AP5Z1 (adaptor related protein complex 5 subunit zeta 1) - Rat Genome Database

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Gene: AP5Z1 (adaptor related protein complex 5 subunit zeta 1) Homo sapiens
Analyze
Symbol: AP5Z1
Name: adaptor related protein complex 5 subunit zeta 1
RGD ID: 1626268
HGNC Page HGNC:22197
Description: Involved in double-strand break repair via homologous recombination and endosomal transport. Located in cytoplasm and nuclear speck. Implicated in hereditary spastic paraplegia and hereditary spastic paraplegia 48.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adapter-related protein complex 5 zeta subunit; adaptor related protein complex 5 zeta 1 subunit; adaptor related protein complex 5, zeta 1 subunit; adaptor-related protein complex 5 zeta subunit; adaptor-related protein complex 5, zeta 1 subunit; AP-5 complex subunit zeta-1; hypothetical protein LOC9907; KIAA0415; SPG48; zeta; zeta5
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
GRCh3874,775,623 - 4,794,397 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl74,775,615 - 4,794,397 (+)EnsemblGRCh38hg38GRCh38
GRCh3774,815,254 - 4,834,028 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3674,781,790 - 4,797,925 (+)NCBINCBI36Build 36hg18NCBI36
Celera74,774,915 - 4,791,050 (+)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef74,732,073 - 4,750,836 (+)NCBIHuRef
CHM1_174,815,007 - 4,833,771 (+)NCBICHM1_1
T2T-CHM13v2.074,892,837 - 4,911,604 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v274,861,617 - 4,880,381 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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
5. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. Slabicki M, etal., PLoS Biol. 2010 Jun 29;8(6):e1000408. doi: 10.1371/journal.pbio.1000408.
Additional References at PubMed
PMID:9455477   PMID:12107412   PMID:12477932   PMID:12690205   PMID:12853948   PMID:14702039   PMID:15489334   PMID:16189514   PMID:18029348   PMID:20301682   PMID:21903422   PMID:22022230  
PMID:25609649   PMID:28514442   PMID:29726929   PMID:32296183   PMID:32513696   PMID:32552912   PMID:32707033   PMID:33961781   PMID:35241646   PMID:37223481   PMID:37314216   PMID:37433992  


Genomics

Comparative Map Data
AP5Z1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3874,775,623 - 4,794,397 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl74,775,615 - 4,794,397 (+)EnsemblGRCh38hg38GRCh38
GRCh3774,815,254 - 4,834,028 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3674,781,790 - 4,797,925 (+)NCBINCBI36Build 36hg18NCBI36
Celera74,774,915 - 4,791,050 (+)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef74,732,073 - 4,750,836 (+)NCBIHuRef
CHM1_174,815,007 - 4,833,771 (+)NCBICHM1_1
T2T-CHM13v2.074,892,837 - 4,911,604 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v274,861,617 - 4,880,381 (+)NCBI
Ap5z1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395142,448,960 - 142,464,471 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5142,449,699 - 142,464,465 (+)EnsemblGRCm39 Ensembl
GRCm385142,463,207 - 142,478,716 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5142,463,944 - 142,478,710 (+)EnsemblGRCm38mm10GRCm38
MGSCv375142,939,885 - 142,954,669 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365142,716,405 - 142,731,189 (+)NCBIMGSCv36mm8
MGSCv365141,388,952 - 141,403,736 (+)NCBIMGSCv36mm8
Celera5139,518,977 - 139,533,398 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map581.53NCBI
Ap5z1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81217,207,315 - 17,222,975 (-)NCBIGRCr8
mRatBN7.21212,093,834 - 12,109,043 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1212,093,834 - 12,108,511 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1212,896,069 - 12,910,699 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01213,519,300 - 13,533,930 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01212,550,426 - 12,565,056 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01214,161,998 - 14,175,997 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01216,190,603 - 16,204,666 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41212,490,951 - 12,505,621 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1213,876,298 - 13,890,974 (-)NCBICelera
Cytogenetic Map12q11NCBI
Ap5z1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546010,996,796 - 11,009,525 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546010,997,554 - 11,009,435 (-)NCBIChiLan1.0ChiLan1.0
AP5Z1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v269,741,028 - 9,757,768 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1758,066,193 - 58,082,473 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v075,027,987 - 5,044,215 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.175,068,846 - 5,085,087 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl75,068,846 - 5,085,087 (+)Ensemblpanpan1.1panPan2
AP5Z1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1612,847,699 - 12,858,769 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl612,847,713 - 12,858,681 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha614,318,559 - 14,329,556 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0612,984,045 - 12,995,047 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl612,984,048 - 12,994,608 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1612,794,723 - 12,805,737 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0612,727,748 - 12,738,752 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0613,003,941 - 13,014,944 (-)NCBIUU_Cfam_GSD_1.0
Ap5z1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344141,121,273 - 141,132,243 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367651,111,882 - 1,123,316 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367651,112,333 - 1,123,244 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AP5Z1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl33,622,699 - 3,642,412 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.133,622,684 - 3,642,370 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.234,271,069 - 4,289,843 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AP5Z1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12816,852,314 - 16,868,408 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2816,851,998 - 16,868,395 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660905,051,852 - 5,068,163 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ap5z1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474028,509,230 - 28,527,519 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474028,509,979 - 28,527,813 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AP5Z1
978 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014855.3(AP5Z1):c.2221G>A (p.Glu741Lys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000543882]|Inborn genetic diseases [RCV002530071]|not provided [RCV000991541] Chr7:4791182 [GRCh38]
Chr7:4830813 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.744G>A (p.Ala248=) single nucleotide variant not specified [RCV000517348] Chr7:4784325 [GRCh38]
Chr7:4823956 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer) indel Hereditary spastic paraplegia 48 [RCV000000012] Chr7:4781213..4781216 [GRCh38]
Chr7:4820844..4820847 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.1413_1426del (p.Leu473fs) deletion Hereditary spastic paraplegia 48 [RCV000000013] Chr7:4787730..4787743 [GRCh38]
Chr7:4827361..4827374 [GRCh37]
Chr7:7p22.1		 pathogenic|likely pathogenic|uncertain significance
NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000699401]|Hereditary spastic paraplegia [RCV000515873]|not provided [RCV003148753] Chr7:4781660 [GRCh38]
Chr7:4821291 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000689577]|Hereditary spastic paraplegia [RCV000515955]|not provided [RCV003482261] Chr7:4784955 [GRCh38]
Chr7:4824586 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.900C>T (p.Tyr300=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000862692]|not provided [RCV001821450]|not specified [RCV000516816] Chr7:4785017 [GRCh38]
Chr7:4824648 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.1601C>T (p.Ala534Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001851423]|Inborn genetic diseases [RCV002525019]|not provided [RCV001770391]|not specified [RCV000517661] Chr7:4788845 [GRCh38]
Chr7:4828476 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.791-5C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001081680]|Hereditary spastic paraplegia [RCV001848886]|not provided [RCV000518236] Chr7:4784903 [GRCh38]
Chr7:4824534 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.2014G>A (p.Glu672Lys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001851284]|Hereditary spastic paraplegia [RCV000515984] Chr7:4790748 [GRCh38]
Chr7:4830379 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1527C>T (p.Phe509=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000552526]|not provided [RCV003431097] Chr7:4788226 [GRCh38]
Chr7:4827857 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000546622]|Hereditary spastic paraplegia [RCV001848975]|not provided [RCV002512115] Chr7:4789897 [GRCh38]
Chr7:4829528 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.1979G>A (p.Arg660Gln) single nucleotide variant not specified [RCV000518044] Chr7:4790713 [GRCh38]
Chr7:4830344 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.2-22.1(chr7:4469558-5111872)x3 copy number gain See cases [RCV000050969] Chr7:4469558..5111872 [GRCh38]
Chr7:4509189..5151503 [GRCh37]
Chr7:4475715..5118029 [NCBI36]
Chr7:7p22.2-22.1		 uncertain significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:4532619-5378373)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052255]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052255]|See cases [RCV000052255] Chr7:4532619..5378373 [GRCh38]
Chr7:4572250..5418004 [GRCh37]
Chr7:4538776..5384530 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000987815]|Hereditary spastic paraplegia [RCV001847667]|not provided [RCV001711379]|not specified [RCV000116372] Chr7:4785676 [GRCh38]
Chr7:4825307 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.1131C>T (p.His377=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000339089]|Hereditary spastic paraplegia [RCV001847668]|not provided [RCV001711278]|not specified [RCV000116373] Chr7:4785683 [GRCh38]
Chr7:4825314 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000234025]|Hereditary spastic paraplegia [RCV001847669]|not provided [RCV001588926]|not specified [RCV000116374] Chr7:4786314 [GRCh38]
Chr7:4825945 [GRCh37]
Chr7:7p22.1		 benign|likely benign|uncertain significance
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000475087]|Hereditary spastic paraplegia [RCV001847670]|not provided [RCV001618266]|not specified [RCV000116375] Chr7:4790832 [GRCh38]
Chr7:4830463 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000474993]|Hereditary spastic paraplegia [RCV001847671]|not provided [RCV001582582]|not specified [RCV000116376] Chr7:4791340 [GRCh38]
Chr7:4830971 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000467041]|Hereditary spastic paraplegia [RCV001847672]|not provided [RCV001554934]|not specified [RCV000116377] Chr7:4781669 [GRCh38]
Chr7:4821300 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000463367]|Hereditary spastic paraplegia [RCV001847673]|not provided [RCV001566143]|not specified [RCV000116378] Chr7:4781721 [GRCh38]
Chr7:4821352 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000385784]|Hereditary spastic paraplegia [RCV001847674]|not provided [RCV001650949]|not specified [RCV000116379] Chr7:4784340 [GRCh38]
Chr7:4823971 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.179+1G>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001331909] Chr7:4781313 [GRCh38]
Chr7:4820944 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.57G>T (p.Glu19Asp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001331911] Chr7:4781190 [GRCh38]
Chr7:4820821 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1132+14G>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162756]|not provided [RCV000513797] Chr7:4785698 [GRCh38]
Chr7:4825329 [GRCh37]
Chr7:7p22.1		 benign|likely benign
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3 copy number gain See cases [RCV000515563] Chr7:2789546..9066894 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
NM_014855.3(AP5Z1):c.*68G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000260155]|not provided [RCV001653727] Chr7:4791453 [GRCh38]
Chr7:4831084 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.*1738C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000261402] Chr7:4793123 [GRCh38]
Chr7:4832754 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1701C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000262744]|not provided [RCV004705440] Chr7:4793086 [GRCh38]
Chr7:4832717 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001087595]|not specified [RCV000192608] Chr7:4788844 [GRCh38]
Chr7:4828475 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 7p22.1(chr7:4560890-5028707)x1 copy number loss See cases [RCV000240179] Chr7:4560890..5028707 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.588C>T (p.Ser196=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000203731] Chr7:4783765 [GRCh38]
Chr7:4823396 [GRCh37]
Chr7:7p22.1		 benign|likely benign|uncertain significance
NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001344614]|Hereditary spastic paraplegia [RCV000516094]|not provided [RCV000710601] Chr7:4790787 [GRCh38]
Chr7:4830418 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1111G>A (p.Ala371Thr) single nucleotide variant Hereditary spastic paraplegia [RCV000515812] Chr7:4785663 [GRCh38]
Chr7:4825294 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1267G>A (p.Gly423Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000228923]|Hereditary spastic paraplegia [RCV001847981]|Inborn genetic diseases [RCV002518353] Chr7:4786384 [GRCh38]
Chr7:4826015 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1009C>T (p.Arg337Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000231229] Chr7:4785561 [GRCh38]
Chr7:4825192 [GRCh37]
Chr7:7p22.1		 likely pathogenic|uncertain significance
NM_014855.3(AP5Z1):c.329G>A (p.Arg110Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000229154]|Hereditary spastic paraplegia [RCV001847986] Chr7:4781717 [GRCh38]
Chr7:4821348 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2361G>A (p.Leu787=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001396130] Chr7:4791322 [GRCh38]
Chr7:4830953 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1585G>A (p.Ala529Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000232141]|Hereditary spastic paraplegia [RCV001847984]|Inborn genetic diseases [RCV003258712] Chr7:4788284 [GRCh38]
Chr7:4827915 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1284C>G (p.Leu428=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001464334] Chr7:4786401 [GRCh38]
Chr7:4826032 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2060C>G (p.Ser687Cys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000225906]|not provided [RCV002261018]|not specified [RCV000518612] Chr7:4790794 [GRCh38]
Chr7:4830425 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) single nucleotide variant AP5Z1-related disorder [RCV003929988]|Hereditary spastic paraplegia 48 [RCV001079083]|Hereditary spastic paraplegia [RCV001847987]|not provided [RCV000233083] Chr7:4783430 [GRCh38]
Chr7:4823061 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=) single nucleotide variant AP5Z1-related disorder [RCV003907888]|Hereditary spastic paraplegia 48 [RCV001088873]|Hereditary spastic paraplegia [RCV001847985]|not provided [RCV000226378] Chr7:4791361 [GRCh38]
Chr7:4830992 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.1529G>A (p.Arg510Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000234465]|Hereditary spastic paraplegia [RCV001847982]|not provided [RCV001722258]|not specified [RCV000455474] Chr7:4788228 [GRCh38]
Chr7:4827859 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.1554C>T (p.Phe518=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000228237]|Hereditary spastic paraplegia [RCV001847983]|not provided [RCV001707562]|not specified [RCV001288781] Chr7:4788253 [GRCh38]
Chr7:4827884 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.2248C>A (p.Arg750=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001497499] Chr7:4791209 [GRCh38]
Chr7:4830840 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=) single nucleotide variant AP5Z1-related disorder [RCV003967657]|Hereditary spastic paraplegia 48 [RCV000226846]|Hereditary spastic paraplegia [RCV001847988]|not provided [RCV003430791]|not specified [RCV001288787] Chr7:4784966 [GRCh38]
Chr7:4824597 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.1003C>G (p.Leu335Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000227335]|not provided [RCV000991537] Chr7:4785555 [GRCh38]
Chr7:4825186 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.355_358dup (p.Leu120fs) microsatellite Hereditary spastic paraplegia 48 [RCV001857894]|not provided [RCV000516370] Chr7:4781741..4781742 [GRCh38]
Chr7:4821372..4821373 [GRCh37]
Chr7:7p22.1		 pathogenic|likely pathogenic
NM_014855.3(AP5Z1):c.*1866C>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000283603] Chr7:4793251 [GRCh38]
Chr7:4832882 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000862691]|not provided [RCV001821449]|not specified [RCV000516731] Chr7:4781259 [GRCh38]
Chr7:4820890 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014855.3(AP5Z1):c.*921del deletion Spastic Paraplegia, Recessive [RCV000269050] Chr7:4792305 [GRCh38]
Chr7:4831936 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.702C>T (p.Asp234=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000276126] Chr7:4784283 [GRCh38]
Chr7:4823914 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*1586C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000277921] Chr7:4792971 [GRCh38]
Chr7:4832602 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*205G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000321090]|not provided [RCV001672697] Chr7:4791590 [GRCh38]
Chr7:4831221 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.*2153G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000344445] Chr7:4793538 [GRCh38]
Chr7:4833169 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1357C>G (p.Leu453Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000368765] Chr7:4787679 [GRCh38]
Chr7:4827310 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1687T>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000369010]|not provided [RCV004707181] Chr7:4793072 [GRCh38]
Chr7:4832703 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*2286G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000394114] Chr7:4793671 [GRCh38]
Chr7:4833302 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*1505C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000395017]|not provided [RCV004707180] Chr7:4792890 [GRCh38]
Chr7:4832521 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*1355G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000395021] Chr7:4792740 [GRCh38]
Chr7:4832371 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.313C>T (p.His105Tyr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000474375]|not provided [RCV000710606] Chr7:4781701 [GRCh38]
Chr7:4821332 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1065C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000375699] Chr7:4792450 [GRCh38]
Chr7:4832081 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*734G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000397965] Chr7:4792119 [GRCh38]
Chr7:4831750 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1707+11T>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000285811] Chr7:4788962 [GRCh38]
Chr7:4828593 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.1708-14C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000322422]|not provided [RCV001560927]|not specified [RCV001701871] Chr7:4789818 [GRCh38]
Chr7:4829449 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.366+5C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000862924]|not specified [RCV000517282] Chr7:4781759 [GRCh38]
Chr7:4821390 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*2599T>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000324224] Chr7:4793984 [GRCh38]
Chr7:4833615 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.*92G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000324706]|not provided [RCV003311784] Chr7:4791477 [GRCh38]
Chr7:4831108 [GRCh37]
Chr7:7p22.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=) single nucleotide variant AP5Z1-related disorder [RCV003902400]|Hereditary spastic paraplegia 48 [RCV000538368]|not specified [RCV000518556] Chr7:4789918 [GRCh38]
Chr7:4829549 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*2490G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000355625] Chr7:4793875 [GRCh38]
Chr7:4833506 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2858G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000348522] Chr7:4794243 [GRCh38]
Chr7:4833874 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001086510]|Hereditary spastic paraplegia [RCV001848705]|Inborn genetic diseases [RCV002523597]|not provided [RCV000710609] Chr7:4784998 [GRCh38]
Chr7:4824629 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*2496G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000399370] Chr7:4793881 [GRCh38]
Chr7:4833512 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1132+7C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000864134] Chr7:4785691 [GRCh38]
Chr7:4825322 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.1334C>T (p.Pro445Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000469873] Chr7:4787656 [GRCh38]
Chr7:4827287 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1441C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000302560] Chr7:4792826 [GRCh38]
Chr7:4832457 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*1701C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000317985] Chr7:4793086 [GRCh38]
Chr7:4832717 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*561C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000403229] Chr7:4791946 [GRCh38]
Chr7:4831577 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2882A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000403251]|not provided [RCV004705441] Chr7:4794267 [GRCh38]
Chr7:4833898 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1919C>T (p.Ala640Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000823783]|not provided [RCV002261081] Chr7:4790572 [GRCh38]
Chr7:4830203 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2784C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000326504] Chr7:4794169 [GRCh38]
Chr7:4833800 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*378T>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000326687]|not provided [RCV004707176] Chr7:4791763 [GRCh38]
Chr7:4831394 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*2678T>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000327255] Chr7:4794063 [GRCh38]
Chr7:4833694 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*820C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000303222] Chr7:4792205 [GRCh38]
Chr7:4831836 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*897G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000272211] Chr7:4792282 [GRCh38]
Chr7:4831913 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*537G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000351252] Chr7:4791922 [GRCh38]
Chr7:4831553 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1708-5C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000458424]|Hereditary spastic paraplegia [RCV001848708]|not provided [RCV001584085]|not specified [RCV001288783] Chr7:4789827 [GRCh38]
Chr7:4829458 [GRCh37]
Chr7:7p22.1		 benign|likely benign|uncertain significance
NM_014855.3(AP5Z1):c.417G>A (p.Ala139=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000863728] Chr7:4783366 [GRCh38]
Chr7:4822997 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.1369C>T (p.Leu457=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000470183]|not provided [RCV001675871]|not specified [RCV001288779] Chr7:4787691 [GRCh38]
Chr7:4827322 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.*276T>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000290586]|not provided [RCV001692043] Chr7:4791661 [GRCh38]
Chr7:4831292 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.*901C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000308636] Chr7:4792286 [GRCh38]
Chr7:4831917 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*2243C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000352359] Chr7:4793628 [GRCh38]
Chr7:4833259 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met) single nucleotide variant AP5Z1-related disorder [RCV003970056]|Hereditary spastic paraplegia 48 [RCV000352753]|Hereditary spastic paraplegia [RCV001848709]|not provided [RCV003480620] Chr7:4790589 [GRCh38]
Chr7:4830220 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*765C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000400897] Chr7:4792150 [GRCh38]
Chr7:4831781 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.-3G>A single nucleotide variant AP5Z1-related disorder [RCV003922600]|Hereditary spastic paraplegia 48 [RCV000291097]|Hereditary spastic paraplegia [RCV001848702]|not provided [RCV001591026] Chr7:4775713 [GRCh38]
Chr7:4815344 [GRCh37]
Chr7:7p22.1		 benign|likely benign|uncertain significance
NM_014855.3(AP5Z1):c.*1039G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000274810] Chr7:4792424 [GRCh38]
Chr7:4832055 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*2109G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000291731] Chr7:4793494 [GRCh38]
Chr7:4833125 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*45A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000354230]|not provided [RCV001618656] Chr7:4791430 [GRCh38]
Chr7:4831061 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.*1760G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000380441] Chr7:4793145 [GRCh38]
Chr7:4832776 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001086379]|Hereditary spastic paraplegia [RCV001848707]|not provided [RCV000710597] Chr7:4788256 [GRCh38]
Chr7:4827887 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000648383]|Hereditary spastic paraplegia [RCV001848703]|not provided [RCV001584084]|not specified [RCV000517862] Chr7:4783328 [GRCh38]
Chr7:4822959 [GRCh37]
Chr7:7p22.1		 benign|likely benign|uncertain significance
NM_014855.3(AP5Z1):c.*761G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000342964]|not provided [RCV004707177] Chr7:4792146 [GRCh38]
Chr7:4831777 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*910G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000363366]|not provided [RCV004696027] Chr7:4792295 [GRCh38]
Chr7:4831926 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1724T>G (p.Leu575Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000808183]|Inborn genetic diseases [RCV002524533] Chr7:4789848 [GRCh38]
Chr7:4829479 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1473C>G (p.Ser491=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000355941] Chr7:4788172 [GRCh38]
Chr7:4827803 [GRCh37]
Chr7:7p22.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*432C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000381291] Chr7:4791817 [GRCh38]
Chr7:4831448 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1953C>T (p.Gly651=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000312134]|Hereditary spastic paraplegia [RCV001848710] Chr7:4790687 [GRCh38]
Chr7:4830318 [GRCh37]
Chr7:7p22.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*922C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000333456] Chr7:4792307 [GRCh38]
Chr7:4831938 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*2623A>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000358065] Chr7:4794008 [GRCh38]
Chr7:4833639 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.-68G>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000383121] Chr7:4775648 [GRCh38]
Chr7:4815279 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2093A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000383782]|not provided [RCV004707182] Chr7:4793478 [GRCh38]
Chr7:4833109 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*1555C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000308322] Chr7:4792940 [GRCh38]
Chr7:4832571 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.584A>G (p.His195Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001087428]|not provided [RCV000710608] Chr7:4783761 [GRCh38]
Chr7:4823392 [GRCh37]
Chr7:7p22.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*2338G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000312835] Chr7:4793723 [GRCh38]
Chr7:4833354 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2719C>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000384182] Chr7:4794104 [GRCh38]
Chr7:4833735 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*250T>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000384853]|not provided [RCV001662339] Chr7:4791635 [GRCh38]
Chr7:4831266 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.949G>T (p.Asp317Tyr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000278489] Chr7:4785432 [GRCh38]
Chr7:4825063 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2198G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000295094] Chr7:4793583 [GRCh38]
Chr7:4833214 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.*532G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000296324]|not provided [RCV002512089] Chr7:4791917 [GRCh38]
Chr7:4831548 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.*1670G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000314380]|not provided [RCV003311785] Chr7:4793055 [GRCh38]
Chr7:4832686 [GRCh37]
Chr7:7p22.1		 benign|uncertain significance
NM_014855.3(AP5Z1):c.*1182C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000336233] Chr7:4792567 [GRCh38]
Chr7:4832198 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*690A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000336955] Chr7:4792075 [GRCh38]
Chr7:4831706 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.512-7A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000460226]|not provided [RCV001672696] Chr7:4783682 [GRCh38]
Chr7:4823313 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.*2500C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000297137] Chr7:4793885 [GRCh38]
Chr7:4833516 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000314723]|Hereditary spastic paraplegia [RCV001848706] Chr7:4787663 [GRCh38]
Chr7:4827294 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr) single nucleotide variant AP5Z1-related disorder [RCV003932487]|Hereditary spastic paraplegia 48 [RCV000339045]|not provided [RCV000710605] Chr7:4781647 [GRCh38]
Chr7:4821278 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*953T>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000387957]|not provided [RCV004707178] Chr7:4792338 [GRCh38]
Chr7:4831969 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*2838A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000388014] Chr7:4794223 [GRCh38]
Chr7:4833854 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2849G>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000296057] Chr7:4794234 [GRCh38]
Chr7:4833865 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.1806-12C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000393211]|not provided [RCV001534431] Chr7:4790447 [GRCh38]
Chr7:4830078 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.511+5G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000469006] Chr7:4783465 [GRCh38]
Chr7:4823096 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1562C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000363185] Chr7:4792947 [GRCh38]
Chr7:4832578 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=) single nucleotide variant AP5Z1-related disorder [RCV003922601]|Hereditary spastic paraplegia 48 [RCV000863004]|not provided [RCV001569108] Chr7:4787637 [GRCh38]
Chr7:4827268 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.592G>A (p.Gly198Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000389446] Chr7:4783769 [GRCh38]
Chr7:4823400 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*754G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000297386] Chr7:4792139 [GRCh38]
Chr7:4831770 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1039G>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000330410]|not provided [RCV004707179] Chr7:4792424 [GRCh38]
Chr7:4832055 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.*2642T>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000265681]|not provided [RCV004696028] Chr7:4794027 [GRCh38]
Chr7:4833658 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000576257]|Hereditary spastic paraplegia [RCV001848704]|not provided [RCV001723961]|not specified [RCV001662337] Chr7:4784361 [GRCh38]
Chr7:4823992 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*665T>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000281959]|not provided [RCV004705439] Chr7:4792050 [GRCh38]
Chr7:4831681 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*1736C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000372644] Chr7:4793121 [GRCh38]
Chr7:4832752 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*189G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000265944] Chr7:4791574 [GRCh38]
Chr7:4831205 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2940C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000282390] Chr7:4794325 [GRCh38]
Chr7:4833956 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1377C>T (p.Asp459=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000319798]|not provided [RCV001653726] Chr7:4787699 [GRCh38]
Chr7:4827330 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.970-13C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000342912]|not provided [RCV001643091] Chr7:4785509 [GRCh38]
Chr7:4825140 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000462575]|Hereditary spastic paraplegia [RCV001848711]|Inborn genetic diseases [RCV002523598]|not provided [RCV000766950]|not specified [RCV000433241] Chr7:4790698 [GRCh38]
Chr7:4830329 [GRCh37]
Chr7:7p22.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.1939-9C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000465220]|not provided [RCV001662338]|not specified [RCV001288784] Chr7:4790664 [GRCh38]
Chr7:4830295 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.585C>G (p.His195Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000270410] Chr7:4783762 [GRCh38]
Chr7:4823393 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1136del deletion Spastic Paraplegia, Recessive [RCV000281239] Chr7:4792519 [GRCh38]
Chr7:4832150 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2574C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000266772] Chr7:4793959 [GRCh38]
Chr7:4833590 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1073_1099del (p.Arg358_Val366del) deletion Hereditary spastic paraplegia 48 [RCV002525018]|Hereditary spastic paraplegia [RCV001848885]|not specified [RCV000518811] Chr7:4785617..4785643 [GRCh38]
Chr7:4825248..4825274 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.394G>A (p.Val132Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000399358] Chr7:4783343 [GRCh38]
Chr7:4822974 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.724G>C (p.Ala242Pro) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000331238] Chr7:4784305 [GRCh38]
Chr7:4823936 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2278_2280dup (p.Met760dup) duplication not specified [RCV000516872] Chr7:4791237..4791238 [GRCh38]
Chr7:4830868..4830869 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1480T>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000348052] Chr7:4792865 [GRCh38]
Chr7:4832496 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*3005del deletion Spastic Paraplegia, Recessive [RCV000335025] Chr7:4794390 [GRCh38]
Chr7:4834021 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.790+15G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000337146] Chr7:4784386 [GRCh38]
Chr7:4824017 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2047C>A (p.Gln683Lys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000389964] Chr7:4790781 [GRCh38]
Chr7:4830412 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1203G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000372033] Chr7:4792588 [GRCh38]
Chr7:4832219 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1204C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000286904] Chr7:4792589 [GRCh38]
Chr7:4832220 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1750G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV000323555] Chr7:4793135 [GRCh38]
Chr7:4832766 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2503G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000354379] Chr7:4793888 [GRCh38]
Chr7:4833519 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2767CT[1] microsatellite Spastic Paraplegia, Recessive [RCV000287906] Chr7:4794152..4794153 [GRCh38]
Chr7:4833783..4833784 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1881A>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000341005] Chr7:4793266 [GRCh38]
Chr7:4832897 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2185C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000394127] Chr7:4793570 [GRCh38]
Chr7:4833201 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1266C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000341938] Chr7:4792651 [GRCh38]
Chr7:4832282 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*896C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000357553] Chr7:4792281 [GRCh38]
Chr7:4831912 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1119C>T (p.Phe373=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000396245] Chr7:4785671 [GRCh38]
Chr7:4825302 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*152G>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000360679] Chr7:4791537 [GRCh38]
Chr7:4831168 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000416330]|Hereditary spastic paraplegia [RCV001848739]|not provided [RCV003422385] Chr7:4787644 [GRCh38]
Chr7:4827275 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.1732C>T (p.Gln578Ter) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000416332] Chr7:4789856 [GRCh38]
Chr7:4829487 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000416347] Chr7:4783361 [GRCh38]
Chr7:4822992 [GRCh37]
Chr7:7p22.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.616C>T (p.Arg206Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000416373] Chr7:4783793 [GRCh38]
Chr7:4823424 [GRCh37]
Chr7:7p22.1		 pathogenic|uncertain significance
NM_014855.3(AP5Z1):c.1536G>A (p.Pro512=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000576156] Chr7:4788235 [GRCh38]
Chr7:4827866 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 copy number gain See cases [RCV000449281] Chr7:43360..5443709 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:4743281-5163491)x1 copy number loss See cases [RCV000448545] Chr7:4743281..5163491 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.1(chr7:4756391-5934779)x3 copy number gain See cases [RCV000448466] Chr7:4756391..5934779 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1863G>A (p.Glu621=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162875] Chr7:4790516 [GRCh38]
Chr7:4830147 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.1595+4C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000459690]|not provided [RCV001555482] Chr7:4788298 [GRCh38]
Chr7:4827929 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1463C>T (p.Pro488Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000467244] Chr7:4788162 [GRCh38]
Chr7:4827793 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1062C>T (p.His354=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000471286]|Hereditary spastic paraplegia [RCV001848843]|not provided [RCV001532098] Chr7:4785614 [GRCh38]
Chr7:4825245 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.868C>T (p.Arg290Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000464140] Chr7:4784985 [GRCh38]
Chr7:4824616 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1806-4G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002526504] Chr7:4790455 [GRCh38]
Chr7:4830086 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2287G>A (p.Val763Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000468090]|not provided [RCV003480647]|not specified [RCV003114592] Chr7:4791248 [GRCh38]
Chr7:4830879 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000476354]|Hereditary spastic paraplegia [RCV001848820]|not provided [RCV001508573]|not specified [RCV004525935] Chr7:4788272 [GRCh38]
Chr7:4827903 [GRCh37]
Chr7:7p22.1		 conflicting interpretations of pathogenicity|uncertain significance
NC_000007.14:g.(?_4788154)_(4794395_?)del deletion Hereditary spastic paraplegia 48 [RCV000476440] Chr7:4788154..4794395 [GRCh38]
Chr7:4827785..4834026 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2387G>A (p.Arg796Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000457726]|Hereditary spastic paraplegia [RCV001848821]|Inborn genetic diseases [RCV002525623]|not provided [RCV001508576]|not specified [RCV000518104] Chr7:4791348 [GRCh38]
Chr7:4830979 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.127G>A (p.Asp43Asn) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000461659]|not provided [RCV004691780] Chr7:4781260 [GRCh38]
Chr7:4820891 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001085751]|Hereditary spastic paraplegia [RCV001848842]|not provided [RCV000710598] Chr7:4788262 [GRCh38]
Chr7:4827893 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001079195]|Hereditary spastic paraplegia [RCV001848845]|not provided [RCV000710602] Chr7:4791191 [GRCh38]
Chr7:4830822 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.1528C>T (p.Arg510Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000477026]|Hereditary spastic paraplegia [RCV001848819]|not provided [RCV000991538] Chr7:4788227 [GRCh38]
Chr7:4827858 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2209_2220del (p.Ser737_Ser740del) deletion Hereditary spastic paraplegia 48 [RCV000466345]|Hereditary spastic paraplegia [RCV001848844]|not provided [RCV001683523] Chr7:4791166..4791177 [GRCh38]
Chr7:4830797..4830808 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_014855.3(AP5Z1):c.2391G>T (p.Leu797=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002530072] Chr7:4791352 [GRCh38]
Chr7:4830983 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.2-22.1(chr7:4412278-4933853)x3 copy number gain See cases [RCV000510795] Chr7:4412278..4933853 [GRCh37]
Chr7:7p22.2-22.1		 uncertain significance
NM_014855.3(AP5Z1):c.935C>T (p.Ala312Val) single nucleotide variant Inborn genetic diseases [RCV003272195] Chr7:4785418 [GRCh38]
Chr7:4825049 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1728C>A (p.Ile576=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002526765] Chr7:4789852 [GRCh38]
Chr7:4829483 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2131C>G (p.Arg711Gly) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000534066]|Hereditary spastic paraplegia [RCV001848976]|not provided [RCV001288785] Chr7:4790865 [GRCh38]
Chr7:4830496 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.740G>A (p.Arg247Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000576207]|Inborn genetic diseases [RCV002530361] Chr7:4784321 [GRCh38]
Chr7:4823952 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.764C>T (p.Pro255Leu) single nucleotide variant Inborn genetic diseases [RCV003240918] Chr7:4784345 [GRCh38]
Chr7:4823976 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1450C>T (p.Leu484Phe) single nucleotide variant Inborn genetic diseases [RCV003300261] Chr7:4787772 [GRCh38]
Chr7:4827403 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_014855.3(AP5Z1):c.2038G>A (p.Glu680Lys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000648375] Chr7:4790772 [GRCh38]
Chr7:4830403 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.361G>A (p.Ala121Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000648376] Chr7:4781749 [GRCh38]
Chr7:4821380 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.691C>T (p.Arg231Cys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000648377]|not provided [RCV001775939] Chr7:4784272 [GRCh38]
Chr7:4823903 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.671C>T (p.Thr224Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000648378]|High myopia [RCV000785695]|Inborn genetic diseases [RCV004025749]|not provided [RCV001771888] Chr7:4784252 [GRCh38]
Chr7:4823883 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1766C>T (p.Ser589Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000648379]|Hereditary spastic paraplegia [RCV001849027]|Inborn genetic diseases [RCV002533347] Chr7:4789890 [GRCh38]
Chr7:4829521 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2189C>T (p.Ala730Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000648380] Chr7:4791150 [GRCh38]
Chr7:4830781 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.766G>A (p.Glu256Lys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000648374] Chr7:4784347 [GRCh38]
Chr7:4823978 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.984C>T (p.Ala328=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000648381]|not provided [RCV004707397] Chr7:4785536 [GRCh38]
Chr7:4825167 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=) single nucleotide variant AP5Z1-related disorder [RCV003928103]|Hereditary spastic paraplegia 48 [RCV001086303]|Hereditary spastic paraplegia [RCV001849028]|not provided [RCV000648382]|not specified [RCV001283507] Chr7:4785551 [GRCh38]
Chr7:4825182 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014855.3(AP5Z1):c.1428G>A (p.Leu476=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000648384] Chr7:4787750 [GRCh38]
Chr7:4827381 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.258C>T (p.Cys86=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001437998]|not provided [RCV003884693] Chr7:4781646 [GRCh38]
Chr7:4821277 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.988C>T (p.Leu330=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000648386] Chr7:4785540 [GRCh38]
Chr7:4825171 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.490A>G (p.Ser164Gly) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000648387] Chr7:4783439 [GRCh38]
Chr7:4823070 [GRCh37]
Chr7:7p22.1		 benign|likely benign
GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1 copy number loss See cases [RCV000512351] Chr7:1201674..5175651 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
NM_014855.3(AP5Z1):c.2081C>T (p.Pro694Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000700913] Chr7:4790815 [GRCh38]
Chr7:4830446 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1988C>G (p.Thr663Ser) single nucleotide variant not provided [RCV000658097] Chr7:4790722 [GRCh38]
Chr7:4830353 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.868del (p.Arg290fs) deletion Hereditary spastic paraplegia 48 [RCV000686651]|Hereditary spastic paraplegia [RCV001849048] Chr7:4784982 [GRCh38]
Chr7:4824613 [GRCh37]
Chr7:7p22.1		 pathogenic|likely pathogenic
GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3 copy number gain See cases [RCV000663395] Chr7:4644965..5436368 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.55G>A (p.Glu19Lys) single nucleotide variant not provided [RCV000658103] Chr7:4781188 [GRCh38]
Chr7:4820819 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1343_1346dup (p.Glu449fs) duplication Hereditary spastic paraplegia 48 [RCV000721923] Chr7:4787664..4787665 [GRCh38]
Chr7:4827295..4827296 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.2197C>G (p.Pro733Ala) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000698944] Chr7:4791158 [GRCh38]
Chr7:4830789 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3 copy number gain not provided [RCV000682900] Chr7:4388620..7302293 [GRCh37]
Chr7:7p22.2-21.3		 pathogenic
NM_014855.3(AP5Z1):c.1771T>C (p.Tyr591His) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000687766] Chr7:4789895 [GRCh38]
Chr7:4829526 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.628C>A (p.Pro210Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000687821] Chr7:4784209 [GRCh38]
Chr7:4823840 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1685C>T (p.Ala562Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000688051] Chr7:4788929 [GRCh38]
Chr7:4828560 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1803C>G (p.His601Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000699942] Chr7:4789927 [GRCh38]
Chr7:4829558 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.706C>T (p.Gln236Ter) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000701450] Chr7:4784287 [GRCh38]
Chr7:4823918 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.210_231del (p.Gln70fs) deletion Hereditary spastic paraplegia 48 [RCV000687280] Chr7:4781593..4781614 [GRCh38]
Chr7:4821224..4821245 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.779C>T (p.Thr260Ile) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000703067]|Inborn genetic diseases [RCV004649286] Chr7:4784360 [GRCh38]
Chr7:4823991 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1978C>T (p.Arg660Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000706383]|Inborn genetic diseases [RCV003243271] Chr7:4790712 [GRCh38]
Chr7:4830343 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.874C>T (p.Arg292Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000704326]|Hereditary spastic paraplegia [RCV001849068]|Inborn genetic diseases [RCV004026658]|not provided [RCV001508570] Chr7:4784991 [GRCh38]
Chr7:4824622 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.41+812_970del deletion Hereditary spastic paraplegia 48 [RCV000703139] Chr7:4776568..4785522 [GRCh38]
Chr7:4816199..4825153 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.2345A>G (p.Asp782Gly) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000704609]|not provided [RCV000710604] Chr7:4791306 [GRCh38]
Chr7:4830937 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.-1G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV001164610]|Hereditary spastic paraplegia [RCV001849070]|not provided [RCV000710600] Chr7:4775715 [GRCh38]
Chr7:4815346 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2328C>A (p.Ser776Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001085307]|not provided [RCV000710603] Chr7:4791289 [GRCh38]
Chr7:4830920 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.369T>C (p.Gly123=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001085308]|not provided [RCV000710607] Chr7:4783318 [GRCh38]
Chr7:4822949 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.2102T>C (p.Leu701Pro) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000778831] Chr7:4790836 [GRCh38]
Chr7:4830467 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1015dup (p.Asp339fs) duplication Hereditary spastic paraplegia 48 [RCV000778923]|not provided [RCV002473130] Chr7:4785565..4785566 [GRCh38]
Chr7:4825196..4825197 [GRCh37]
Chr7:7p22.1		 likely pathogenic|uncertain significance
NM_014855.3(AP5Z1):c.1805+212C>T single nucleotide variant not provided [RCV001566640] Chr7:4790141 [GRCh38]
Chr7:4829772 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1455-148G>A single nucleotide variant not provided [RCV001574635] Chr7:4788006 [GRCh38]
Chr7:4827637 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:4798726-4830979)x3 copy number gain not provided [RCV000746380] Chr7:4798726..4830979 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4798726-4854998)x3 copy number gain not provided [RCV000746381] Chr7:4798726..4854998 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4799694-4845701)x3 copy number gain not provided [RCV000746382] Chr7:4799694..4845701 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4821300-4839265)x3 copy number gain not provided [RCV000746383] Chr7:4821300..4839265 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4821300-4839882)x3 copy number gain not provided [RCV000746384] Chr7:4821300..4839882 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4821300-4854998)x1 copy number loss not provided [RCV000746385] Chr7:4821300..4854998 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4821300-4855994)x3 copy number gain not provided [RCV000746386] Chr7:4821300..4855994 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4821332-4876055)x3 copy number gain not provided [RCV000746387] Chr7:4821332..4876055 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4823392-4845701)x1 copy number loss not provided [RCV000746388] Chr7:4823392..4845701 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4823971-4842603)x0 copy number loss not provided [RCV000746389] Chr7:4823971..4842603 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4823971-4845248)x1 copy number loss not provided [RCV000746390] Chr7:4823971..4845248 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4824622-4841553)x1 copy number loss not provided [RCV000746391] Chr7:4824622..4841553 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4824622-4876055)x3 copy number gain not provided [RCV000746392] Chr7:4824622..4876055 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4830379-4854998)x4 copy number gain not provided [RCV000746393] Chr7:4830379..4854998 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_014855.3(AP5Z1):c.774G>A (p.Pro258=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000861572] Chr7:4784355 [GRCh38]
Chr7:4823986 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1805+69_1805+80del deletion not provided [RCV001648534] Chr7:4789991..4790002 [GRCh38]
Chr7:4829622..4829633 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.42-146C>T single nucleotide variant not provided [RCV001534649] Chr7:4781029 [GRCh38]
Chr7:4820660 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.621+168G>A single nucleotide variant not provided [RCV001668920] Chr7:4783966 [GRCh38]
Chr7:4823597 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1716C>T (p.Asp572=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001400672] Chr7:4789840 [GRCh38]
Chr7:4829471 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1536G>T (p.Pro512=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598009] Chr7:4788235 [GRCh38]
Chr7:4827866 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1708-291C>T single nucleotide variant not provided [RCV001567408] Chr7:4789541 [GRCh38]
Chr7:4829172 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.970-12C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV002072180]|not provided [RCV001567464] Chr7:4785510 [GRCh38]
Chr7:4825141 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1707+238A>G single nucleotide variant not provided [RCV001586416] Chr7:4789189 [GRCh38]
Chr7:4828820 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1707+210G>A single nucleotide variant not provided [RCV001669136] Chr7:4789161 [GRCh38]
Chr7:4828792 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1707+314C>T single nucleotide variant not provided [RCV001569201] Chr7:4789265 [GRCh38]
Chr7:4828896 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1707+232C>T single nucleotide variant not provided [RCV001576790] Chr7:4789183 [GRCh38]
Chr7:4828814 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.791-124C>T single nucleotide variant not provided [RCV001581367] Chr7:4784784 [GRCh38]
Chr7:4824415 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1805+175_1805+178del microsatellite not provided [RCV001691875] Chr7:4790101..4790104 [GRCh38]
Chr7:4829732..4829735 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.*1930T>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165405] Chr7:4793315 [GRCh38]
Chr7:4832946 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1806-167G>A single nucleotide variant not provided [RCV001547030] Chr7:4790292 [GRCh38]
Chr7:4829923 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.22A>C (p.Ser8Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001045206] Chr7:4775737 [GRCh38]
Chr7:4815368 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2154-52C>T single nucleotide variant not provided [RCV001568561] Chr7:4791063 [GRCh38]
Chr7:4830694 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1806-121C>T single nucleotide variant not provided [RCV001644516] Chr7:4790338 [GRCh38]
Chr7:4829969 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.179+113T>G single nucleotide variant not provided [RCV001550018] Chr7:4781425 [GRCh38]
Chr7:4821056 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.636C>T (p.Thr212=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002538965]|Hereditary spastic paraplegia [RCV001847064]|not provided [RCV003432809] Chr7:4784217 [GRCh38]
Chr7:4823848 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.2118G>A (p.Thr706=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000869267] Chr7:4790852 [GRCh38]
Chr7:4830483 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.931+10C>A single nucleotide variant AP5Z1-related disorder [RCV003908254]|Hereditary spastic paraplegia 48 [RCV000869190] Chr7:4785058 [GRCh38]
Chr7:4824689 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.324C>T (p.Asn108=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000866558] Chr7:4781712 [GRCh38]
Chr7:4821343 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1074C>T (p.Arg358=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000866572] Chr7:4785626 [GRCh38]
Chr7:4825257 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1965G>A (p.Ser655=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001164944] Chr7:4790699 [GRCh38]
Chr7:4830330 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.550C>T (p.Leu184=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000863353] Chr7:4783727 [GRCh38]
Chr7:4823358 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.672G>A (p.Thr224=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001434486] Chr7:4784253 [GRCh38]
Chr7:4823884 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1617G>C (p.Leu539=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161319] Chr7:4788861 [GRCh38]
Chr7:4828492 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.2013C>T (p.Phe671=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002536771] Chr7:4790747 [GRCh38]
Chr7:4830378 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.348C>T (p.Ala116=) single nucleotide variant not provided [RCV000867470] Chr7:4781736 [GRCh38]
Chr7:4821367 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.219C>T (p.Leu73=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000877730] Chr7:4781607 [GRCh38]
Chr7:4821238 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2154-4C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000924205] Chr7:4791111 [GRCh38]
Chr7:4830742 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.894C>T (p.Phe298=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001440722]|Hereditary spastic paraplegia [RCV001847063]|not provided [RCV003424394]|not specified [RCV001664500] Chr7:4785011 [GRCh38]
Chr7:4824642 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1485C>G (p.Leu495=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002538979] Chr7:4788184 [GRCh38]
Chr7:4827815 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.528C>T (p.Leu176=) single nucleotide variant not provided [RCV000925495] Chr7:4783705 [GRCh38]
Chr7:4823336 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1920G>A (p.Ala640=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000864616] Chr7:4790573 [GRCh38]
Chr7:4830204 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1175T>C (p.Leu392Pro) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001062120]|Inborn genetic diseases [RCV002553916] Chr7:4786292 [GRCh38]
Chr7:4825923 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1645G>A (p.Val549Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001062350] Chr7:4788889 [GRCh38]
Chr7:4828520 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2414T>C (p.Met805Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001071157] Chr7:4791375 [GRCh38]
Chr7:4831006 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1082C>T (p.Pro361Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001043266] Chr7:4785634 [GRCh38]
Chr7:4825265 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.560C>T (p.Ala187Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001069856] Chr7:4783737 [GRCh38]
Chr7:4823368 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.623C>T (p.Pro208Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001071734]|Inborn genetic diseases [RCV004031156] Chr7:4784204 [GRCh38]
Chr7:4823835 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_014855.3(AP5Z1):c.302T>C (p.Leu101Pro) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001052074] Chr7:4781690 [GRCh38]
Chr7:4821321 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2086dup (p.Gln696fs) duplication Hereditary spastic paraplegia 48 [RCV001052077] Chr7:4790813..4790814 [GRCh38]
Chr7:4830444..4830445 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.985G>A (p.Val329Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001048987]|Inborn genetic diseases [RCV003160382] Chr7:4785537 [GRCh38]
Chr7:4825168 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1072C>T (p.Arg358Cys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000791496]|Inborn genetic diseases [RCV003338793]|not provided [RCV002261204] Chr7:4785624 [GRCh38]
Chr7:4825255 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000808499]|Hereditary spastic paraplegia [RCV001849111]|not provided [RCV001664426] Chr7:4785684 [GRCh38]
Chr7:4825315 [GRCh37]
Chr7:7p22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.1010G>A (p.Arg337Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000792903]|not provided [RCV001508571] Chr7:4785562 [GRCh38]
Chr7:4825193 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1197_1198delinsAG (p.Gln400Glu) indel Hereditary spastic paraplegia 48 [RCV000793177] Chr7:4786314..4786315 [GRCh38]
Chr7:4825945..4825946 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2185del (p.Leu729fs) deletion Hereditary spastic paraplegia 48 [RCV000806305] Chr7:4791144 [GRCh38]
Chr7:4830775 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.210G>A (p.Gln70=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001434433] Chr7:4781598 [GRCh38]
Chr7:4821229 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000861350]|Hereditary spastic paraplegia [RCV001849141]|not provided [RCV001548045]|not specified [RCV001664488] Chr7:4783735 [GRCh38]
Chr7:4823366 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014855.3(AP5Z1):c.1767G>A (p.Ser589=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001454102] Chr7:4789891 [GRCh38]
Chr7:4829522 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.791-10C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002537531] Chr7:4784898 [GRCh38]
Chr7:4824529 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1434G>A (p.Ala478=) single nucleotide variant AP5Z1-related disorder [RCV003938273]|Hereditary spastic paraplegia 48 [RCV000866172] Chr7:4787756 [GRCh38]
Chr7:4827387 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.561C>T (p.Ala187=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002538897] Chr7:4783738 [GRCh38]
Chr7:4823369 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2019C>G (p.Ala673=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002538980] Chr7:4790753 [GRCh38]
Chr7:4830384 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala) single nucleotide variant AP5Z1-related disorder [RCV003928350]|Hereditary spastic paraplegia 48 [RCV000863005]|not provided [RCV001585809] Chr7:4791266 [GRCh38]
Chr7:4830897 [GRCh37]
Chr7:7p22.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014855.3(AP5Z1):c.768G>A (p.Glu256=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000861571] Chr7:4784349 [GRCh38]
Chr7:4823980 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1584C>T (p.Gly528=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001159919] Chr7:4788283 [GRCh38]
Chr7:4827914 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.1419G>A (p.Leu473=) single nucleotide variant not provided [RCV000964790] Chr7:4787741 [GRCh38]
Chr7:4827372 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.622-7C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000896183] Chr7:4784196 [GRCh38]
Chr7:4823827 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1680G>A (p.Leu560=) single nucleotide variant not provided [RCV000865297] Chr7:4788924 [GRCh38]
Chr7:4828555 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1312-10G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000862302] Chr7:4787624 [GRCh38]
Chr7:4827255 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2153+8G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000865224] Chr7:4790895 [GRCh38]
Chr7:4830526 [GRCh37]
Chr7:7p22.1		 benign|conflicting interpretations of pathogenicity
NM_014855.3(AP5Z1):c.819T>G (p.Thr273=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000893919] Chr7:4784936 [GRCh38]
Chr7:4824567 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.970-5C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161202]|Hereditary spastic paraplegia [RCV001849135]|Inborn genetic diseases [RCV002536226] Chr7:4785517 [GRCh38]
Chr7:4825148 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.1464G>A (p.Pro488=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001164827] Chr7:4788163 [GRCh38]
Chr7:4827794 [GRCh37]
Chr7:7p22.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.994C>T (p.Leu332=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002539197]|not provided [RCV004707454] Chr7:4785546 [GRCh38]
Chr7:4825177 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity
NM_014855.3(AP5Z1):c.891C>T (p.Ala297=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001444748]|Hereditary spastic paraplegia [RCV001849139]|not specified [RCV001664487] Chr7:4785008 [GRCh38]
Chr7:4824639 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.773C>T (p.Pro258Leu) single nucleotide variant Inborn genetic diseases [RCV003251152]|not provided [RCV003313326] Chr7:4784354 [GRCh38]
Chr7:4823985 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.841T>A (p.Ser281Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000800952]|Inborn genetic diseases [RCV002534664] Chr7:4784958 [GRCh38]
Chr7:4824589 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1312-9T>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV000814215] Chr7:4787625 [GRCh38]
Chr7:4827256 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2105_2116dup (p.Met702_Leu705dup) duplication Hereditary spastic paraplegia 48 [RCV000794268]|Hereditary spastic paraplegia [RCV001849098] Chr7:4790833..4790834 [GRCh38]
Chr7:4830464..4830465 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1775C>T (p.Pro592Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000821366] Chr7:4789899 [GRCh38]
Chr7:4829530 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2117C>G (p.Thr706Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000819727] Chr7:4790851 [GRCh38]
Chr7:4830482 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1850C>G (p.Ser617Cys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000823987] Chr7:4790503 [GRCh38]
Chr7:4830134 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1288T>G (p.Leu430Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000824465]|not provided [RCV003480877] Chr7:4786405 [GRCh38]
Chr7:4826036 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.970-4G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001431785]|Inborn genetic diseases [RCV002539949]|not provided [RCV003432820] Chr7:4785518 [GRCh38]
Chr7:4825149 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.696C>A (p.Phe232Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000818521] Chr7:4784277 [GRCh38]
Chr7:4823908 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.838A>G (p.Thr280Ala) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000808473]|Inborn genetic diseases [RCV002537288] Chr7:4784955 [GRCh38]
Chr7:4824586 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.2354C>G (p.Thr785Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000791774] Chr7:4791315 [GRCh38]
Chr7:4830946 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.931+1G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000800447] Chr7:4785049 [GRCh38]
Chr7:4824680 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.54C>T (p.Asp18=) single nucleotide variant not provided [RCV000991542] Chr7:4781187 [GRCh38]
Chr7:4820818 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.970-2_983del deletion Hereditary spastic paraplegia 48 [RCV000805942] Chr7:4785518..4785533 [GRCh38]
Chr7:4825149..4825164 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.1521G>C (p.Glu507Asp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000792503] Chr7:4788220 [GRCh38]
Chr7:4827851 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.352G>A (p.Val118Ile) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000799189] Chr7:4781740 [GRCh38]
Chr7:4821371 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.972C>G (p.Cys324Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000804091] Chr7:4785524 [GRCh38]
Chr7:4825155 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1454+5G>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000797539] Chr7:4787781 [GRCh38]
Chr7:4827412 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1431G>A (p.Thr477=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000804828] Chr7:4787753 [GRCh38]
Chr7:4827384 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.2155G>A (p.Ala719Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000795216] Chr7:4791116 [GRCh38]
Chr7:4830747 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2045C>T (p.Thr682Ile) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000795057]|not provided [RCV001508575] Chr7:4790779 [GRCh38]
Chr7:4830410 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*149C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165056] Chr7:4791534 [GRCh38]
Chr7:4831165 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2180G>A (p.Arg727Lys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002550727]|not provided [RCV000998759] Chr7:4791141 [GRCh38]
Chr7:4830772 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2356_2361dup (p.Ala786_Leu787dup) duplication not provided [RCV000998760] Chr7:4791315..4791316 [GRCh38]
Chr7:4830946..4830947 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2004C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165406]|Hereditary spastic paraplegia [RCV001847181] Chr7:4793389 [GRCh38]
Chr7:4833020 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.*683G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165174] Chr7:4792068 [GRCh38]
Chr7:4831699 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1155G>A (p.Ser385=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000863089]|Hereditary spastic paraplegia [RCV001849166]|not provided [RCV003432798] Chr7:4786272 [GRCh38]
Chr7:4825903 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.701A>T (p.Asp234Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000815258] Chr7:4784282 [GRCh38]
Chr7:4823913 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1133-239C>T single nucleotide variant not provided [RCV001581818] Chr7:4786011 [GRCh38]
Chr7:4825642 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.596TCT[1] (p.Phe200del) microsatellite Hereditary spastic paraplegia 48 [RCV000862547] Chr7:4783771..4783773 [GRCh38]
Chr7:4823402..4823404 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1910G>A (p.Cys637Tyr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000799875] Chr7:4790563 [GRCh38]
Chr7:4830194 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.969+3_969+6dup duplication Hereditary spastic paraplegia 48 [RCV000869846] Chr7:4785452..4785453 [GRCh38]
Chr7:4825083..4825084 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity
NM_014855.3(AP5Z1):c.1378G>A (p.Ala460Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000808908] Chr7:4787700 [GRCh38]
Chr7:4827331 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.617G>A (p.Arg206Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000823301]|Hereditary spastic paraplegia [RCV001849126]|Inborn genetic diseases [RCV004029138]|not provided [RCV002261231] Chr7:4783794 [GRCh38]
Chr7:4823425 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2232G>A (p.Ala744=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000872280]|Hereditary spastic paraplegia [RCV001847089] Chr7:4791193 [GRCh38]
Chr7:4830824 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.602C>T (p.Ser201Phe) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000824021] Chr7:4783779 [GRCh38]
Chr7:4823410 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2281C>G (p.Pro761Ala) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000824118] Chr7:4791242 [GRCh38]
Chr7:4830873 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.59A>T (p.Glu20Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001164611] Chr7:4781192 [GRCh38]
Chr7:4820823 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.238G>A (p.Glu80Lys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001164612]|Hereditary spastic paraplegia [RCV001847180] Chr7:4781626 [GRCh38]
Chr7:4821257 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*150G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165058]|not provided [RCV002462336] Chr7:4791535 [GRCh38]
Chr7:4831166 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1974C>T (p.Tyr658=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001164945] Chr7:4790708 [GRCh38]
Chr7:4830339 [GRCh37]
Chr7:7p22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*765C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165175] Chr7:4792150 [GRCh38]
Chr7:4831781 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1357T>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165286] Chr7:4792742 [GRCh38]
Chr7:4832373 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2013C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165407] Chr7:4793398 [GRCh38]
Chr7:4833029 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2248C>T (p.Arg750Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001068869]|not provided [RCV003311939] Chr7:4791209 [GRCh38]
Chr7:4830840 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.150C>T (p.Leu50=) single nucleotide variant not provided [RCV000870921] Chr7:4781283 [GRCh38]
Chr7:4820914 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*2624A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163702] Chr7:4794009 [GRCh38]
Chr7:4833640 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2639G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163703] Chr7:4794024 [GRCh38]
Chr7:4833655 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2328G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161891] Chr7:4793713 [GRCh38]
Chr7:4833344 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.589G>A (p.Gly197Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162656] Chr7:4783766 [GRCh38]
Chr7:4823397 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.605C>T (p.Thr202Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162657]|Inborn genetic diseases [RCV004032864] Chr7:4783782 [GRCh38]
Chr7:4823413 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1132+10G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162755] Chr7:4785694 [GRCh38]
Chr7:4825325 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1140G>A (p.Ala380=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162757] Chr7:4786257 [GRCh38]
Chr7:4825888 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1523C>G (p.Ala508Gly) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001246467]|Inborn genetic diseases [RCV004034864]|not provided [RCV001751497] Chr7:4788222 [GRCh38]
Chr7:4827853 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.*659G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163089] Chr7:4792044 [GRCh38]
Chr7:4831675 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1132+96del deletion not provided [RCV001544704] Chr7:4785761 [GRCh38]
Chr7:4825392 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.176G>A (p.Arg59Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001858735]|not provided [RCV000991539] Chr7:4781309 [GRCh38]
Chr7:4820940 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2015A>C (p.Glu672Ala) single nucleotide variant not provided [RCV000991540] Chr7:4790749 [GRCh38]
Chr7:4830380 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
NM_014855.3(AP5Z1):c.*2411C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163416] Chr7:4793796 [GRCh38]
Chr7:4833427 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2501G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163417] Chr7:4793886 [GRCh38]
Chr7:4833517 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.*1679C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161780] Chr7:4793064 [GRCh38]
Chr7:4832695 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2244G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161889] Chr7:4793629 [GRCh38]
Chr7:4833260 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2334C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161892] Chr7:4793719 [GRCh38]
Chr7:4833350 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2363C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161893] Chr7:4793748 [GRCh38]
Chr7:4833379 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1033C>T (p.Arg345Ter) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001220110]|Hereditary spastic paraplegia [RCV001847197]|not provided [RCV004720800] Chr7:4785585 [GRCh38]
Chr7:4825216 [GRCh37]
Chr7:7p22.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:4807055-4930807)x1 copy number loss not provided [RCV000845657] Chr7:4807055..4930807 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.366+4G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001208934] Chr7:4781758 [GRCh38]
Chr7:4821389 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1795G>A (p.Gly599Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001237634]|Hereditary spastic paraplegia [RCV001847202]|Inborn genetic diseases [RCV002563896] Chr7:4789919 [GRCh38]
Chr7:4829550 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.328C>T (p.Arg110Trp) single nucleotide variant AP5Z1-related disorder [RCV004756189]|Hereditary spastic paraplegia 48 [RCV001207431]|not provided [RCV001573146] Chr7:4781716 [GRCh38]
Chr7:4821347 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1312-19C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002536172]|Spastic paraplegia [RCV000850330] Chr7:4787615 [GRCh38]
Chr7:4827246 [GRCh37]
Chr7:7p22.1		 benign|uncertain significance
NM_014855.3(AP5Z1):c.798G>C (p.Arg266Ser) single nucleotide variant not provided [RCV003312675] Chr7:4784915 [GRCh38]
Chr7:4824546 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.678C>G (p.Leu226=) single nucleotide variant not provided [RCV000998756] Chr7:4784259 [GRCh38]
Chr7:4823890 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1207A>G (p.Ser403Gly) single nucleotide variant not provided [RCV000998758] Chr7:4786324 [GRCh38]
Chr7:4825955 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2354C>T (p.Thr785Met) single nucleotide variant not provided [RCV000998761] Chr7:4791315 [GRCh38]
Chr7:4830946 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.721C>T (p.Gln241Ter) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002549762]|not provided [RCV000991543] Chr7:4784302 [GRCh38]
Chr7:4823933 [GRCh37]
Chr7:7p22.1		 pathogenic|likely pathogenic
NM_014855.3(AP5Z1):c.*2841A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158788] Chr7:4794226 [GRCh38]
Chr7:4833857 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1455-12C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001164826] Chr7:4788142 [GRCh38]
Chr7:4827773 [GRCh37]
Chr7:7p22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*1260G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165285] Chr7:4792645 [GRCh38]
Chr7:4832276 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1531G>T (p.Asp511Tyr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001159918] Chr7:4788230 [GRCh38]
Chr7:4827861 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2151C>T (p.Pro717=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001160024] Chr7:4790885 [GRCh38]
Chr7:4830516 [GRCh37]
Chr7:7p22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*2983C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001160138] Chr7:4794368 [GRCh38]
Chr7:4833999 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.535C>T (p.Arg179Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161104] Chr7:4783712 [GRCh38]
Chr7:4823343 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*346A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158352] Chr7:4791731 [GRCh38]
Chr7:4831362 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1458C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158565] Chr7:4792843 [GRCh38]
Chr7:4832474 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.487C>T (p.Leu163Phe) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003104624] Chr7:4783436 [GRCh38]
Chr7:4823067 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1805+24C>T single nucleotide variant not provided [RCV001581541] Chr7:4789953 [GRCh38]
Chr7:4829584 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1805+115C>A single nucleotide variant not provided [RCV001569533] Chr7:4790044 [GRCh38]
Chr7:4829675 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.511+104G>A single nucleotide variant not provided [RCV001546266] Chr7:4783564 [GRCh38]
Chr7:4823195 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1311+239A>G single nucleotide variant not provided [RCV001577515] Chr7:4786667 [GRCh38]
Chr7:4826298 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1311+244G>C single nucleotide variant not provided [RCV001577570] Chr7:4786672 [GRCh38]
Chr7:4826303 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1606C>T (p.Leu536Phe) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003106728] Chr7:4788850 [GRCh38]
Chr7:4828481 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1455-36G>A single nucleotide variant not provided [RCV001575489] Chr7:4788118 [GRCh38]
Chr7:4827749 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.511+66A>G single nucleotide variant not provided [RCV001575000] Chr7:4783526 [GRCh38]
Chr7:4823157 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.969+34C>T single nucleotide variant not provided [RCV001549579] Chr7:4785486 [GRCh38]
Chr7:4825117 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1708-247A>C single nucleotide variant not provided [RCV001560445] Chr7:4789585 [GRCh38]
Chr7:4829216 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.791-222G>A single nucleotide variant not provided [RCV001560546] Chr7:4784686 [GRCh38]
Chr7:4824317 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1311+132G>A single nucleotide variant not provided [RCV001722908] Chr7:4786560 [GRCh38]
Chr7:4826191 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.366+242C>G single nucleotide variant not provided [RCV001619334] Chr7:4781996 [GRCh38]
Chr7:4821627 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1806-42T>G single nucleotide variant not provided [RCV001722910] Chr7:4790417 [GRCh38]
Chr7:4830048 [GRCh37]
Chr7:7p22.1		 benign
NC_000007.14:g.4775436C>A single nucleotide variant not provided [RCV001550190] Chr7:4775436 [GRCh38]
Chr7:4815067 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1312-319A>C single nucleotide variant not provided [RCV001598801] Chr7:4787315 [GRCh38]
Chr7:4826946 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1596-59C>T single nucleotide variant not provided [RCV001591589] Chr7:4788781 [GRCh38]
Chr7:4828412 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1806-135C>T single nucleotide variant not provided [RCV001616361] Chr7:4790324 [GRCh38]
Chr7:4829955 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1312-169G>A single nucleotide variant not provided [RCV001717903] Chr7:4787465 [GRCh38]
Chr7:4827096 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1595+241C>T single nucleotide variant not provided [RCV001674492] Chr7:4788535 [GRCh38]
Chr7:4828166 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.42-225T>C single nucleotide variant not provided [RCV001718232] Chr7:4780950 [GRCh38]
Chr7:4820581 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1455-76G>A single nucleotide variant not provided [RCV001548556] Chr7:4788078 [GRCh38]
Chr7:4827709 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1707+46T>C single nucleotide variant not provided [RCV001687595] Chr7:4788997 [GRCh38]
Chr7:4828628 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1805+125A>C single nucleotide variant not provided [RCV001685313] Chr7:4790054 [GRCh38]
Chr7:4829685 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1805+148_1805+155del deletion not provided [RCV001677842] Chr7:4790071..4790078 [GRCh38]
Chr7:4829702..4829709 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.2022G>A (p.Leu674=) single nucleotide variant not provided [RCV001592718] Chr7:4790756 [GRCh38]
Chr7:4830387 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.180-9G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV000865055] Chr7:4781559 [GRCh38]
Chr7:4821190 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1611C>T (p.His537=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002539014] Chr7:4788855 [GRCh38]
Chr7:4828486 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2109C>A (p.Thr703=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598007] Chr7:4790843 [GRCh38]
Chr7:4830474 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1794C>G (p.Ala598=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000861794] Chr7:4789918 [GRCh38]
Chr7:4829549 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2271G>A (p.Leu757=) single nucleotide variant not provided [RCV000931647] Chr7:4791232 [GRCh38]
Chr7:4830863 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1083G>A (p.Pro361=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000878718] Chr7:4785635 [GRCh38]
Chr7:4825266 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.684C>T (p.Ser228=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001164717] Chr7:4784265 [GRCh38]
Chr7:4823896 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.932-159A>G single nucleotide variant not provided [RCV001539589] Chr7:4785256 [GRCh38]
Chr7:4824887 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1254C>G (p.Leu418=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002538913] Chr7:4786371 [GRCh38]
Chr7:4826002 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1455-4G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001495703] Chr7:4788150 [GRCh38]
Chr7:4827781 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161318] Chr7:4788841 [GRCh38]
Chr7:4828472 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.428G>A (p.Arg143Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV000861469]|Hereditary spastic paraplegia [RCV001849143]|not provided [RCV001549567] Chr7:4783377 [GRCh38]
Chr7:4823008 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.511+6C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV000865429]|Inborn genetic diseases [RCV002536274] Chr7:4783466 [GRCh38]
Chr7:4823097 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1854G>C (p.Leu618=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001506638] Chr7:4790507 [GRCh38]
Chr7:4830138 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1023C>T (p.Ser341=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001505456] Chr7:4785575 [GRCh38]
Chr7:4825206 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*241G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158349] Chr7:4791626 [GRCh38]
Chr7:4831257 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*278G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158351] Chr7:4791663 [GRCh38]
Chr7:4831294 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*880C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158463]|not provided [RCV004695005] Chr7:4792265 [GRCh38]
Chr7:4831896 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1097T>C (p.Val366Ala) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001226137] Chr7:4785649 [GRCh38]
Chr7:4825280 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1873G>A (p.Asp625Asn) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001235865]|Hereditary spastic paraplegia [RCV001847201] Chr7:4790526 [GRCh38]
Chr7:4830157 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.351C>T (p.Ser117=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001159696] Chr7:4781739 [GRCh38]
Chr7:4821370 [GRCh37]
Chr7:7p22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001159697]|Inborn genetic diseases [RCV004639486]|not provided [RCV002473209] Chr7:4783341 [GRCh38]
Chr7:4822972 [GRCh37]
Chr7:7p22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*7A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162978] Chr7:4791392 [GRCh38]
Chr7:4831023 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*19C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162979] Chr7:4791404 [GRCh38]
Chr7:4831035 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*629C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163087] Chr7:4792014 [GRCh38]
Chr7:4831645 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1733C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163300] Chr7:4793118 [GRCh38]
Chr7:4832749 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.790+7G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001159800] Chr7:4784378 [GRCh38]
Chr7:4824009 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*149C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165057] Chr7:4791534 [GRCh38]
Chr7:4831165 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2131C>T (p.Arg711Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001220813]|not specified [RCV003398962] Chr7:4790865 [GRCh38]
Chr7:4830496 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1951G>A (p.Gly651Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001246627]|Inborn genetic diseases [RCV004639534] Chr7:4790685 [GRCh38]
Chr7:4830316 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.367-7T>C single nucleotide variant not provided [RCV000933955] Chr7:4783309 [GRCh38]
Chr7:4822940 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.790+7G>C single nucleotide variant not provided [RCV000934993] Chr7:4784378 [GRCh38]
Chr7:4824009 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2367G>C (p.Leu789=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002540087] Chr7:4791328 [GRCh38]
Chr7:4830959 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.220G>A (p.Gly74Ser) single nucleotide variant not provided [RCV000998755] Chr7:4781608 [GRCh38]
Chr7:4821239 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.928C>T (p.Arg310Ter) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001785749]|not provided [RCV000998757] Chr7:4785045 [GRCh38]
Chr7:4824676 [GRCh37]
Chr7:7p22.1		 pathogenic|likely pathogenic
NM_014855.3(AP5Z1):c.1311+129T>C single nucleotide variant not provided [RCV001556802] Chr7:4786557 [GRCh38]
Chr7:4826188 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.42-77C>T single nucleotide variant not provided [RCV001574998] Chr7:4781098 [GRCh38]
Chr7:4820729 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.41+285C>G single nucleotide variant not provided [RCV001660983] Chr7:4776041 [GRCh38]
Chr7:4815672 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1708-92C>G single nucleotide variant not provided [RCV001676116] Chr7:4789740 [GRCh38]
Chr7:4829371 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.180-28C>T single nucleotide variant not provided [RCV001552963] Chr7:4781540 [GRCh38]
Chr7:4821171 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1133-255C>T single nucleotide variant not provided [RCV001676219] Chr7:4785995 [GRCh38]
Chr7:4825626 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1595+103T>G single nucleotide variant not provided [RCV001635963] Chr7:4788397 [GRCh38]
Chr7:4828028 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.512-111G>T single nucleotide variant not provided [RCV001560585] Chr7:4783578 [GRCh38]
Chr7:4823209 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1805+73C>G single nucleotide variant not provided [RCV001568961] Chr7:4790002 [GRCh38]
Chr7:4829633 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1708-102C>T single nucleotide variant not provided [RCV001576753] Chr7:4789730 [GRCh38]
Chr7:4829361 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1312-298A>C single nucleotide variant not provided [RCV001674131] Chr7:4787336 [GRCh38]
Chr7:4826967 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1596-66G>A single nucleotide variant not provided [RCV001717337] Chr7:4788774 [GRCh38]
Chr7:4828405 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1595+152C>T single nucleotide variant not provided [RCV001717340] Chr7:4788446 [GRCh38]
Chr7:4828077 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1595+238T>C single nucleotide variant not provided [RCV001722912] Chr7:4788532 [GRCh38]
Chr7:4828163 [GRCh37]
Chr7:7p22.1		 benign
NC_000007.14:g.4775501G>A single nucleotide variant not provided [RCV001722921] Chr7:4775501 [GRCh38]
Chr7:4815132 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.367-310C>G single nucleotide variant not provided [RCV001671870] Chr7:4783006 [GRCh38]
Chr7:4822637 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1455-89A>C single nucleotide variant not provided [RCV001638858] Chr7:4788065 [GRCh38]
Chr7:4827696 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.791-228C>T single nucleotide variant not provided [RCV001618941] Chr7:4784680 [GRCh38]
Chr7:4824311 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1132+93_1132+96del deletion not provided [RCV001658777] Chr7:4785761..4785764 [GRCh38]
Chr7:4825392..4825395 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.367-60T>C single nucleotide variant not provided [RCV001653248] Chr7:4783256 [GRCh38]
Chr7:4822887 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.2167C>T (p.Leu723=) single nucleotide variant not provided [RCV001663573] Chr7:4791128 [GRCh38]
Chr7:4830759 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2154-83C>T single nucleotide variant not provided [RCV001581443] Chr7:4791032 [GRCh38]
Chr7:4830663 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1595+29C>A single nucleotide variant not provided [RCV001596423] Chr7:4788323 [GRCh38]
Chr7:4827954 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.366+170G>A single nucleotide variant not provided [RCV001718234] Chr7:4781924 [GRCh38]
Chr7:4821555 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1312-20C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002072258]|not provided [RCV001575459] Chr7:4787614 [GRCh38]
Chr7:4827245 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.1311+280T>C single nucleotide variant not provided [RCV001689284] Chr7:4786708 [GRCh38]
Chr7:4826339 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1133-19G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV002073061]|not provided [RCV001658763] Chr7:4786231 [GRCh38]
Chr7:4825862 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.511+87G>T single nucleotide variant not provided [RCV001599041] Chr7:4783547 [GRCh38]
Chr7:4823178 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1132+95_1132+96dup duplication not provided [RCV001720430] Chr7:4785760..4785761 [GRCh38]
Chr7:4825391..4825392 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=) single nucleotide variant AP5Z1-related disorder [RCV004756183]|Hereditary spastic paraplegia 48 [RCV001161321]|Hereditary spastic paraplegia [RCV001847175] Chr7:4789864 [GRCh38]
Chr7:4829495 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*940T>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161663] Chr7:4792325 [GRCh38]
Chr7:4831956 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*971C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161665] Chr7:4792356 [GRCh38]
Chr7:4831987 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*999C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161666] Chr7:4792384 [GRCh38]
Chr7:4832015 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1594C>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161778]|Hereditary spastic paraplegia [RCV001847176] Chr7:4792979 [GRCh38]
Chr7:4832610 [GRCh37]
Chr7:7p22.1		 benign|uncertain significance
NM_014855.3(AP5Z1):c.*1641A>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161779] Chr7:4793026 [GRCh38]
Chr7:4832657 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2306G>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161890] Chr7:4793691 [GRCh38]
Chr7:4833322 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.-26C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162562] Chr7:4775690 [GRCh38]
Chr7:4815321 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1003C>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163190] Chr7:4792388 [GRCh38]
Chr7:4832019 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1094G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163191] Chr7:4792479 [GRCh38]
Chr7:4832110 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1356G>A (p.Ala452=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162758] Chr7:4787678 [GRCh38]
Chr7:4827309 [GRCh37]
Chr7:7p22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.*586T>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163085]|not provided [RCV004707568] Chr7:4791971 [GRCh38]
Chr7:4831602 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*648C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163088] Chr7:4792033 [GRCh38]
Chr7:4831664 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1162C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163192]|not provided [RCV004695055] Chr7:4792547 [GRCh38]
Chr7:4832178 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1187G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163193] Chr7:4792572 [GRCh38]
Chr7:4832203 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*229G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158348] Chr7:4791614 [GRCh38]
Chr7:4831245 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*261G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158350] Chr7:4791646 [GRCh38]
Chr7:4831277 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*806G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158459] Chr7:4792191 [GRCh38]
Chr7:4831822 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2710A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163705] Chr7:4794095 [GRCh38]
Chr7:4833726 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*206G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158347] Chr7:4791591 [GRCh38]
Chr7:4831222 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*833C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158460] Chr7:4792218 [GRCh38]
Chr7:4831849 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*843G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158461] Chr7:4792228 [GRCh38]
Chr7:4831859 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*856G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158462]|Hereditary spastic paraplegia [RCV001847173] Chr7:4792241 [GRCh38]
Chr7:4831872 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.*2167G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158677] Chr7:4793552 [GRCh38]
Chr7:4833183 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2197A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158678]|Hereditary spastic paraplegia [RCV001847174] Chr7:4793582 [GRCh38]
Chr7:4833213 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.*2222G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158679] Chr7:4793607 [GRCh38]
Chr7:4833238 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.497G>A (p.Gly166Asp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161103] Chr7:4783446 [GRCh38]
Chr7:4823077 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.540G>A (p.Leu180=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161105] Chr7:4783717 [GRCh38]
Chr7:4823348 [GRCh37]
Chr7:7p22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.2363C>G (p.Pro788Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161442] Chr7:4791324 [GRCh38]
Chr7:4830955 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2760G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158786] Chr7:4794145 [GRCh38]
Chr7:4833776 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2812C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158787] Chr7:4794197 [GRCh38]
Chr7:4833828 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2089G>T (p.Val697Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001160023]|not provided [RCV003318662] Chr7:4790823 [GRCh38]
Chr7:4830454 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1132+96dup duplication not provided [RCV001666824] Chr7:4785760..4785761 [GRCh38]
Chr7:4825391..4825392 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1707+249_1707+291del deletion not provided [RCV001548310] Chr7:4789170..4789212 [GRCh38]
Chr7:4828801..4828843 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.622-111G>A single nucleotide variant not provided [RCV001695516] Chr7:4784092 [GRCh38]
Chr7:4823723 [GRCh37]
Chr7:7p22.1		 benign
NC_000007.14:g.4775504C>A single nucleotide variant not provided [RCV001616039] Chr7:4775504 [GRCh38]
Chr7:4815135 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.790+129A>G single nucleotide variant not provided [RCV001668030] Chr7:4784500 [GRCh38]
Chr7:4824131 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1454+73T>C single nucleotide variant not provided [RCV001714722] Chr7:4787849 [GRCh38]
Chr7:4827480 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1133-30C>T single nucleotide variant not provided [RCV001714640] Chr7:4786220 [GRCh38]
Chr7:4825851 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.41+141T>G single nucleotide variant not provided [RCV001648968] Chr7:4775897 [GRCh38]
Chr7:4815528 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.367-305C>T single nucleotide variant not provided [RCV001644151] Chr7:4783011 [GRCh38]
Chr7:4822642 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1805+197_1805+198insCT insertion not provided [RCV001681918] Chr7:4790126..4790127 [GRCh38]
Chr7:4829757..4829758 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1805+181T>C single nucleotide variant not provided [RCV001680291] Chr7:4790110 [GRCh38]
Chr7:4829741 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.41+216T>C single nucleotide variant not provided [RCV001694328] Chr7:4775972 [GRCh38]
Chr7:4815603 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1708-171G>A single nucleotide variant not provided [RCV001645072] Chr7:4789661 [GRCh38]
Chr7:4829292 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.511+95G>T single nucleotide variant not provided [RCV001672409] Chr7:4783555 [GRCh38]
Chr7:4823186 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1312-105G>C single nucleotide variant not provided [RCV001652497] Chr7:4787529 [GRCh38]
Chr7:4827160 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1806-80G>C single nucleotide variant not provided [RCV001564744] Chr7:4790379 [GRCh38]
Chr7:4830010 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*2364G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161894] Chr7:4793749 [GRCh38]
Chr7:4833380 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2018C>T (p.Ala673Val) single nucleotide variant not provided [RCV001663571] Chr7:4790752 [GRCh38]
Chr7:4830383 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.42-144A>T single nucleotide variant not provided [RCV001567984] Chr7:4781031 [GRCh38]
Chr7:4820662 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.660A>G (p.Thr220=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162661]|not provided [RCV003433064] Chr7:4784241 [GRCh38]
Chr7:4823872 [GRCh37]
Chr7:7p22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.1806-15C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162873] Chr7:4790444 [GRCh38]
Chr7:4830075 [GRCh37]
Chr7:7p22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.1846C>A (p.Pro616Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162874] Chr7:4790499 [GRCh38]
Chr7:4830130 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*625G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163086] Chr7:4792010 [GRCh38]
Chr7:4831641 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*669G>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163091] Chr7:4792054 [GRCh38]
Chr7:4831685 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1794C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163301] Chr7:4793179 [GRCh38]
Chr7:4832810 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1454+91C>T single nucleotide variant not provided [RCV001587077] Chr7:4787867 [GRCh38]
Chr7:4827498 [GRCh37]
Chr7:7p22.1		 likely benign
NC_000007.14:g.4775417G>A single nucleotide variant not provided [RCV001669937] Chr7:4775417 [GRCh38]
Chr7:4815048 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.932-43T>C single nucleotide variant not provided [RCV001540808] Chr7:4785372 [GRCh38]
Chr7:4825003 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1838C>T (p.Thr613Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001237089] Chr7:4790491 [GRCh38]
Chr7:4830122 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1587G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161777] Chr7:4792972 [GRCh38]
Chr7:4832603 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.970T>C (p.Cys324Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001053053] Chr7:4785522 [GRCh38]
Chr7:4825153 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.628C>T (p.Pro210Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162659]|Hereditary spastic paraplegia [RCV001847177] Chr7:4784209 [GRCh38]
Chr7:4823840 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.631G>A (p.Val211Ile) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162660]|not provided [RCV001508568] Chr7:4784212 [GRCh38]
Chr7:4823843 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2206A>G (p.Ser736Gly) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001201676] Chr7:4791167 [GRCh38]
Chr7:4830798 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.42G>A (p.Arg14=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001061315] Chr7:4781175 [GRCh38]
Chr7:4820806 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1785G>T (p.Gly595=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162872]|Hereditary spastic paraplegia [RCV001847178] Chr7:4789909 [GRCh38]
Chr7:4829540 [GRCh37]
Chr7:7p22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.379G>C (p.Glu127Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001057832] Chr7:4783328 [GRCh38]
Chr7:4822959 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2695T>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163704] Chr7:4794080 [GRCh38]
Chr7:4833711 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1970C>T (p.Thr657Ile) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001219005]|Hereditary spastic paraplegia [RCV001847195]|Inborn genetic diseases [RCV004032345] Chr7:4790704 [GRCh38]
Chr7:4830335 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.790+6C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001164718] Chr7:4784377 [GRCh38]
Chr7:4824008 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1422C>G (p.Pro474=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001164825] Chr7:4787744 [GRCh38]
Chr7:4827375 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.812G>A (p.Gly271Asp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001217881] Chr7:4784929 [GRCh38]
Chr7:4824560 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1938+11C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001164942] Chr7:4790602 [GRCh38]
Chr7:4830233 [GRCh37]
Chr7:7p22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.1963T>C (p.Ser655Pro) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001164943] Chr7:4790697 [GRCh38]
Chr7:4830328 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*158C>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165059]|not provided [RCV004695073] Chr7:4791543 [GRCh38]
Chr7:4831174 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1220A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165284] Chr7:4792605 [GRCh38]
Chr7:4832236 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.624G>A (p.Pro208=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001215121]|Hereditary spastic paraplegia [RCV001847193] Chr7:4784205 [GRCh38]
Chr7:4823836 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1430C>T (p.Thr477Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001232617] Chr7:4787752 [GRCh38]
Chr7:4827383 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2068C>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165408] Chr7:4793453 [GRCh38]
Chr7:4833084 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1789G>A (p.Ala597Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001232848] Chr7:4789913 [GRCh38]
Chr7:4829544 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2213C>T (p.Thr738Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001219632] Chr7:4791174 [GRCh38]
Chr7:4830805 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*119C>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162980] Chr7:4791504 [GRCh38]
Chr7:4831135 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*668G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001163090] Chr7:4792053 [GRCh38]
Chr7:4831684 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.821T>G (p.Leu274Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001228866] Chr7:4784938 [GRCh38]
Chr7:4824569 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1386C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158564] Chr7:4792771 [GRCh38]
Chr7:4832402 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1576T>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158566]|not provided [RCV004695007] Chr7:4792961 [GRCh38]
Chr7:4832592 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2228C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158680] Chr7:4793613 [GRCh38]
Chr7:4833244 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*2241G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001158681] Chr7:4793626 [GRCh38]
Chr7:4833257 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2194A>C (p.Ser732Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001040199]|Inborn genetic diseases [RCV002551464] Chr7:4791155 [GRCh38]
Chr7:4830786 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2174A>G (p.Lys725Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001160025] Chr7:4791135 [GRCh38]
Chr7:4830766 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1689C>A (p.Phe563Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002001511] Chr7:4788933 [GRCh38]
Chr7:4828564 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_014855.3(AP5Z1):c.1719del (p.Ser574fs) deletion Hereditary spastic paraplegia 48 [RCV003769417]|not provided [RCV001009190] Chr7:4789841 [GRCh38]
Chr7:4829472 [GRCh37]
Chr7:7p22.1		 pathogenic|likely pathogenic
NM_014855.3(AP5Z1):c.*190A>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165060] Chr7:4791575 [GRCh38]
Chr7:4831206 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*766C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165176] Chr7:4792151 [GRCh38]
Chr7:4831782 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*1219C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001165283] Chr7:4792604 [GRCh38]
Chr7:4832235 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1707+14C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161320] Chr7:4788965 [GRCh38]
Chr7:4828596 [GRCh37]
Chr7:7p22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014855.3(AP5Z1):c.2231C>T (p.Ala744Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161441] Chr7:4791192 [GRCh38]
Chr7:4830823 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2386C>T (p.Arg796Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161443] Chr7:4791347 [GRCh38]
Chr7:4830978 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*373G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161555] Chr7:4791758 [GRCh38]
Chr7:4831389 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*527G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161556] Chr7:4791912 [GRCh38]
Chr7:4831543 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*531G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161557] Chr7:4791916 [GRCh38]
Chr7:4831547 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*965C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001161664] Chr7:4792350 [GRCh38]
Chr7:4831981 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1144G>A (p.Ala382Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001063096] Chr7:4786261 [GRCh38]
Chr7:4825892 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.606G>A (p.Thr202=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001162658] Chr7:4783783 [GRCh38]
Chr7:4823414 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2407G>A (p.Gly803Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001034979] Chr7:4791368 [GRCh38]
Chr7:4830999 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.815C>G (p.Ser272Cys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001063847] Chr7:4784932 [GRCh38]
Chr7:4824563 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001251146]|not provided [RCV003227016] Chr7:4785048 [GRCh38]
Chr7:4824679 [GRCh37]
Chr7:7p22.1		 pathogenic|likely pathogenic
GRCh37/hg19 7p22.2-22.1(chr7:4457599-5138409)x3 copy number gain not provided [RCV001259990] Chr7:4457599..5138409 [GRCh37]
Chr7:7p22.2-22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1795G>T (p.Gly599Cys) single nucleotide variant not provided [RCV001663570] Chr7:4789919 [GRCh38]
Chr7:4829550 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2112G>A (p.Thr704=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002539650]|not specified [RCV001663572] Chr7:4790846 [GRCh38]
Chr7:4830477 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.37G>C (p.Ala13Pro) single nucleotide variant not provided [RCV001663574] Chr7:4775752 [GRCh38]
Chr7:4815383 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.41+232T>G single nucleotide variant not provided [RCV001580790] Chr7:4775988 [GRCh38]
Chr7:4815619 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.1(chr7:4733073-5157165)x3 copy number gain not provided [RCV001259438] Chr7:4733073..5157165 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.715A>T (p.Asn239Tyr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001331912] Chr7:4784296 [GRCh38]
Chr7:4823927 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.890C>G (p.Ala297Gly) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001331913] Chr7:4785007 [GRCh38]
Chr7:4824638 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2378C>T (p.Thr793Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002001574] Chr7:4791339 [GRCh38]
Chr7:4830970 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1618C>T (p.Leu540=) single nucleotide variant not provided [RCV001288782] Chr7:4788862 [GRCh38]
Chr7:4828493 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.478G>A (p.Val160Ile) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001342178]|Inborn genetic diseases [RCV003263978] Chr7:4783427 [GRCh38]
Chr7:4823058 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2113C>G (p.Leu705Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001306580] Chr7:4790847 [GRCh38]
Chr7:4830478 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1949T>G (p.Ile650Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001331910] Chr7:4790683 [GRCh38]
Chr7:4830314 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1776G>A (p.Pro592=) single nucleotide variant not provided [RCV004598808] Chr7:4789900 [GRCh38]
Chr7:4829531 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1551T>C (p.Leu517=) single nucleotide variant not provided [RCV001288780] Chr7:4788250 [GRCh38]
Chr7:4827881 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.869G>A (p.Arg290Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001799542] Chr7:4784986 [GRCh38]
Chr7:4824617 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1567C>T (p.Arg523Cys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001348528]|Hereditary spastic paraplegia [RCV001847249]|not provided [RCV003318682] Chr7:4788266 [GRCh38]
Chr7:4827897 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1730_1733del (p.Asn577fs) deletion Hereditary spastic paraplegia 48 [RCV001391433] Chr7:4789852..4789855 [GRCh38]
Chr7:4829483..4829486 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.1850C>T (p.Ser617Phe) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001308646] Chr7:4790503 [GRCh38]
Chr7:4830134 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.327C>T (p.Ser109=) single nucleotide variant not provided [RCV001288786] Chr7:4781715 [GRCh38]
Chr7:4821346 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1923C>G (p.Ser641Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001372848] Chr7:4790576 [GRCh38]
Chr7:4830207 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.760G>T (p.Gly254Cys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001325951] Chr7:4784341 [GRCh38]
Chr7:4823972 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1916G>C (p.Arg639Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001363880]|Inborn genetic diseases [RCV002550040]|not provided [RCV003481093] Chr7:4790569 [GRCh38]
Chr7:4830200 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1717G>A (p.Gly573Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001314374]|Inborn genetic diseases [RCV002543644] Chr7:4789841 [GRCh38]
Chr7:4829472 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.383A>T (p.Glu128Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001360166] Chr7:4783332 [GRCh38]
Chr7:4822963 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.158C>A (p.Ser53Ter) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001335677] Chr7:4781291 [GRCh38]
Chr7:4820922 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.880C>T (p.Arg294Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001335678]|Inborn genetic diseases [RCV002546742] Chr7:4784997 [GRCh38]
Chr7:4824628 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1360C>T (p.Leu454Phe) single nucleotide variant Hereditary spastic paraplegia [RCV001847230]|not provided [RCV001288778] Chr7:4787682 [GRCh38]
Chr7:4827313 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1939-1G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001391434] Chr7:4790672 [GRCh38]
Chr7:4830303 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.725C>T (p.Ala242Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001367791] Chr7:4784306 [GRCh38]
Chr7:4823937 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1568G>A (p.Arg523His) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001353171] Chr7:4788267 [GRCh38]
Chr7:4827898 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1323del (p.Ala440_Trp441insTer) deletion Hereditary spastic paraplegia 48 [RCV001391431] Chr7:4787644 [GRCh38]
Chr7:4827275 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.1596-3C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV001391432] Chr7:4788837 [GRCh38]
Chr7:4828468 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.2375G>A (p.Arg792His) single nucleotide variant AP5Z1-related disorder [RCV003938666]|Hereditary spastic paraplegia 48 [RCV001396113]|Hereditary spastic paraplegia [RCV001847258]|not provided [RCV001581117] Chr7:4791336 [GRCh38]
Chr7:4830967 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1530G>C (p.Arg510=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001395532] Chr7:4788229 [GRCh38]
Chr7:4827860 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1135G>A (p.Glu379Lys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002564252]|Inborn genetic diseases [RCV002567993]|not provided [RCV001508572] Chr7:4786252 [GRCh38]
Chr7:4825883 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1923C>T (p.Ser641=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001465282] Chr7:4790576 [GRCh38]
Chr7:4830207 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.765C>T (p.Pro255=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001498759] Chr7:4784346 [GRCh38]
Chr7:4823977 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.834C>T (p.Ser278=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001484558] Chr7:4784951 [GRCh38]
Chr7:4824582 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2025G>A (p.Glu675=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001486056] Chr7:4790759 [GRCh38]
Chr7:4830390 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.318G>A (p.Thr106=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001400525] Chr7:4781706 [GRCh38]
Chr7:4821337 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1839G>A (p.Thr613=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001431764] Chr7:4790492 [GRCh38]
Chr7:4830123 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.675G>C (p.Val225=) single nucleotide variant AP5Z1-related disorder [RCV003966045]|Hereditary spastic paraplegia 48 [RCV001506551] Chr7:4784256 [GRCh38]
Chr7:4823887 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.790+10G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001474867] Chr7:4784381 [GRCh38]
Chr7:4824012 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2148C>A (p.Ile716=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001427327] Chr7:4790882 [GRCh38]
Chr7:4830513 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.195C>T (p.Cys65=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001430026] Chr7:4781583 [GRCh38]
Chr7:4821214 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2153+8G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV001446493] Chr7:4790895 [GRCh38]
Chr7:4830526 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1407G>A (p.Ala469=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001444338] Chr7:4787729 [GRCh38]
Chr7:4827360 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.903C>T (p.Cys301=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001408218] Chr7:4785020 [GRCh38]
Chr7:4824651 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.791-4G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV001432220] Chr7:4784904 [GRCh38]
Chr7:4824535 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1133-195G>T single nucleotide variant not provided [RCV001679231] Chr7:4786055 [GRCh38]
Chr7:4825686 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1132+259G>A single nucleotide variant not provided [RCV001692764] Chr7:4785943 [GRCh38]
Chr7:4825574 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1312-2A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV002469403]|not provided [RCV001529809] Chr7:4787632 [GRCh38]
Chr7:4827263 [GRCh37]
Chr7:7p22.1		 likely pathogenic|uncertain significance
NM_014855.3(AP5Z1):c.1907T>C (p.Leu636Pro) single nucleotide variant not provided [RCV001508574] Chr7:4790560 [GRCh38]
Chr7:4830191 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1595+47G>A single nucleotide variant not provided [RCV001655535] Chr7:4788341 [GRCh38]
Chr7:4827972 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1312-205T>G single nucleotide variant not provided [RCV001654707] Chr7:4787429 [GRCh38]
Chr7:4827060 [GRCh37]
Chr7:7p22.1		 benign
NC_000007.14:g.4775532T>G single nucleotide variant not provided [RCV001688593] Chr7:4775532 [GRCh38]
Chr7:4815163 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.367-169G>C single nucleotide variant not provided [RCV001613877] Chr7:4783147 [GRCh38]
Chr7:4822778 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.465C>T (p.Pro155=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001503655] Chr7:4783414 [GRCh38]
Chr7:4823045 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2286C>T (p.Ser762=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001487456] Chr7:4791247 [GRCh38]
Chr7:4830878 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.791-110C>T single nucleotide variant not provided [RCV001696133] Chr7:4784798 [GRCh38]
Chr7:4824429 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1437G>T (p.Val479=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001456333] Chr7:4787759 [GRCh38]
Chr7:4827390 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1595+234A>G single nucleotide variant not provided [RCV001674321] Chr7:4788528 [GRCh38]
Chr7:4828159 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1500C>G (p.Leu500=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001489182] Chr7:4788199 [GRCh38]
Chr7:4827830 [GRCh37]
Chr7:7p22.1		 likely benign
NC_000007.13:g.(?_4816199)_4825153del deletion Hereditary spastic paraplegia 48 [RCV001378625]   likely pathogenic
NM_014855.3(AP5Z1):c.864G>A (p.Pro288=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001406819] Chr7:4784981 [GRCh38]
Chr7:4824612 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.120C>T (p.Asp40=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001496573] Chr7:4781253 [GRCh38]
Chr7:4820884 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1767G>C (p.Ser589=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001393480] Chr7:4789891 [GRCh38]
Chr7:4829522 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.753G>A (p.Leu251=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001424330] Chr7:4784334 [GRCh38]
Chr7:4823965 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.854G>A (p.Arg285His) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002564251]|not provided [RCV001508569] Chr7:4784971 [GRCh38]
Chr7:4824602 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2054G>A (p.Arg685His) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002540456]|not provided [RCV001755234] Chr7:4790788 [GRCh38]
Chr7:4830419 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2394G>T (p.Val798=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003109127] Chr7:4791355 [GRCh38]
Chr7:4830986 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.616C>G (p.Arg206Gly) single nucleotide variant not provided [RCV001755037] Chr7:4783793 [GRCh38]
Chr7:4823424 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1492A>G (p.Thr498Ala) single nucleotide variant not provided [RCV001755036] Chr7:4788191 [GRCh38]
Chr7:4827822 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.556T>C (p.Tyr186His) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002540453]|not provided [RCV001755145] Chr7:4783733 [GRCh38]
Chr7:4823364 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1315del (p.Leu439fs) deletion Hereditary spastic paraplegia 48 [RCV001784670] Chr7:4787636 [GRCh38]
Chr7:4827267 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.792_793insA (p.Asp265fs) insertion Hereditary spastic paraplegia 48 [RCV001784673] Chr7:4784909..4784910 [GRCh38]
Chr7:4824540..4824541 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.1057C>G (p.Leu353Val) single nucleotide variant not provided [RCV001774781] Chr7:4785609 [GRCh38]
Chr7:4825240 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1474G>A (p.Glu492Lys) single nucleotide variant not provided [RCV001732960] Chr7:4788173 [GRCh38]
Chr7:4827804 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2010C>A (p.Phe670Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001823306]|not provided [RCV001762936] Chr7:4790744 [GRCh38]
Chr7:4830375 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1323G>A (p.Trp441Ter) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001784677] Chr7:4787645 [GRCh38]
Chr7:4827276 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.1484T>G (p.Leu495Arg) single nucleotide variant not provided [RCV001772713] Chr7:4788183 [GRCh38]
Chr7:4827814 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1319C>T (p.Ala440Val) single nucleotide variant not provided [RCV001767755] Chr7:4787641 [GRCh38]
Chr7:4827272 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2332C>T (p.Arg778Cys) single nucleotide variant not provided [RCV001773868] Chr7:4791293 [GRCh38]
Chr7:4830924 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2352C>A (p.Asn784Lys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002471147]|not provided [RCV001756826] Chr7:4791313 [GRCh38]
Chr7:4830944 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2399G>A (p.Arg800Lys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001799550] Chr7:4791360 [GRCh38]
Chr7:4830991 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1110C>T (p.Leu370=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002077273]|not provided [RCV001815959] Chr7:4785662 [GRCh38]
Chr7:4825293 [GRCh37]
Chr7:7p22.1		 likely benign
NC_000007.13:g.4736454_4860123dup duplication Megacolon [RCV001290076] Chr7:4736454..4860123 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1454+57T>C single nucleotide variant not provided [RCV001822059] Chr7:4787833 [GRCh38]
Chr7:4827464 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1455-62C>T single nucleotide variant not provided [RCV001822026] Chr7:4788092 [GRCh38]
Chr7:4827723 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.460C>T (p.Leu154Phe) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002044801] Chr7:4783409 [GRCh38]
Chr7:4823040 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.699A>G (p.Thr233=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002543389]|Hereditary spastic paraplegia [RCV001848339] Chr7:4784280 [GRCh38]
Chr7:4823911 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.973C>A (p.Leu325Met) single nucleotide variant Hereditary spastic paraplegia [RCV001848341]|Inborn genetic diseases [RCV002545268] Chr7:4785525 [GRCh38]
Chr7:4825156 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.107A>G (p.Asp36Gly) single nucleotide variant Hereditary spastic paraplegia [RCV001848310] Chr7:4781240 [GRCh38]
Chr7:4820871 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.299G>A (p.Ser100Asn) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002034751]|Hereditary spastic paraplegia [RCV001848335] Chr7:4781687 [GRCh38]
Chr7:4821318 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.500C>A (p.Thr167Asn) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001823651] Chr7:4783449 [GRCh38]
Chr7:4823080 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1643G>A (p.Arg548His) single nucleotide variant AP5Z1-related disorder [RCV004756308]|Hereditary spastic paraplegia 48 [RCV001892739] Chr7:4788887 [GRCh38]
Chr7:4828518 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.209A>T (p.Gln70Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002006869] Chr7:4781597 [GRCh38]
Chr7:4821228 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2289G>C (p.Val763=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002034750]|Hereditary spastic paraplegia [RCV001848329] Chr7:4791250 [GRCh38]
Chr7:4830881 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.791-3C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV001909133] Chr7:4784905 [GRCh38]
Chr7:4824536 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1132+1_1132+3del deletion Hereditary spastic paraplegia 48 [RCV001984185] Chr7:4785684..4785686 [GRCh38]
Chr7:4825315..4825317 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.1190C>T (p.Pro397Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002040052]|not provided [RCV004693795] Chr7:4786307 [GRCh38]
Chr7:4825938 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.*10G>A single nucleotide variant Hereditary spastic paraplegia [RCV001848267] Chr7:4791395 [GRCh38]
Chr7:4831026 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1000G>A (p.Val334Met) single nucleotide variant Hereditary spastic paraplegia [RCV001848293] Chr7:4785552 [GRCh38]
Chr7:4825183 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1032C>T (p.Tyr344=) single nucleotide variant Hereditary spastic paraplegia [RCV001848295] Chr7:4785584 [GRCh38]
Chr7:4825215 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1043C>T (p.Ser348Phe) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003992566]|Hereditary spastic paraplegia [RCV001848301]|not provided [RCV003434330] Chr7:4785595 [GRCh38]
Chr7:4825226 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1315C>G (p.Leu439Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002543386]|Hereditary spastic paraplegia [RCV001848315]|Inborn genetic diseases [RCV002543385] Chr7:4787637 [GRCh38]
Chr7:4827268 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1493C>T (p.Thr498Ile) single nucleotide variant Hereditary spastic paraplegia [RCV001848316] Chr7:4788192 [GRCh38]
Chr7:4827823 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1674G>T (p.Thr558=) single nucleotide variant Hereditary spastic paraplegia [RCV001848321] Chr7:4788918 [GRCh38]
Chr7:4828549 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.171C>T (p.Tyr57=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598062]|Hereditary spastic paraplegia [RCV001848322] Chr7:4781304 [GRCh38]
Chr7:4820935 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1740G>T (p.Ala580=) single nucleotide variant Hereditary spastic paraplegia [RCV001848323] Chr7:4789864 [GRCh38]
Chr7:4829495 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1989C>T (p.Thr663=) single nucleotide variant Hereditary spastic paraplegia [RCV001848325] Chr7:4790723 [GRCh38]
Chr7:4830354 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2201C>T (p.Ala734Val) single nucleotide variant Hereditary spastic paraplegia [RCV001848327] Chr7:4791162 [GRCh38]
Chr7:4830793 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2291C>T (p.Ala764Val) single nucleotide variant Hereditary spastic paraplegia [RCV001848331] Chr7:4791252 [GRCh38]
Chr7:4830883 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2379G>C (p.Thr793=) single nucleotide variant Hereditary spastic paraplegia [RCV001848332] Chr7:4791340 [GRCh38]
Chr7:4830971 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.343G>C (p.Val115Leu) single nucleotide variant Hereditary spastic paraplegia [RCV001848336] Chr7:4781731 [GRCh38]
Chr7:4821362 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.8C>T (p.Ser3Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001964866]|not provided [RCV003481196] Chr7:4775723 [GRCh38]
Chr7:4815354 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.536G>A (p.Arg179Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001885414]|Hereditary spastic paraplegia [RCV001848338] Chr7:4783713 [GRCh38]
Chr7:4823344 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.385G>T (p.Val129Phe) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001984741]|Inborn genetic diseases [RCV003264298] Chr7:4783334 [GRCh38]
Chr7:4822965 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2306C>G (p.Thr769Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001948336] Chr7:4791267 [GRCh38]
Chr7:4830898 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.117G>A (p.Pro39=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002543384]|Hereditary spastic paraplegia [RCV001848314] Chr7:4781250 [GRCh38]
Chr7:4820881 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1543C>T (p.Gln515Ter) single nucleotide variant Hereditary spastic paraplegia [RCV001848317] Chr7:4788242 [GRCh38]
Chr7:4827873 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.271C>T (p.Arg91Ter) single nucleotide variant Hereditary spastic paraplegia [RCV001848333] Chr7:4781659 [GRCh38]
Chr7:4821290 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.295del (p.Leu99fs) deletion Hereditary spastic paraplegia [RCV001848334] Chr7:4781682 [GRCh38]
Chr7:4821313 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.1642C>T (p.Arg548Cys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002545265]|Hereditary spastic paraplegia [RCV001848319] Chr7:4788886 [GRCh38]
Chr7:4828517 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1665C>T (p.Ala555=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002545266]|Hereditary spastic paraplegia [RCV001848320] Chr7:4788909 [GRCh38]
Chr7:4828540 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1906C>G (p.Leu636Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002543387]|Hereditary spastic paraplegia [RCV001848324]|Inborn genetic diseases [RCV002543388] Chr7:4790559 [GRCh38]
Chr7:4830190 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2001CAA[1] (p.Asn668del) microsatellite Hereditary spastic paraplegia [RCV001848326] Chr7:4790735..4790737 [GRCh38]
Chr7:4830366..4830368 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2249G>A (p.Arg750Gln) single nucleotide variant Hereditary spastic paraplegia [RCV001848328] Chr7:4791210 [GRCh38]
Chr7:4830841 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.529A>G (p.Ser177Gly) single nucleotide variant Hereditary spastic paraplegia [RCV001848337] Chr7:4783706 [GRCh38]
Chr7:4823337 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.948G>C (p.Gly316=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002543390]|Hereditary spastic paraplegia [RCV001848340] Chr7:4785431 [GRCh38]
Chr7:4825062 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.978G>A (p.Val326=) single nucleotide variant Hereditary spastic paraplegia [RCV001848342] Chr7:4785530 [GRCh38]
Chr7:4825161 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.355C>G (p.Leu119Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002018140] Chr7:4781743 [GRCh38]
Chr7:4821374 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.656C>G (p.Ala219Gly) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002018141] Chr7:4784237 [GRCh38]
Chr7:4823868 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2079_2100del (p.Cys693_Pro694insTer) deletion Hereditary spastic paraplegia 48 [RCV001962126] Chr7:4790810..4790831 [GRCh38]
Chr7:4830441..4830462 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.575G>A (p.Gly192Glu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001878179]|Inborn genetic diseases [RCV004039601] Chr7:4783752 [GRCh38]
Chr7:4823383 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.835G>A (p.Ala279Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001976052] Chr7:4784952 [GRCh38]
Chr7:4824583 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.172A>G (p.Ser58Gly) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001955669]|Inborn genetic diseases [RCV004043642] Chr7:4781305 [GRCh38]
Chr7:4820936 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.195C>G (p.Cys65Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001902005] Chr7:4781583 [GRCh38]
Chr7:4821214 [GRCh37]
Chr7:7p22.1		 uncertain significance
NC_000007.13:g.(?_4815347)_(5792630_?)dup duplication Baraitser-Winter syndrome 1 [RCV001978085] Chr7:4815347..5792630 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.49C>T (p.Gln17Ter) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001956257] Chr7:4781182 [GRCh38]
Chr7:4820813 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.2142T>G (p.Asp714Glu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001978382] Chr7:4790876 [GRCh38]
Chr7:4830507 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2363_2374del (p.Pro788_Leu791del) deletion Hereditary spastic paraplegia 48 [RCV002035778] Chr7:4791316..4791327 [GRCh38]
Chr7:4830947..4830958 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2339A>C (p.His780Pro) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001925340] Chr7:4791300 [GRCh38]
Chr7:4830931 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.164C>T (p.Thr55Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002014832]|not provided [RCV002224121] Chr7:4781297 [GRCh38]
Chr7:4820928 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.739C>T (p.Arg247Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002048572] Chr7:4784320 [GRCh38]
Chr7:4823951 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1365G>A (p.Pro455=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001960013] Chr7:4787687 [GRCh38]
Chr7:4827318 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1762G>A (p.Asp588Asn) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001998375]|Inborn genetic diseases [RCV002579507] Chr7:4789886 [GRCh38]
Chr7:4829517 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1132+94_1132+96del deletion not provided [RCV002034785] Chr7:4785761..4785763 [GRCh38]
Chr7:4825392..4825394 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.80G>A (p.Arg27Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV001930819]|Inborn genetic diseases [RCV004651822] Chr7:4781213 [GRCh38]
Chr7:4820844 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.790+18A>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002130061] Chr7:4784389 [GRCh38]
Chr7:4824020 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.366+9G>A single nucleotide variant AP5Z1-related disorder [RCV003958867]|Hereditary spastic paraplegia 48 [RCV002128655] Chr7:4781763 [GRCh38]
Chr7:4821394 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1595+8del deletion Hereditary spastic paraplegia 48 [RCV002192256] Chr7:4788299 [GRCh38]
Chr7:4827930 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.2196T>C (p.Ser732=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002190038] Chr7:4791157 [GRCh38]
Chr7:4830788 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.511+19A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV002128437] Chr7:4783479 [GRCh38]
Chr7:4823110 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2085C>T (p.Pro695=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002105728] Chr7:4790819 [GRCh38]
Chr7:4830450 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1707+25dup duplication Hereditary spastic paraplegia 48 [RCV002205350] Chr7:4788970..4788971 [GRCh38]
Chr7:4828601..4828602 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.378C>T (p.Asn126=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002197638] Chr7:4783327 [GRCh38]
Chr7:4822958 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1767G>T (p.Ser589=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002077735] Chr7:4789891 [GRCh38]
Chr7:4829522 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1454+13C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002132267] Chr7:4787789 [GRCh38]
Chr7:4827420 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1708-16C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002215996] Chr7:4789816 [GRCh38]
Chr7:4829447 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.984C>G (p.Ala328=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002166114] Chr7:4785536 [GRCh38]
Chr7:4825167 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.543C>T (p.Val181=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003089126]|not provided [RCV002214425] Chr7:4783720 [GRCh38]
Chr7:4823351 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.179+15G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002215171] Chr7:4781327 [GRCh38]
Chr7:4820958 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2274G>A (p.Leu758=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002096489] Chr7:4791235 [GRCh38]
Chr7:4830866 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1707+8C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV003495261]|not provided [RCV002224809] Chr7:4788959 [GRCh38]
Chr7:4828590 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.41+16G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002132038] Chr7:4775772 [GRCh38]
Chr7:4815403 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1595+16G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002215574] Chr7:4788310 [GRCh38]
Chr7:4827941 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1566G>T (p.Leu522=) single nucleotide variant AP5Z1-related disorder [RCV003970924]|Hereditary spastic paraplegia 48 [RCV002117834] Chr7:4788265 [GRCh38]
Chr7:4827896 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_014855.3(AP5Z1):c.1939-11C>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002138041] Chr7:4790662 [GRCh38]
Chr7:4830293 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1595+19A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV002181692] Chr7:4788313 [GRCh38]
Chr7:4827944 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1665C>G (p.Ala555=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002163433] Chr7:4788909 [GRCh38]
Chr7:4828540 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1026C>T (p.Phe342=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002219239] Chr7:4785578 [GRCh38]
Chr7:4825209 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1965G>C (p.Ser655=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002164162] Chr7:4790699 [GRCh38]
Chr7:4830330 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.2154-16G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV002144014] Chr7:4791099 [GRCh38]
Chr7:4830730 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1788C>T (p.Tyr596=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002159148] Chr7:4789912 [GRCh38]
Chr7:4829543 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.2220C>T (p.Ser740=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003110363] Chr7:4791181 [GRCh38]
Chr7:4830812 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2355G>A (p.Thr785=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003115601] Chr7:4791316 [GRCh38]
Chr7:4830947 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1505C>T (p.Ala502Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003118428] Chr7:4788204 [GRCh38]
Chr7:4827835 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.505C>T (p.Gln169Ter) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003233449] Chr7:4783454 [GRCh38]
Chr7:4823085 [GRCh37]
Chr7:7p22.1		 likely pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_014855.3(AP5Z1):c.1638T>G (p.Cys546Trp) single nucleotide variant not provided [RCV002261817] Chr7:4788882 [GRCh38]
Chr7:4828513 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.664T>A (p.Phe222Ile) single nucleotide variant not provided [RCV002276161] Chr7:4784245 [GRCh38]
Chr7:4823876 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 copy number gain See cases [RCV002292426] Chr7:43360..9649794 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_014855.3(AP5Z1):c.1018C>T (p.Pro340Ser) single nucleotide variant not provided [RCV002261816] Chr7:4785570 [GRCh38]
Chr7:4825201 [GRCh37]
Chr7:7p22.1		 conflicting interpretations of pathogenicity
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
NM_014855.3(AP5Z1):c.2208C>G (p.Ser736Arg) single nucleotide variant Inborn genetic diseases [RCV003285530] Chr7:4791169 [GRCh38]
Chr7:4830800 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1957T>A (p.Tyr653Asn) single nucleotide variant not provided [RCV003149366] Chr7:4790691 [GRCh38]
Chr7:4830322 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2290G>A (p.Ala764Thr) single nucleotide variant Inborn genetic diseases [RCV003288131] Chr7:4791251 [GRCh38]
Chr7:4830882 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1549C>T (p.Leu517Phe) single nucleotide variant not provided [RCV002474201] Chr7:4788248 [GRCh38]
Chr7:4827879 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2221G>C (p.Glu741Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002303093]|not provided [RCV004694214] Chr7:4791182 [GRCh38]
Chr7:4830813 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2377A>G (p.Thr793Ala) single nucleotide variant Inborn genetic diseases [RCV002682644] Chr7:4791338 [GRCh38]
Chr7:4830969 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2321T>G (p.Val774Gly) single nucleotide variant Inborn genetic diseases [RCV002905866] Chr7:4791282 [GRCh38]
Chr7:4830913 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1388C>G (p.Ala463Gly) single nucleotide variant Inborn genetic diseases [RCV002841193] Chr7:4787710 [GRCh38]
Chr7:4827341 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1096G>T (p.Val366Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003075193] Chr7:4785648 [GRCh38]
Chr7:4825279 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2153+13G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV003095416] Chr7:4790900 [GRCh38]
Chr7:4830531 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2413A>G (p.Met805Val) single nucleotide variant not provided [RCV002512329] Chr7:4791374 [GRCh38]
Chr7:4831005 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1424G>A (p.Cys475Tyr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002731466] Chr7:4787746 [GRCh38]
Chr7:4827377 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.954C>T (p.Ser318=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002615703] Chr7:4785437 [GRCh38]
Chr7:4825068 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.*977_*1003del deletion not provided [RCV002512330] Chr7:4792352..4792378 [GRCh38]
Chr7:4831983..4832009 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.1037G>C (p.Ser346Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598140]|not provided [RCV002461900] Chr7:4785589 [GRCh38]
Chr7:4825220 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1345G>A (p.Glu449Lys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003034167] Chr7:4787667 [GRCh38]
Chr7:4827298 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1405G>A (p.Ala469Thr) single nucleotide variant Inborn genetic diseases [RCV002688696] Chr7:4787727 [GRCh38]
Chr7:4827358 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1281C>A (p.Thr427=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002995355] Chr7:4786398 [GRCh38]
Chr7:4826029 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1891G>C (p.Gly631Arg) single nucleotide variant Inborn genetic diseases [RCV002778389] Chr7:4790544 [GRCh38]
Chr7:4830175 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.41+9G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV003073564] Chr7:4775765 [GRCh38]
Chr7:4815396 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1101G>A (p.Leu367=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002907697] Chr7:4785653 [GRCh38]
Chr7:4825284 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1805+16G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002908035] Chr7:4789945 [GRCh38]
Chr7:4829576 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1534C>G (p.Pro512Ala) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002842609] Chr7:4788233 [GRCh38]
Chr7:4827864 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1805+11C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002996214] Chr7:4789940 [GRCh38]
Chr7:4829571 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.905A>G (p.Gln302Arg) single nucleotide variant Inborn genetic diseases [RCV002773178] Chr7:4785022 [GRCh38]
Chr7:4824653 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2394G>A (p.Val798=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003075332] Chr7:4791355 [GRCh38]
Chr7:4830986 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1260G>A (p.Leu420=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002972031] Chr7:4786377 [GRCh38]
Chr7:4826008 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1585G>T (p.Ala529Ser) single nucleotide variant Inborn genetic diseases [RCV002880025] Chr7:4788284 [GRCh38]
Chr7:4827915 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.969+14G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002755796] Chr7:4785466 [GRCh38]
Chr7:4825097 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1633G>A (p.Gly545Ser) single nucleotide variant Inborn genetic diseases [RCV002688759] Chr7:4788877 [GRCh38]
Chr7:4828508 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.955G>A (p.Asp319Asn) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002974808] Chr7:4785438 [GRCh38]
Chr7:4825069 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.179+3G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002996466] Chr7:4781315 [GRCh38]
Chr7:4820946 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1 copy number loss not provided [RCV002475747] Chr7:4655928..5990874 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.957C>T (p.Asp319=) single nucleotide variant not provided [RCV002512328] Chr7:4785440 [GRCh38]
Chr7:4825071 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.621+18C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV003034501] Chr7:4783816 [GRCh38]
Chr7:4823447 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1872A>G (p.Arg624=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002681399] Chr7:4790525 [GRCh38]
Chr7:4830156 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1159G>A (p.Ala387Thr) single nucleotide variant Inborn genetic diseases [RCV002778711] Chr7:4786276 [GRCh38]
Chr7:4825907 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.41+15C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002975024] Chr7:4775771 [GRCh38]
Chr7:4815402 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1378G>T (p.Ala460Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003079283]|Inborn genetic diseases [RCV003075026] Chr7:4787700 [GRCh38]
Chr7:4827331 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.41+19C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002795410] Chr7:4775775 [GRCh38]
Chr7:4815406 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1455-14G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002948717] Chr7:4788140 [GRCh38]
Chr7:4827771 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1108C>G (p.Leu370Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002780603] Chr7:4785660 [GRCh38]
Chr7:4825291 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.685G>A (p.Gly229Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002927413]|Inborn genetic diseases [RCV003170572] Chr7:4784266 [GRCh38]
Chr7:4823897 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1569C>T (p.Arg523=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002786090] Chr7:4788268 [GRCh38]
Chr7:4827899 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.318G>C (p.Thr106=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003002057] Chr7:4781706 [GRCh38]
Chr7:4821337 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.872A>C (p.Glu291Ala) single nucleotide variant Inborn genetic diseases [RCV002739969] Chr7:4784989 [GRCh38]
Chr7:4824620 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1595+10C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002795749] Chr7:4788304 [GRCh38]
Chr7:4827935 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2117C>T (p.Thr706Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002998930]|Inborn genetic diseases [RCV002998929] Chr7:4790851 [GRCh38]
Chr7:4830482 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2202C>A (p.Ala734=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002914173] Chr7:4791163 [GRCh38]
Chr7:4830794 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.775G>A (p.Gly259Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002636323] Chr7:4784356 [GRCh38]
Chr7:4823987 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2209_2221dup (p.Glu741fs) duplication not provided [RCV002510107] Chr7:4791169..4791170 [GRCh38]
Chr7:4830800..4830801 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2374C>T (p.Arg792Cys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002909557] Chr7:4791335 [GRCh38]
Chr7:4830966 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2357C>T (p.Ala786Val) single nucleotide variant Inborn genetic diseases [RCV002845915] Chr7:4791318 [GRCh38]
Chr7:4830949 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1133-12C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV002886419] Chr7:4786238 [GRCh38]
Chr7:4825869 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.853C>T (p.Arg285Cys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002962559]|Inborn genetic diseases [RCV002949450] Chr7:4784970 [GRCh38]
Chr7:4824601 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1589C>G (p.Thr530Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002820699] Chr7:4788288 [GRCh38]
Chr7:4827919 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2111C>T (p.Thr704Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003061593]|Inborn genetic diseases [RCV003079156] Chr7:4790845 [GRCh38]
Chr7:4830476 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1673C>T (p.Thr558Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003001838]|Inborn genetic diseases [RCV003001839] Chr7:4788917 [GRCh38]
Chr7:4828548 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1290G>C (p.Leu430Phe) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002760178] Chr7:4786407 [GRCh38]
Chr7:4826038 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.717C>T (p.Asn239=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002846454] Chr7:4784298 [GRCh38]
Chr7:4823929 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1311+7T>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV003079180] Chr7:4786435 [GRCh38]
Chr7:4826066 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1596-20C>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002662625] Chr7:4788820 [GRCh38]
Chr7:4828451 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1939G>A (p.Val647Met) single nucleotide variant Inborn genetic diseases [RCV002692640] Chr7:4790673 [GRCh38]
Chr7:4830304 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1904G>A (p.Gly635Asp) single nucleotide variant Inborn genetic diseases [RCV002911407] Chr7:4790557 [GRCh38]
Chr7:4830188 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1708-18C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002736640] Chr7:4789814 [GRCh38]
Chr7:4829445 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.908G>A (p.Arg303His) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003002041] Chr7:4785025 [GRCh38]
Chr7:4824656 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1344C>T (p.Ser448=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002885858] Chr7:4787666 [GRCh38]
Chr7:4827297 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1063G>A (p.Gly355Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002886647] Chr7:4785615 [GRCh38]
Chr7:4825246 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.612G>A (p.Arg204=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003077406] Chr7:4783789 [GRCh38]
Chr7:4823420 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.546C>T (p.Asp182=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003078187]|not provided [RCV004707813] Chr7:4783723 [GRCh38]
Chr7:4823354 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1707+1G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598146]|Inborn genetic diseases [RCV002845649] Chr7:4788952 [GRCh38]
Chr7:4828583 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.511+9G>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002638511] Chr7:4783469 [GRCh38]
Chr7:4823100 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.200A>T (p.Asp67Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002766583] Chr7:4781588 [GRCh38]
Chr7:4821219 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.262G>A (p.Ala88Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002627168]|Inborn genetic diseases [RCV002649741] Chr7:4781650 [GRCh38]
Chr7:4821281 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.652G>T (p.Val218Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002626360] Chr7:4784233 [GRCh38]
Chr7:4823864 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.41+5G>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002667048] Chr7:4775761 [GRCh38]
Chr7:4815392 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.932-7C>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002574399] Chr7:4785408 [GRCh38]
Chr7:4825039 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1632C>T (p.Ala544=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003006468]|not provided [RCV004584988] Chr7:4788876 [GRCh38]
Chr7:4828507 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.791-5C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV002790702] Chr7:4784903 [GRCh38]
Chr7:4824534 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1208G>A (p.Ser403Asn) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003059060]|Inborn genetic diseases [RCV004654113] Chr7:4786325 [GRCh38]
Chr7:4825956 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1251C>T (p.Asn417=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002958950] Chr7:4786368 [GRCh38]
Chr7:4825999 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1415A>G (p.Asp472Gly) single nucleotide variant Inborn genetic diseases [RCV002787513] Chr7:4787737 [GRCh38]
Chr7:4827368 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1374G>A (p.Val458=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002664357] Chr7:4787696 [GRCh38]
Chr7:4827327 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1131C>G (p.His377Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003056829] Chr7:4785683 [GRCh38]
Chr7:4825314 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2105T>C (p.Met702Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003005032] Chr7:4790839 [GRCh38]
Chr7:4830470 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.196G>A (p.Val66Ile) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003006456]|Inborn genetic diseases [RCV003367945]|not provided [RCV003434543] Chr7:4781584 [GRCh38]
Chr7:4821215 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.766G>C (p.Glu256Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003022755] Chr7:4784347 [GRCh38]
Chr7:4823978 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.952T>G (p.Ser318Ala) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002624711] Chr7:4785435 [GRCh38]
Chr7:4825066 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2054G>C (p.Arg685Pro) single nucleotide variant Inborn genetic diseases [RCV002765305] Chr7:4790788 [GRCh38]
Chr7:4830419 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.98A>G (p.Gln33Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003081891] Chr7:4781231 [GRCh38]
Chr7:4820862 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2199A>T (p.Pro733=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003041958] Chr7:4791160 [GRCh38]
Chr7:4830791 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1642C>G (p.Arg548Gly) single nucleotide variant Inborn genetic diseases [RCV002763548] Chr7:4788886 [GRCh38]
Chr7:4828517 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.732T>C (p.Ser244=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002627099] Chr7:4784313 [GRCh38]
Chr7:4823944 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1955A>G (p.Glu652Gly) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002596312] Chr7:4790689 [GRCh38]
Chr7:4830320 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1674G>A (p.Thr558=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002625247] Chr7:4788918 [GRCh38]
Chr7:4828549 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1455-18G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002710540] Chr7:4788136 [GRCh38]
Chr7:4827767 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1950C>T (p.Ile650=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002828801] Chr7:4790684 [GRCh38]
Chr7:4830315 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1766C>G (p.Ser589Trp) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003084375]|Inborn genetic diseases [RCV003084374] Chr7:4789890 [GRCh38]
Chr7:4829521 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.180-3C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002872411] Chr7:4781565 [GRCh38]
Chr7:4821196 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1596-3C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002851914] Chr7:4788837 [GRCh38]
Chr7:4828468 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.703G>A (p.Asp235Asn) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002917243] Chr7:4784284 [GRCh38]
Chr7:4823915 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1339A>G (p.Thr447Ala) single nucleotide variant Inborn genetic diseases [RCV003006714]|not specified [RCV003396870] Chr7:4787661 [GRCh38]
Chr7:4827292 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2184C>T (p.Thr728=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002625050] Chr7:4791145 [GRCh38]
Chr7:4830776 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2312G>A (p.Ser771Asn) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002624531] Chr7:4791273 [GRCh38]
Chr7:4830904 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.731C>G (p.Ser244Cys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003024741] Chr7:4784312 [GRCh38]
Chr7:4823943 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.67A>T (p.Lys23Ter) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003083686] Chr7:4781200 [GRCh38]
Chr7:4820831 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.1596-5C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002983000] Chr7:4788835 [GRCh38]
Chr7:4828466 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.62T>G (p.Leu21Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002890999] Chr7:4781195 [GRCh38]
Chr7:4820826 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2079dup (p.Pro694fs) duplication Hereditary spastic paraplegia 48 [RCV002710180] Chr7:4790812..4790813 [GRCh38]
Chr7:4830443..4830444 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2079_2091del (p.Cys693fs) deletion Hereditary spastic paraplegia 48 [RCV002891008] Chr7:4790805..4790817 [GRCh38]
Chr7:4830436..4830448 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.1161C>T (p.Ala387=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003064619] Chr7:4786278 [GRCh38]
Chr7:4825909 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1087T>C (p.Ser363Pro) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002720555] Chr7:4785639 [GRCh38]
Chr7:4825270 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.988C>G (p.Leu330Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002811568]|Inborn genetic diseases [RCV004064913] Chr7:4785540 [GRCh38]
Chr7:4825171 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1266C>T (p.Ser422=) single nucleotide variant AP5Z1-related disorder [RCV003943510]|Hereditary spastic paraplegia 48 [RCV002811572]|not provided [RCV003434511] Chr7:4786383 [GRCh38]
Chr7:4826014 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1117TTC[1] (p.Phe374del) microsatellite Hereditary spastic paraplegia 48 [RCV003065316] Chr7:4785668..4785670 [GRCh38]
Chr7:4825299..4825301 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.969+18A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV002938603] Chr7:4785470 [GRCh38]
Chr7:4825101 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1385C>T (p.Thr462Ile) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003092143] Chr7:4787707 [GRCh38]
Chr7:4827338 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1707+16G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002632425] Chr7:4788967 [GRCh38]
Chr7:4828598 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.621+11G>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV003048346] Chr7:4783809 [GRCh38]
Chr7:4823440 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1768C>T (p.Leu590Phe) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003063196]|Inborn genetic diseases [RCV004642121] Chr7:4789892 [GRCh38]
Chr7:4829523 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2066C>T (p.Ala689Val) single nucleotide variant Inborn genetic diseases [RCV002813160] Chr7:4790800 [GRCh38]
Chr7:4830431 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2379G>A (p.Thr793=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002599642] Chr7:4791340 [GRCh38]
Chr7:4830971 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2010C>T (p.Phe670=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002899856] Chr7:4790744 [GRCh38]
Chr7:4830375 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1805+20C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV003065178] Chr7:4789949 [GRCh38]
Chr7:4829580 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2198C>T (p.Pro733Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002629355] Chr7:4791159 [GRCh38]
Chr7:4830790 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.41+8_41+9del deletion Hereditary spastic paraplegia 48 [RCV003060304] Chr7:4775761..4775762 [GRCh38]
Chr7:4815392..4815393 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.180-19C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002770709] Chr7:4781549 [GRCh38]
Chr7:4821180 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.180-16G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002598716] Chr7:4781552 [GRCh38]
Chr7:4821183 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2033T>A (p.Leu678Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003009215] Chr7:4790767 [GRCh38]
Chr7:4830398 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.317C>T (p.Thr106Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003062478] Chr7:4781705 [GRCh38]
Chr7:4821336 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1201T>C (p.Phe401Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003088522] Chr7:4786318 [GRCh38]
Chr7:4825949 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1839G>T (p.Thr613=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002806455] Chr7:4790492 [GRCh38]
Chr7:4830123 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.283C>T (p.Pro95Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002770610]|Inborn genetic diseases [RCV002770609]|not provided [RCV004721086] Chr7:4781671 [GRCh38]
Chr7:4821302 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1938+9G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV003061123] Chr7:4790600 [GRCh38]
Chr7:4830231 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2239A>C (p.Ile747Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002937115] Chr7:4791200 [GRCh38]
Chr7:4830831 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1686A>G (p.Ala562=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002900219] Chr7:4788930 [GRCh38]
Chr7:4828561 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.936C>G (p.Ala312=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002632063] Chr7:4785419 [GRCh38]
Chr7:4825050 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.847G>T (p.Ala283Ser) single nucleotide variant Inborn genetic diseases [RCV002936082] Chr7:4784964 [GRCh38]
Chr7:4824595 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1954G>A (p.Glu652Lys) single nucleotide variant Inborn genetic diseases [RCV002719433] Chr7:4790688 [GRCh38]
Chr7:4830319 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2145G>T (p.Leu715=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002833520] Chr7:4790879 [GRCh38]
Chr7:4830510 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1805+4G>A single nucleotide variant Inborn genetic diseases [RCV002714242] Chr7:4789933 [GRCh38]
Chr7:4829564 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1433C>T (p.Ala478Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002628602] Chr7:4787755 [GRCh38]
Chr7:4827386 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1708-6C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV003090877] Chr7:4789826 [GRCh38]
Chr7:4829457 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2241C>G (p.Ile747Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002959142] Chr7:4791202 [GRCh38]
Chr7:4830833 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2222AGG[1] (p.Glu742del) microsatellite Hereditary spastic paraplegia 48 [RCV002810283] Chr7:4791182..4791184 [GRCh38]
Chr7:4830813..4830815 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.158C>T (p.Ser53Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002988616] Chr7:4781291 [GRCh38]
Chr7:4820922 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1311+17C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV002877414] Chr7:4786445 [GRCh38]
Chr7:4826076 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1897G>A (p.Val633Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003091314]|Inborn genetic diseases [RCV003091315] Chr7:4790550 [GRCh38]
Chr7:4830181 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1034G>A (p.Arg345Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002937611] Chr7:4785586 [GRCh38]
Chr7:4825217 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1707+11_1707+12delinsCC indel Hereditary spastic paraplegia 48 [RCV002599284] Chr7:4788962..4788963 [GRCh38]
Chr7:4828593..4828594 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.896_902dup (p.Cys301Ter) duplication Hereditary spastic paraplegia 48 [RCV002812154] Chr7:4785011..4785012 [GRCh38]
Chr7:4824642..4824643 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.2037C>G (p.Phe679Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003060661] Chr7:4790771 [GRCh38]
Chr7:4830402 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.368G>C (p.Gly123Ala) single nucleotide variant Inborn genetic diseases [RCV002921756] Chr7:4783317 [GRCh38]
Chr7:4822948 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2145G>A (p.Leu715=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002629086] Chr7:4790879 [GRCh38]
Chr7:4830510 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2214G>A (p.Thr738=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003090049] Chr7:4791175 [GRCh38]
Chr7:4830806 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.682A>G (p.Ser228Gly) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002629110] Chr7:4784263 [GRCh38]
Chr7:4823894 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1595+5G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002900631] Chr7:4788299 [GRCh38]
Chr7:4827930 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.825G>A (p.Ser275=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002966977] Chr7:4784942 [GRCh38]
Chr7:4824573 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1020G>A (p.Pro340=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003064921] Chr7:4785572 [GRCh38]
Chr7:4825203 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.362C>T (p.Ala121Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002602693]|Inborn genetic diseases [RCV004068791] Chr7:4781750 [GRCh38]
Chr7:4821381 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1576G>A (p.Ala526Thr) single nucleotide variant Inborn genetic diseases [RCV002670433] Chr7:4788275 [GRCh38]
Chr7:4827906 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1391T>C (p.Leu464Pro) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003028080] Chr7:4787713 [GRCh38]
Chr7:4827344 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1596-12_1596-11del deletion Hereditary spastic paraplegia 48 [RCV002580795] Chr7:4788828..4788829 [GRCh38]
Chr7:4828459..4828460 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.526C>G (p.Leu176Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002628654] Chr7:4783703 [GRCh38]
Chr7:4823334 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2243G>A (p.Arg748His) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002937522] Chr7:4791204 [GRCh38]
Chr7:4830835 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.416C>T (p.Ala139Val) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002962978]|Inborn genetic diseases [RCV002962979] Chr7:4783365 [GRCh38]
Chr7:4822996 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_014855.3(AP5Z1):c.1828G>A (p.Ala610Thr) single nucleotide variant Inborn genetic diseases [RCV002965160] Chr7:4790481 [GRCh38]
Chr7:4830112 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1596-19G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002605138] Chr7:4788821 [GRCh38]
Chr7:4828452 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1650C>G (p.Ala550=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002676832] Chr7:4788894 [GRCh38]
Chr7:4828525 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1707+5G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV003052250] Chr7:4788956 [GRCh38]
Chr7:4828587 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2396A>G (p.Glu799Gly) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002582404] Chr7:4791357 [GRCh38]
Chr7:4830988 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1920G>T (p.Ala640=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003068883] Chr7:4790573 [GRCh38]
Chr7:4830204 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.596T>G (p.Phe199Cys) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003069496]|Inborn genetic diseases [RCV003349016] Chr7:4783773 [GRCh38]
Chr7:4823404 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1708-19T>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV002942809] Chr7:4789813 [GRCh38]
Chr7:4829444 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1635C>T (p.Gly545=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003071470] Chr7:4788879 [GRCh38]
Chr7:4828510 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1661A>C (p.Gln554Pro) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002588928] Chr7:4788905 [GRCh38]
Chr7:4828536 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1455-5C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002635307] Chr7:4788149 [GRCh38]
Chr7:4827780 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1524C>A (p.Ala508=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003066443] Chr7:4788223 [GRCh38]
Chr7:4827854 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2154-18G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002607794] Chr7:4791097 [GRCh38]
Chr7:4830728 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1938+8G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV003032212] Chr7:4790599 [GRCh38]
Chr7:4830230 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.913A>C (p.Ile305Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002607143] Chr7:4785030 [GRCh38]
Chr7:4824661 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1403A>G (p.His468Arg) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002608985] Chr7:4787725 [GRCh38]
Chr7:4827356 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.630C>T (p.Pro210=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002943649] Chr7:4784211 [GRCh38]
Chr7:4823842 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.466G>A (p.Val156Ile) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002611217] Chr7:4783415 [GRCh38]
Chr7:4823046 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.970-1G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002654326] Chr7:4785521 [GRCh38]
Chr7:4825152 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.2301G>A (p.Val767=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002607837] Chr7:4791262 [GRCh38]
Chr7:4830893 [GRCh37]
Chr7:7p22.1		 benign
NM_014855.3(AP5Z1):c.863C>T (p.Pro288Leu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002604827] Chr7:4784980 [GRCh38]
Chr7:4824611 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2368_2373del (p.Ala790_Leu791del) deletion Hereditary spastic paraplegia 48 [RCV003068276] Chr7:4791324..4791329 [GRCh38]
Chr7:4830955..4830960 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2154-15A>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV002587249] Chr7:4791100 [GRCh38]
Chr7:4830731 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1168C>G (p.Gln390Glu) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003067142]|Inborn genetic diseases [RCV003269415] Chr7:4786285 [GRCh38]
Chr7:4825916 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1595+8G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV002589681] Chr7:4788302 [GRCh38]
Chr7:4827933 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1990G>A (p.Val664Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003068913] Chr7:4790724 [GRCh38]
Chr7:4830355 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.559G>A (p.Ala187Thr) single nucleotide variant Hereditary spastic paraplegia 48 [RCV002612499] Chr7:4783736 [GRCh38]
Chr7:4823367 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.778A>C (p.Thr260Pro) single nucleotide variant Inborn genetic diseases [RCV003256160] Chr7:4784359 [GRCh38]
Chr7:4823990 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2342G>A (p.Arg781His) single nucleotide variant Inborn genetic diseases [RCV003211920] Chr7:4791303 [GRCh38]
Chr7:4830934 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1772A>G (p.Tyr591Cys) single nucleotide variant not provided [RCV003221581] Chr7:4789896 [GRCh38]
Chr7:4829527 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2174dup (p.Met726fs) duplication not provided [RCV003221628] Chr7:4791132..4791133 [GRCh38]
Chr7:4830763..4830764 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.595T>G (p.Phe199Val) single nucleotide variant Inborn genetic diseases [RCV003342308] Chr7:4783772 [GRCh38]
Chr7:4823403 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1406C>A (p.Ala469Glu) single nucleotide variant Inborn genetic diseases [RCV003345369] Chr7:4787728 [GRCh38]
Chr7:4827359 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.607C>T (p.Pro203Ser) single nucleotide variant not provided [RCV003332625] Chr7:4783784 [GRCh38]
Chr7:4823415 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.383A>C (p.Glu128Ala) single nucleotide variant not provided [RCV003332626] Chr7:4783332 [GRCh38]
Chr7:4822963 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.180-3C>G single nucleotide variant not provided [RCV003332628] Chr7:4781565 [GRCh38]
Chr7:4821196 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1406C>T (p.Ala469Val) single nucleotide variant Inborn genetic diseases [RCV003347204]|not provided [RCV004593274] Chr7:4787728 [GRCh38]
Chr7:4827359 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1479G>T (p.Arg493Ser) single nucleotide variant Inborn genetic diseases [RCV003374755] Chr7:4788178 [GRCh38]
Chr7:4827809 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1954G>T (p.Glu652Ter) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003597546] Chr7:4790688 [GRCh38]
Chr7:4830319 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.2130C>A (p.Ser710=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003597547] Chr7:4790864 [GRCh38]
Chr7:4830495 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1939-6del deletion Hereditary spastic paraplegia 48 [RCV003874141] Chr7:4790665 [GRCh38]
Chr7:4830296 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1939-5C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV003874142] Chr7:4790668 [GRCh38]
Chr7:4830299 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3 copy number gain not provided [RCV003484666] Chr7:43361..5965440 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 copy number gain not provided [RCV003484665] Chr7:43361..8890475 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_014855.3(AP5Z1):c.553C>T (p.Arg185Cys) single nucleotide variant not provided [RCV003482857] Chr7:4783730 [GRCh38]
Chr7:4823361 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.420G>A (p.Leu140=) single nucleotide variant not provided [RCV003433734] Chr7:4783369 [GRCh38]
Chr7:4823000 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1767dup (p.Leu590fs) duplication not provided [RCV003482853] Chr7:4789890..4789891 [GRCh38]
Chr7:4829521..4829522 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.1938+7C>T single nucleotide variant AP5Z1-related disorder [RCV003429051] Chr7:4790598 [GRCh38]
Chr7:4830229 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2154-5C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598908] Chr7:4791110 [GRCh38]
Chr7:4830741 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1474G>C (p.Glu492Gln) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003599379] Chr7:4788173 [GRCh38]
Chr7:4827804 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1939-16_1939-15del microsatellite Hereditary spastic paraplegia 48 [RCV003597847] Chr7:4790654..4790655 [GRCh38]
Chr7:4830285..4830286 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.969+17C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV003597899] Chr7:4785469 [GRCh38]
Chr7:4825100 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2097C>T (p.Thr699=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003494937] Chr7:4790831 [GRCh38]
Chr7:4830462 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1926C>T (p.Leu642=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003496439] Chr7:4790579 [GRCh38]
Chr7:4830210 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2283T>G (p.Pro761=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598629] Chr7:4791244 [GRCh38]
Chr7:4830875 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.960G>C (p.Leu320=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598734] Chr7:4785443 [GRCh38]
Chr7:4825074 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1133-15dup duplication Hereditary spastic paraplegia 48 [RCV003496214] Chr7:4786232..4786233 [GRCh38]
Chr7:4825863..4825864 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1596-20C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598922] Chr7:4788820 [GRCh38]
Chr7:4828451 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2043C>T (p.Val681=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003597518] Chr7:4790777 [GRCh38]
Chr7:4830408 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.511+8G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV003599179] Chr7:4783468 [GRCh38]
Chr7:4823099 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.929G>C (p.Arg310Pro) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598526] Chr7:4785046 [GRCh38]
Chr7:4824677 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1124T>C (p.Leu375Pro) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003495442] Chr7:4785676 [GRCh38]
Chr7:4825307 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2253C>T (p.Ala751=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003597893] Chr7:4791214 [GRCh38]
Chr7:4830845 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.704del (p.Asp235fs) deletion Hereditary spastic paraplegia 48 [RCV003599790] Chr7:4784285 [GRCh38]
Chr7:4823916 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.1509_1595+26del deletion Hereditary spastic paraplegia 48 [RCV003599800] Chr7:4788206..4788318 [GRCh38]
Chr7:4827837..4827949 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.1091T>C (p.Val364Ala) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003486009] Chr7:4785643 [GRCh38]
Chr7:4825274 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2088G>A (p.Gln696=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003599861] Chr7:4790822 [GRCh38]
Chr7:4830453 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.931+15del deletion Hereditary spastic paraplegia 48 [RCV003598282] Chr7:4785061 [GRCh38]
Chr7:4824692 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1595+17C>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV003496234] Chr7:4788311 [GRCh38]
Chr7:4827942 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1020G>T (p.Pro340=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598565] Chr7:4785572 [GRCh38]
Chr7:4825203 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1455-15C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598686] Chr7:4788139 [GRCh38]
Chr7:4827770 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.438G>A (p.Glu146=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598924] Chr7:4783387 [GRCh38]
Chr7:4823018 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1806-1G>C single nucleotide variant Hereditary spastic paraplegia 48 [RCV003496538] Chr7:4790458 [GRCh38]
Chr7:4830089 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.480C>T (p.Val160=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598780] Chr7:4783429 [GRCh38]
Chr7:4823060 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1506C>A (p.Ala502=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003495798] Chr7:4788205 [GRCh38]
Chr7:4827836 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.970-13C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV003496487] Chr7:4785509 [GRCh38]
Chr7:4825140 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1260G>T (p.Leu420=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003599452] Chr7:4786377 [GRCh38]
Chr7:4826008 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2154-16G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV003876490] Chr7:4791099 [GRCh38]
Chr7:4830730 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1741C>T (p.Leu581=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003496148] Chr7:4789865 [GRCh38]
Chr7:4829496 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.791-6C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598895] Chr7:4784902 [GRCh38]
Chr7:4824533 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.932-12C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV003597833] Chr7:4785403 [GRCh38]
Chr7:4825034 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1088C>T (p.Ser363Phe) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598905] Chr7:4785640 [GRCh38]
Chr7:4825271 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1566G>A (p.Leu522=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003598223] Chr7:4788265 [GRCh38]
Chr7:4827896 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1301A>G (p.Asn434Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003495662] Chr7:4786418 [GRCh38]
Chr7:4826049 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.495G>A (p.Pro165=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003496807] Chr7:4783444 [GRCh38]
Chr7:4823075 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1938+18C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV003497179] Chr7:4790609 [GRCh38]
Chr7:4830240 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.366+19C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV003497108] Chr7:4781773 [GRCh38]
Chr7:4821404 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.615C>T (p.Ala205=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003497143] Chr7:4783792 [GRCh38]
Chr7:4823423 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1805+8C>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV003497149] Chr7:4789937 [GRCh38]
Chr7:4829568 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2079del (p.Gln696fs) deletion Hereditary spastic paraplegia 48 [RCV003854531] Chr7:4790813 [GRCh38]
Chr7:4830444 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_014855.3(AP5Z1):c.873G>A (p.Glu291=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003497210] Chr7:4784990 [GRCh38]
Chr7:4824621 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2268C>T (p.Thr756=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003497253] Chr7:4791229 [GRCh38]
Chr7:4830860 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2391G>A (p.Leu797=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003496864] Chr7:4791352 [GRCh38]
Chr7:4830983 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2406C>T (p.Ala802=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003496882] Chr7:4791367 [GRCh38]
Chr7:4830998 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1938+12G>A single nucleotide variant Hereditary spastic paraplegia 48 [RCV003496723] Chr7:4790603 [GRCh38]
Chr7:4830234 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.932-19C>T single nucleotide variant Hereditary spastic paraplegia 48 [RCV003497301] Chr7:4785396 [GRCh38]
Chr7:4825027 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.822G>C (p.Leu274=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003497089] Chr7:4784939 [GRCh38]
Chr7:4824570 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.927C>T (p.Asn309=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003497030] Chr7:4785044 [GRCh38]
Chr7:4824675 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1137A>G (p.Glu379=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003810912] Chr7:4786254 [GRCh38]
Chr7:4825885 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.970-2A>G single nucleotide variant Hereditary spastic paraplegia 48 [RCV003838478] Chr7:4785520 [GRCh38]
Chr7:4825151 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.1893C>T (p.Gly631=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003862790] Chr7:4790546 [GRCh38]
Chr7:4830177 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.80G>T (p.Arg27Leu) single nucleotide variant Inborn genetic diseases [RCV004417431] Chr7:4781213 [GRCh38]
Chr7:4820844 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.33C>T (p.His11=) single nucleotide variant AP5Z1-related disorder [RCV003951667] Chr7:4775748 [GRCh38]
Chr7:4815379 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1588A>C (p.Thr530Pro) single nucleotide variant Inborn genetic diseases [RCV004417423] Chr7:4788287 [GRCh38]
Chr7:4827918 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2333G>A (p.Arg778His) single nucleotide variant Inborn genetic diseases [RCV004417427] Chr7:4791294 [GRCh38]
Chr7:4830925 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.631G>C (p.Val211Leu) single nucleotide variant Inborn genetic diseases [RCV004417430] Chr7:4784212 [GRCh38]
Chr7:4823843 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.498C>T (p.Gly166=) single nucleotide variant AP5Z1-related disorder [RCV003909848] Chr7:4783447 [GRCh38]
Chr7:4823078 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.591C>T (p.Gly197=) single nucleotide variant AP5Z1-related disorder [RCV003977139] Chr7:4783768 [GRCh38]
Chr7:4823399 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1093C>T (p.Arg365Trp) single nucleotide variant Inborn genetic diseases [RCV004417418] Chr7:4785645 [GRCh38]
Chr7:4825276 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1154C>T (p.Ser385Leu) single nucleotide variant Inborn genetic diseases [RCV004417419] Chr7:4786271 [GRCh38]
Chr7:4825902 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1381G>A (p.Gly461Ser) single nucleotide variant Inborn genetic diseases [RCV004417420] Chr7:4787703 [GRCh38]
Chr7:4827334 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1406C>G (p.Ala469Gly) single nucleotide variant Inborn genetic diseases [RCV004417421] Chr7:4787728 [GRCh38]
Chr7:4827359 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1542C>A (p.Phe514Leu) single nucleotide variant Inborn genetic diseases [RCV004417422] Chr7:4788241 [GRCh38]
Chr7:4827872 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2266A>T (p.Thr756Ser) single nucleotide variant Inborn genetic diseases [RCV004417426] Chr7:4791227 [GRCh38]
Chr7:4830858 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.875G>A (p.Arg292Gln) single nucleotide variant Inborn genetic diseases [RCV004417433] Chr7:4784992 [GRCh38]
Chr7:4824623 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.925A>C (p.Asn309His) single nucleotide variant Inborn genetic diseases [RCV004417434] Chr7:4785042 [GRCh38]
Chr7:4824673 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1590T>G (p.Thr530=) single nucleotide variant AP5Z1-related disorder [RCV003981745] Chr7:4788289 [GRCh38]
Chr7:4827920 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.2122C>A (p.Leu708Met) single nucleotide variant Hereditary spastic paraplegia 48 [RCV003990647] Chr7:4790856 [GRCh38]
Chr7:4830487 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1239C>T (p.Phe413=) single nucleotide variant not provided [RCV003887656] Chr7:4786356 [GRCh38]
Chr7:4825987 [GRCh37]
Chr7:7p22.1		 likely benign
NM_014855.3(AP5Z1):c.1036A>C (p.Ser346Arg) single nucleotide variant Inborn genetic diseases [RCV004417417] Chr7:4785588 [GRCh38]
Chr7:4825219 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.83T>A (p.Ile28Asn) single nucleotide variant Inborn genetic diseases [RCV004417432] Chr7:4781216 [GRCh38]
Chr7:4820847 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.2419G>C (p.Gly807Arg) single nucleotide variant Inborn genetic diseases [RCV004417428] Chr7:4791380 [GRCh38]
Chr7:4831011 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.502del (p.Leu168fs) deletion Hereditary spastic paraplegia 48 [RCV004547247] Chr7:4783449 [GRCh38]
Chr7:4823080 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.2064_2079del (p.Ala689fs) deletion not provided [RCV004698153] Chr7:4790798..4790813 [GRCh38]
Chr7:4830429..4830444 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NC_000007.13:g.(?_4815347)_(5792630_?)del deletion Baraitser-Winter syndrome 1 [RCV004583510] Chr7:4815347..5792630 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.1822T>A (p.Phe608Ile) single nucleotide variant Inborn genetic diseases [RCV004652637] Chr7:4790475 [GRCh38]
Chr7:4830106 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.697A>G (p.Thr233Ala) single nucleotide variant not provided [RCV004770476] Chr7:4784278 [GRCh38]
Chr7:4823909 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.878T>A (p.Leu293His) single nucleotide variant not provided [RCV004770477] Chr7:4784995 [GRCh38]
Chr7:4824626 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_014855.3(AP5Z1):c.41+780_971del deletion not provided [RCV004722382] Chr7:4776534..4785521 [GRCh38]
Chr7:4816165..4825152 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.1349T>C (p.Phe450Ser) single nucleotide variant Hereditary spastic paraplegia 48 [RCV004767611] Chr7:4787671 [GRCh38]
Chr7:4827302 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_014855.3(AP5Z1):c.630C>G (p.Pro210=) single nucleotide variant Hereditary spastic paraplegia 48 [RCV004767612] Chr7:4784211 [GRCh38]
Chr7:4823842 [GRCh37]
Chr7:7p22.1		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2520
Count of miRNA genes:852
Interacting mature miRNAs:1018
Transcripts:ENST00000348624, ENST00000401897, ENST00000469614, ENST00000477454, ENST00000477680, ENST00000490487, ENST00000491375, ENST00000496303
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
1643402BMD2_HBone mineral density QTL 2 (human)2.690.0002Bone mineral density7122435431Human
1643247BW130_HBody Weight QTL 130 (human)1.280.008Body weightbody mass index7117453493Human
1643391BW322_HBody weight QTL 322 (human)2.690.0002Body fat amount7122435431Human
406885734GWAS534710_Hperipheral arterial disease, traffic air pollution measurement QTL GWAS534710 (human)0.000009peripheral arterial disease, traffic air pollution measurement747925674792568Human
406956186GWAS605162_Hrestless legs syndrome QTL GWAS605162 (human)9e-09restless legs syndrome747828974782898Human
407137146GWAS786122_Hinterleukin-6 measurement, response to stimulus QTL GWAS786122 (human)0.0000005interleukin-6 measurement, response to stimulusblood interleukin-6 level (CMO:0001926)747832564783257Human

Markers in Region
RH48634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3774,815,303 - 4,815,438UniSTSGRCh37
Build 3674,781,829 - 4,781,964RGDNCBI36
Celera74,774,954 - 4,775,089RGD
Cytogenetic Map7p22.2UniSTS
HuRef74,732,114 - 4,732,249UniSTS
CRA_TCAGchr7v274,861,658 - 4,861,793UniSTS
GeneMap99-GB4 RH Map732.79UniSTS
NCBI RH Map788.2UniSTS


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 1949 465 2270 7304 6470 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_157345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI927641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI766915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ228738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD671081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY145300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000469614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,788,226 - 4,791,750 (+)Ensembl
Ensembl Acc Id: ENST00000477454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,786,375 - 4,789,039 (+)Ensembl
Ensembl Acc Id: ENST00000477680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,775,633 - 4,791,752 (+)Ensembl
Ensembl Acc Id: ENST00000490487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,789,837 - 4,791,727 (+)Ensembl
Ensembl Acc Id: ENST00000491375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,783,323 - 4,785,048 (+)Ensembl
Ensembl Acc Id: ENST00000496303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,781,613 - 4,791,744 (+)Ensembl
Ensembl Acc Id: ENST00000647628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,783,459 - 4,786,653 (+)Ensembl
Ensembl Acc Id: ENST00000647984   ⟹   ENSP00000497794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,775,615 - 4,791,714 (+)Ensembl
Ensembl Acc Id: ENST00000648237   ⟹   ENSP00000497377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,789,837 - 4,791,727 (+)Ensembl
Ensembl Acc Id: ENST00000648360   ⟹   ENSP00000498142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,787,713 - 4,791,734 (+)Ensembl
Ensembl Acc Id: ENST00000648765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,785,795 - 4,787,856 (+)Ensembl
Ensembl Acc Id: ENST00000648925   ⟹   ENSP00000496830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,775,652 - 4,794,395 (+)Ensembl
Ensembl Acc Id: ENST00000649063   ⟹   ENSP00000497815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,775,623 - 4,794,397 (+)Ensembl
Ensembl Acc Id: ENST00000649315   ⟹   ENSP00000497144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,784,908 - 4,790,886 (+)Ensembl
Ensembl Acc Id: ENST00000649419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,784,911 - 4,791,518 (+)Ensembl
Ensembl Acc Id: ENST00000649736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,787,837 - 4,791,597 (+)Ensembl
Ensembl Acc Id: ENST00000650310   ⟹   ENSP00000497395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,775,638 - 4,791,714 (+)Ensembl
Ensembl Acc Id: ENST00000650451   ⟹   ENSP00000496998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,775,634 - 4,784,942 (+)Ensembl
Ensembl Acc Id: ENST00000650581   ⟹   ENSP00000497156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,786,316 - 4,791,728 (+)Ensembl
RefSeq Acc Id: NM_001364858   ⟹   NP_001351787
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3874,775,623 - 4,794,397 (+)NCBI
T2T-CHM13v2.074,892,837 - 4,911,604 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014855   ⟹   NP_055670
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3874,775,623 - 4,794,397 (+)NCBI
GRCh3774,815,262 - 4,834,026 (+)ENTREZGENE
Build 3674,781,790 - 4,797,925 (+)NCBI Archive
Celera74,774,915 - 4,791,050 (+)RGD
HuRef74,732,073 - 4,750,836 (+)ENTREZGENE
CHM1_174,815,007 - 4,833,771 (+)NCBI
T2T-CHM13v2.074,892,837 - 4,911,604 (+)NCBI
CRA_TCAGchr7v274,861,617 - 4,880,381 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_157345
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3874,775,623 - 4,794,397 (+)NCBI
T2T-CHM13v2.074,892,837 - 4,911,604 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047421098   ⟹   XP_047277054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3874,782,802 - 4,794,397 (+)NCBI
RefSeq Acc Id: XM_054359453   ⟹   XP_054215428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.074,900,009 - 4,911,604 (+)NCBI
RefSeq Acc Id: NP_055670   ⟸   NM_014855
- Peptide Label: isoform 1
- UniProtKB: Q8N3X2 (UniProtKB/Swiss-Prot),   Q96H80 (UniProtKB/Swiss-Prot),   O43299 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001351787   ⟸   NM_001364858
- Peptide Label: isoform 2
Ensembl Acc Id: ENSP00000497377   ⟸   ENST00000648237
Ensembl Acc Id: ENSP00000498142   ⟸   ENST00000648360
Ensembl Acc Id: ENSP00000496830   ⟸   ENST00000648925
Ensembl Acc Id: ENSP00000497144   ⟸   ENST00000649315
Ensembl Acc Id: ENSP00000497815   ⟸   ENST00000649063
Ensembl Acc Id: ENSP00000496998   ⟸   ENST00000650451
Ensembl Acc Id: ENSP00000497395   ⟸   ENST00000650310
Ensembl Acc Id: ENSP00000497156   ⟸   ENST00000650581
Ensembl Acc Id: ENSP00000497794   ⟸   ENST00000647984
RefSeq Acc Id: XP_047277054   ⟸   XM_047421098
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054215428   ⟸   XM_054359453
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43299-F1-model_v2 AlphaFold O43299 1-807 view protein structure

Promoters
RGD ID:6805182
Promoter ID:HG_KWN:56104
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:ENST00000401897,   OTTHUMT00000323771,   OTTHUMT00000323772,   OTTHUMT00000323776,   UC010KSP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3674,781,436 - 4,781,936 (+)MPROMDB
RGD ID:6805848
Promoter ID:HG_KWN:56107
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid
Transcripts:UC003SNF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3674,793,901 - 4,795,082 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22197 AgrOrtholog
COSMIC AP5Z1 COSMIC
Ensembl Genes ENSG00000242802 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000647984.1 UniProtKB/TrEMBL
  ENST00000648237.1 UniProtKB/TrEMBL
  ENST00000648360.1 UniProtKB/TrEMBL
  ENST00000648925 ENTREZGENE
  ENST00000648925.1 UniProtKB/Swiss-Prot
  ENST00000649063 ENTREZGENE
  ENST00000649063.2 UniProtKB/Swiss-Prot
  ENST00000649315.1 UniProtKB/TrEMBL
  ENST00000650310.1 UniProtKB/TrEMBL
  ENST00000650451.1 UniProtKB/TrEMBL
  ENST00000650581.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000242802 GTEx
HGNC ID HGNC:22197 ENTREZGENE
Human Proteome Map AP5Z1 Human Proteome Map
InterPro AP5Z1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-like UniProtKB/Swiss-Prot
KEGG Report hsa:9907 UniProtKB/Swiss-Prot
NCBI Gene 9907 ENTREZGENE
OMIM 613653 OMIM
PANTHER AP-5 COMPLEX SUBUNIT ZETA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46488 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SPG48 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162392841 PharmGKB
UniProt A0A3B3IRY2_HUMAN UniProtKB/TrEMBL
  A0A3B3IRY4_HUMAN UniProtKB/TrEMBL
  A0A3B3IS81_HUMAN UniProtKB/TrEMBL
  A0A3B3ISJ0_HUMAN UniProtKB/TrEMBL
  A0A3B3ISN8_HUMAN UniProtKB/TrEMBL
  A0A3B3ITJ1_HUMAN UniProtKB/TrEMBL
  A0A3B3IU94_HUMAN UniProtKB/TrEMBL
  AP5Z1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8N3X2 ENTREZGENE
  Q96H80 ENTREZGENE
UniProt Secondary Q8N3X2 UniProtKB/Swiss-Prot
  Q96H80 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 AP5Z1  adaptor related protein complex 5 subunit zeta 1  AP5Z1  adaptor related protein complex 5 zeta 1 subunit  Symbol and/or name change 5135510 APPROVED
2016-02-02 AP5Z1  adaptor related protein complex 5 zeta 1 subunit  AP5Z1  adaptor related protein complex 5, zeta 1 subunit  Symbol and/or name change 5135510 APPROVED
2015-12-22 AP5Z1  adaptor related protein complex 5, zeta 1 subunit  AP5Z1  adaptor-related protein complex 5, zeta 1 subunit  Symbol and/or name change 5135510 APPROVED
2012-03-27 AP5Z1  adaptor-related protein complex 5, zeta 1 subunit  KIAA0415  KIAA0415  Symbol and/or name change 5135510 APPROVED