Chr14:14q32.31-32.32		 uncertain significance
NC_000014.8:g.(?_102843059)_(103397017_?)dup duplication not provided [RCV004578219] Chr14:102843059..103397017 [GRCh37]
Chr14:14q32.31-32.32		 uncertain significance
NM_014844.5(TECPR2):c.4148C>T (p.Thr1383Met) single nucleotide variant Inborn genetic diseases [RCV004676652] Chr14:102498169 [GRCh38]
Chr14:102964506 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3701G>T (p.Arg1234Met) single nucleotide variant Inborn genetic diseases [RCV004676653] Chr14:102465201 [GRCh38]
Chr14:102931538 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1273C>G (p.Pro425Ala) single nucleotide variant Inborn genetic diseases [RCV004676654] Chr14:102431984 [GRCh38]
Chr14:102898321 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1938C>G (p.Asn646Lys) single nucleotide variant Inborn genetic diseases [RCV004676655] Chr14:102434755 [GRCh38]
Chr14:102901092 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3905_3918del (p.Val1302fs) deletion Autism [RCV004698707] Chr14:102497093..102497106 [GRCh38]
Chr14:102963430..102963443 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.94C>T (p.Arg32Cys) single nucleotide variant Inborn genetic diseases [RCV004675779] Chr14:102376815 [GRCh38]
Chr14:102843152 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1592A>G (p.Asn531Ser) single nucleotide variant Inborn genetic diseases [RCV004675781] Chr14:102434409 [GRCh38]
Chr14:102900746 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.817C>T (p.Arg273Cys) single nucleotide variant Inborn genetic diseases [RCV004675782] Chr14:102425157 [GRCh38]
Chr14:102891494 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2177C>T (p.Thr726Ile) single nucleotide variant not provided [RCV004794035] Chr14:102434994 [GRCh38]
Chr14:102901331 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2846C>A (p.Ala949Glu) single nucleotide variant Hereditary spastic paraplegia 49 [RCV004788304] Chr14:102443740 [GRCh38]
Chr14:102910077 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.4104G>A (p.Trp1368Ter) single nucleotide variant not provided [RCV004729392] Chr14:102498125 [GRCh38]
Chr14:102964462 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.2931C>T (p.Val977=) single nucleotide variant not provided [RCV004727398] Chr14:102443825 [GRCh38]
Chr14:102910162 [GRCh37]
Chr14:14q32.31		 likely benign
NM_014844.5(TECPR2):c.1994del (p.Pro665fs) deletion Hereditary spastic paraplegia 49 [RCV005006997] Chr14:102434810 [GRCh38]
Chr14:102901147 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.3502G>T (p.Glu1168Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV005007003] Chr14:102452489 [GRCh38]
Chr14:102918826 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.65C>T (p.Ala22Val) single nucleotide variant Inborn genetic diseases [RCV004971578] Chr14:102376786 [GRCh38]
Chr14:102843123 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1531G>A (p.Val511Ile) single nucleotide variant Inborn genetic diseases [RCV004971583] Chr14:102434348 [GRCh38]
Chr14:102900685 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3250A>C (p.Asn1084His) single nucleotide variant Inborn genetic diseases [RCV004971576] Chr14:102449803 [GRCh38]
Chr14:102916140 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1045A>G (p.Ile349Val) single nucleotide variant Inborn genetic diseases [RCV004971577] Chr14:102428343 [GRCh38]
Chr14:102894680 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.2506G>A (p.Ala836Thr) single nucleotide variant Inborn genetic diseases [RCV004971582] Chr14:102438133 [GRCh38]
Chr14:102904470 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.3521A>T (p.Tyr1174Phe) single nucleotide variant Inborn genetic diseases [RCV004971580] Chr14:102452508 [GRCh38]
Chr14:102918845 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1084+2T>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV005006994] Chr14:102428384 [GRCh38]
Chr14:102894721 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.1483del (p.Asp495fs) deletion Hereditary spastic paraplegia 49 [RCV005006996] Chr14:102434297 [GRCh38]
Chr14:102900634 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.3790-2A>C single nucleotide variant Hereditary spastic paraplegia 49 [RCV005007005] Chr14:102496977 [GRCh38]
Chr14:102963314 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.3049del (p.Gln1017fs) deletion Hereditary spastic paraplegia 49 [RCV005007001] Chr14:102445918 [GRCh38]
Chr14:102912255 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.3641-2A>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV005007004] Chr14:102465139 [GRCh38]
Chr14:102931476 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.951+2T>G single nucleotide variant Hereditary spastic paraplegia 49 [RCV005006993] Chr14:102425293 [GRCh38]
Chr14:102891630 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.1275del (p.Leu427fs) deletion Hereditary spastic paraplegia 49 [RCV005006995] Chr14:102431986 [GRCh38]
Chr14:102898323 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.2511_2578+3del deletion Hereditary spastic paraplegia 49 [RCV005006998] Chr14:102438135..102438205 [GRCh38]
Chr14:102904472..102904542 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.2661G>A (p.Trp887Ter) single nucleotide variant Hereditary spastic paraplegia 49 [RCV005007000] Chr14:102440518 [GRCh38]
Chr14:102906855 [GRCh37]
Chr14:14q32.31		 likely pathogenic
NM_014844.5(TECPR2):c.3332_3333del (p.His1111fs) deletion Hereditary spastic paraplegia 49 [RCV005007002] Chr14:102450575..102450576 [GRCh38]
Chr14:102916912..102916913 [GRCh37]
Chr14:14q32.31		 pathogenic
NM_014844.5(TECPR2):c.139T>C (p.Tyr47His) single nucleotide variant Inborn genetic diseases [RCV004971579] Chr14:102376860 [GRCh38]
Chr14:102843197 [GRCh37]
Chr14:14q32.31		 uncertain significance
NM_014844.5(TECPR2):c.1923_1926delinsT (p.Glu641_Val642delinsAsp) indel Hereditary spastic paraplegia 49 [RCV004820999] Chr14:102434740..102434743 [GRCh38]
Chr14:102901077..102901080 [GRCh37]
Chr14:14q32.31		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3415
Count of miRNA genes:1211
Interacting mature miRNAs:1534
Transcripts:ENST00000359520, ENST00000557786, ENST00000558678, ENST00000559124, ENST00000560060, ENST00000561099, ENST00000561228
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597272888GWAS1368962_Hinosine-5'-monophosphate dehydrogenase 2 measurement QTL GWAS1368962 (human)1e-17inosine-5'-monophosphate dehydrogenase 2 measurement14102497303102497304Human
597257309GWAS1353383_Hblood protein measurement QTL GWAS1353383 (human)2e-09blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)14102413207102413208Human
597179709GWAS1275783_Hprotein measurement QTL GWAS1275783 (human)1e-105protein measurement14102460697102460698Human
406938246GWAS587222_Hhemoglobin measurement QTL GWAS587222 (human)8e-11hemoglobin measurementhemoglobin measurement (CMO:0000508)14102482995102482996Human
597179711GWAS1275785_Hprotein measurement QTL GWAS1275785 (human)1e-346protein measurement14102499100102499101Human
406968750GWAS617726_Hplatelet count QTL GWAS617726 (human)5e-18platelet quantity (VT:0003179)platelet count (CMO:0000029)14102437842102437843Human
597170647GWAS1266721_Hgrip strength measurement QTL GWAS1266721 (human)0.000002grip strength measurement14102478380102478381Human
597318677GWAS1414751_HX-11308 measurement QTL GWAS1414751 (human)0.000001X-11308 measurement14102496878102496879Human
597287691GWAS1383765_Hhemoglobin measurement QTL GWAS1383765 (human)5e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)14102480224102480226Human
597272682GWAS1368756_Hinosine-5'-monophosphate dehydrogenase 1 measurement QTL GWAS1368756 (human)2e-33inosine-5'-monophosphate dehydrogenase 1 measurement14102497303102497304Human
597584682GWAS1641542_Hmean corpuscular hemoglobin concentration QTL GWAS1641542 (human)1e-18mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)14102495004102495005Human
597290830GWAS1386904_Hsize QTL GWAS1386904 (human)9e-12size14102462654102462655Human
406964952GWAS613928_Hbirdshot chorioretinopathy QTL GWAS613928 (human)0.0000002birdshot chorioretinopathy14102379530102379531Human
596953261GWAS1072780_Hsize QTL GWAS1072780 (human)9e-12size14102462654102462655Human
597583463GWAS1640323_Hmean corpuscular hemoglobin concentration QTL GWAS1640323 (human)3e-14mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)14102495004102495005Human
597237187GWAS1333261_Happendicular lean mass QTL GWAS1333261 (human)8e-14appendicular lean mass14102432521102432522Human
597299494GWAS1395568_Hinosine-5'-monophosphate dehydrogenase 1 measurement QTL GWAS1395568 (human)2e-37inosine-5'-monophosphate dehydrogenase 1 measurement14102445570102445571Human
597179717GWAS1275791_Hprotein measurement QTL GWAS1275791 (human)7e-54protein measurement14102404579102404580Human
597299495GWAS1395569_Hinosine-5'-monophosphate dehydrogenase 2 measurement QTL GWAS1395569 (human)3e-17inosine-5'-monophosphate dehydrogenase 2 measurement14102430336102430337Human
597265447GWAS1361521_Hinosine-5'-monophosphate dehydrogenase 1 measurement QTL GWAS1361521 (human)5e-15inosine-5'-monophosphate dehydrogenase 1 measurement14102484083102484084Human

Markers in Region
G27983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714102,968,118 - 102,968,243UniSTSGRCh37
Build 3614102,037,871 - 102,037,996RGDNCBI36
Celera1483,022,350 - 83,022,475RGD
Cytogenetic Map14q32.31UniSTS
HuRef1483,145,014 - 83,145,139UniSTS
RH98923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714102,931,500 - 102,931,652UniSTSGRCh37
Build 3614102,001,253 - 102,001,405RGDNCBI36
Celera1482,985,708 - 82,985,860RGD
Cytogenetic Map14q32.31UniSTS
HuRef1483,108,396 - 83,108,548UniSTS
GeneMap99-GB4 RH Map14277.83UniSTS
D14S56  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714102,898,524 - 102,898,688UniSTSGRCh37
Build 3614101,968,277 - 101,968,441RGDNCBI36
Celera1482,952,733 - 82,952,897RGD
Cytogenetic Map14q32.31UniSTS
HuRef1483,075,558 - 83,075,722UniSTS
D14S795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714102,853,373 - 102,853,475UniSTSGRCh37
Build 3614101,923,126 - 101,923,228RGDNCBI36
Celera1482,907,576 - 82,907,678RGD
Cytogenetic Map14q32.31UniSTS
HuRef1483,030,361 - 83,030,463UniSTS
A003P27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714102,966,231 - 102,966,459UniSTSGRCh37
Build 3614102,035,984 - 102,036,212RGDNCBI36
Celera1483,020,463 - 83,020,691RGD
Cytogenetic Map14q32.31UniSTS
HuRef1483,143,127 - 83,143,355UniSTS
GeneMap99-GB4 RH Map14279.37UniSTS
Whitehead-RH Map14356.3UniSTS
G35530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714102,922,731 - 102,922,870UniSTSGRCh37
Build 3614101,992,484 - 101,992,623RGDNCBI36
Celera1482,976,940 - 82,977,079RGD
Cytogenetic Map14q32.31UniSTS
HuRef1483,099,625 - 83,099,764UniSTS
Bdab1d07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714102,968,211 - 102,968,334UniSTSGRCh37
Build 3614102,037,964 - 102,038,087RGDNCBI36
Celera1483,022,443 - 83,022,566RGD
Cytogenetic Map14q32.31UniSTS
HuRef1483,145,107 - 83,145,230UniSTS
GeneMap99-GB4 RH Map14279.99UniSTS
NCBI RH Map141106.2UniSTS
A009Y10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714102,968,120 - 102,968,369UniSTSGRCh37
Build 3614102,037,873 - 102,038,122RGDNCBI36
Celera1483,022,352 - 83,022,601RGD
Cytogenetic Map14q32.31UniSTS
HuRef1483,145,016 - 83,145,265UniSTS
GeneMap99-GB4 RH Map14277.83UniSTS
NCBI RH Map141103.9UniSTS
G32972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714102,968,120 - 102,968,369UniSTSGRCh37
Celera1483,022,352 - 83,022,601UniSTS
Cytogenetic Map14q32.31UniSTS
HuRef1483,145,016 - 83,145,265UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1950 465 2270 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB002327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP365224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ023338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000359520   ⟹   ENSP00000352510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14102,362,941 - 102,502,477 (+)Ensembl
Ensembl Acc Id: ENST00000557786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14102,438,277 - 102,445,833 (+)Ensembl
Ensembl Acc Id: ENST00000558678   ⟹   ENSP00000453671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14102,363,079 - 102,465,671 (+)Ensembl
Ensembl Acc Id: ENST00000559124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14102,497,539 - 102,498,412 (+)Ensembl
Ensembl Acc Id: ENST00000560060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14102,434,839 - 102,443,682 (+)Ensembl
Ensembl Acc Id: ENST00000561099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14102,496,881 - 102,498,224 (+)Ensembl
Ensembl Acc Id: ENST00000561228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14102,363,061 - 102,425,272 (+)Ensembl
RefSeq Acc Id: NM_001172631   ⟹   NP_001166102
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,362,941 - 102,465,650 (+)NCBI
GRCh3714102,829,300 - 102,968,818 (+)RGD
Celera1482,883,809 - 83,023,050 (+)RGD
HuRef1483,006,301 - 83,145,714 (+)ENTREZGENE
CHM1_114102,767,110 - 102,869,830 (+)NCBI
T2T-CHM13v2.01496,598,536 - 96,701,549 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014844   ⟹   NP_055659
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,362,941 - 102,502,477 (+)NCBI
GRCh3714102,829,300 - 102,968,818 (+)RGD
Build 3614101,899,131 - 102,038,570 (+)NCBI Archive
Celera1482,883,809 - 83,023,050 (+)RGD
HuRef1483,006,301 - 83,145,714 (+)ENTREZGENE
CHM1_114102,767,110 - 102,906,640 (+)NCBI
T2T-CHM13v2.01496,598,536 - 96,738,379 (+)NCBI
Sequence:
RefSeq Acc Id: NP_055659   ⟸   NM_014844
- Peptide Label: isoform 1
- UniProtKB: H0YMM9 (UniProtKB/Swiss-Prot),   A7E2X3 (UniProtKB/Swiss-Prot),   A6NFY9 (UniProtKB/Swiss-Prot),   A5PKY3 (UniProtKB/Swiss-Prot),   Q9UEG6 (UniProtKB/Swiss-Prot),   O15040 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001166102   ⟸   NM_001172631
- Peptide Label: isoform 2
- UniProtKB: O15040 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000352510   ⟸   ENST00000359520
Ensembl Acc Id: ENSP00000453671   ⟸   ENST00000558678

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15040-F1-model_v2 AlphaFold O15040 1-1411 view protein structure

Promoters
RGD ID:6791701
Promoter ID:HG_KWN:20290
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000380088,   NM_001177611,   NM_001177612,   NM_014844,   UC001YLV.1,   UC010AWL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3614101,898,371 - 101,899,577 (+)MPROMDB
RGD ID:6810695
Promoter ID:HG_ACW:24605
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:KIAA0329.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3614101,973,906 - 101,974,406 (+)MPROMDB
RGD ID:7228673
Promoter ID:EPDNEW_H20082
Type:initiation region
Name:TECPR2_1
Description:tectonin beta-propeller repeat containing 2
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
GRCh3814102,363,061 - 102,363,121EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19957 AgrOrtholog
COSMIC TECPR2 COSMIC
Ensembl Genes ENSG00000196663 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000359520 ENTREZGENE
  ENST00000359520.12 UniProtKB/Swiss-Prot
  ENST00000558678 ENTREZGENE
  ENST00000558678.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000196663 GTEx
HGNC ID HGNC:19957 ENTREZGENE
Human Proteome Map TECPR2 Human Proteome Map
InterPro Beta-propeller_rpt_TECPR UniProtKB/Swiss-Prot
  RCC1/BLIP-II UniProtKB/Swiss-Prot
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot
  WD40_repeat UniProtKB/Swiss-Prot
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:9895 UniProtKB/Swiss-Prot
NCBI Gene 9895 ENTREZGENE
OMIM 615000 OMIM
PANTHER PTHR23287:SF16 UniProtKB/Swiss-Prot
  RUBY-EYE2-LIKE PROTEIN UniProtKB/Swiss-Prot
Pfam Hyd_WA UniProtKB/Swiss-Prot
  Tectonin UniProtKB/Swiss-Prot
PharmGKB PA164726437 PharmGKB
SMART TECPR UniProtKB/Swiss-Prot
  WD40 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot
  SSF50985 UniProtKB/Swiss-Prot
UniProt A5PKY3 ENTREZGENE
  A6NFY9 ENTREZGENE
  A7E2X3 ENTREZGENE
  H0YMM9 ENTREZGENE
  L8E8K7_HUMAN UniProtKB/TrEMBL
  O15040 ENTREZGENE
  Q9UEG6 ENTREZGENE
  TCPR2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A5PKY3 UniProtKB/Swiss-Prot
  A6NFY9 UniProtKB/Swiss-Prot
  A7E2X3 UniProtKB/Swiss-Prot
  H0YMM9 UniProtKB/Swiss-Prot
  Q9UEG6 UniProtKB/Swiss-Prot