PEX12 (peroxisomal biogenesis factor 12) - Rat Genome Database

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Gene: PEX12 (peroxisomal biogenesis factor 12) Homo sapiens
Analyze
Symbol: PEX12
Name: peroxisomal biogenesis factor 12
RGD ID: 731687
HGNC Page HGNC:8854
Description: Enables ubiquitin ligase activator activity and zinc ion binding activity. Involved in cellular response to reactive oxygen species; protein import into peroxisome matrix, receptor recycling; and protein polyubiquitination. Located in peroxisome. Is active in peroxisomal membrane. Implicated in peroxisome biogenesis disorder 3A and peroxisome biogenesis disorder 3B.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PAF-3; PBD3A; peroxin 12; peroxin-12; peroxisome assembly factor 3; peroxisome assembly protein 12
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PEX12P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381735,574,795 - 35,578,571 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1735,574,795 - 35,578,863 (-)EnsemblGRCh38hg38GRCh38
GRCh371733,901,814 - 33,905,590 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361730,925,928 - 30,929,687 (-)NCBINCBI36Build 36hg18NCBI36
Build 341730,925,927 - 30,929,687NCBI
Celera1730,811,949 - 30,815,791 (-)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1730,086,798 - 30,090,636 (-)NCBIHuRef
CHM1_11733,966,472 - 33,970,314 (-)NCBICHM1_1
T2T-CHM13v2.01736,522,734 - 36,526,512 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (TAS)
membrane  (IEA)
peroxisomal importomer complex  (IBA)
peroxisomal membrane  (HDA,IBA,IDA,IEA,ISO,TAS)
peroxisome  (IDA,IEA,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal chorioretinal morphology  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal light-adapted flicker electroretinogram  (IAGP)
Abnormal palate morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormality of coagulation  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of movement  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the tongue  (IAGP)
Anteverted nares  (IAGP)
Areflexia  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Brushfield spots  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Clitoral hypertrophy  (IAGP)
Cognitive impairment  (IAGP)
Congenital onset  (IAGP)
Constriction of peripheral visual field  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Death in infancy  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Developmental regression  (IAGP)
Dolichocephaly  (IAGP)
Dysarthria  (IAGP)
EEG abnormality  (IAGP)
Elevated circulating phytanic acid concentration  (IAGP)
Elevated CSF guanidinoacetic acid concentration  (IAGP)
Elevated urine trihydroxycholestanoic acid level  (IAGP)
Epicanthus  (IAGP)
Epiphyseal stippling  (IAGP)
Esodeviation  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flat face  (IAGP)
Flat occiput  (IAGP)
Generalized hypotonia  (IAGP)
Generalized neonatal hypotonia  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hydronephrosis  (IAGP)
Hyperreflexia  (IAGP)
Hypocholesterolemia  (IAGP)
Hyporeflexia  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Increased circulating very long-chain fatty acid concentration  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Jaundice  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Malabsorption  (IAGP)
Malar flattening  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Osteoporosis  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Polymicrogyria  (IAGP)
Polyneuropathy  (IAGP)
Poor suck  (IAGP)
Posterior embryotoxon  (IAGP)
Posteriorly rotated ears  (IAGP)
Premature birth  (IAGP)
Primary adrenal insufficiency  (IAGP)
Profound global developmental delay  (IAGP)
Progressive muscle weakness  (IAGP)
Ptosis  (IAGP)
Pyloric stenosis  (IAGP)
Reduced tendon reflexes  (IAGP)
Respiratory insufficiency  (IAGP)
Retinal dystrophy  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Severe muscular hypotonia  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Skeletal dysplasia  (IAGP)
Spasticity  (IAGP)
Steatorrhea  (IAGP)
Strabismus  (IAGP)
Thickened nuchal skin fold  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Upslanted palpebral fissure  (IAGP)
Vascular dilatation  (IAGP)
Ventricular septal defect  (IAGP)
Very long chain fatty acid accumulation  (IAGP)
Visual impairment  (IAGP)
Wide anterior fontanel  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p. Okumoto K, etal., Mol Cell Biol 1998 Jul;18(7):4324-36.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9090384   PMID:9354782   PMID:9792670   PMID:9792857   PMID:9922452   PMID:10562279   PMID:10704444   PMID:10837480   PMID:11390669   PMID:12096124   PMID:12456682   PMID:12477932  
PMID:12751901   PMID:14571262   PMID:15241794   PMID:15489334   PMID:16344560   PMID:16813573   PMID:17534573   PMID:19105186   PMID:20301621   PMID:21525035   PMID:21873635   PMID:22002062  
PMID:24501781   PMID:24662292   PMID:26344566   PMID:28986522   PMID:29180619   PMID:30378028   PMID:32296183   PMID:33123925   PMID:33961781   PMID:34079125   PMID:35768507  


Genomics

Comparative Map Data
PEX12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381735,574,795 - 35,578,571 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1735,574,795 - 35,578,863 (-)EnsemblGRCh38hg38GRCh38
GRCh371733,901,814 - 33,905,590 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361730,925,928 - 30,929,687 (-)NCBINCBI36Build 36hg18NCBI36
Build 341730,925,927 - 30,929,687NCBI
Celera1730,811,949 - 30,815,791 (-)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1730,086,798 - 30,090,636 (-)NCBIHuRef
CHM1_11733,966,472 - 33,970,314 (-)NCBICHM1_1
T2T-CHM13v2.01736,522,734 - 36,526,512 (-)NCBIT2T-CHM13v2.0
Pex12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391183,182,757 - 83,189,849 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1183,185,468 - 83,193,412 (-)EnsemblGRCm39 Ensembl
GRCm381183,295,072 - 83,299,005 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1183,294,642 - 83,302,586 (-)EnsemblGRCm38mm10GRCm38
MGSCv371183,108,147 - 83,112,479 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361183,110,840 - 83,115,172 (-)NCBIMGSCv36mm8
Celera1192,886,804 - 92,891,135 (-)NCBICelera
Cytogenetic Map11CNCBI
cM Map1150.3NCBI
Pex12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81068,593,307 - 68,596,938 (-)NCBIGRCr8
mRatBN7.21068,095,776 - 68,103,812 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1068,095,776 - 68,099,428 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1072,715,803 - 72,719,433 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01072,221,190 - 72,224,820 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01067,685,234 - 67,688,864 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01070,512,785 - 70,516,494 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1070,512,790 - 70,516,421 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01070,146,617 - 70,150,248 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41071,378,818 - 71,382,448 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1067,038,385 - 67,042,015 (-)NCBICelera
Cytogenetic Map10q26NCBI
Pex12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495548110,057,494 - 10,063,935 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495548110,057,494 - 10,060,492 (-)NCBIChiLan1.0ChiLan1.0
PEX12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21928,898,300 - 28,902,961 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11730,777,263 - 30,781,925 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01721,216,181 - 21,221,107 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11721,510,296 - 21,514,310 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1721,510,286 - 21,514,310 (+)Ensemblpanpan1.1panPan2
PEX12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1938,083,895 - 38,088,192 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl938,084,285 - 38,087,011 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha937,308,233 - 37,312,231 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0938,895,855 - 38,899,853 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl938,895,826 - 38,899,846 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1937,679,858 - 37,683,856 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0937,964,168 - 37,968,166 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0938,051,615 - 38,055,613 (+)NCBIUU_Cfam_GSD_1.0
Pex12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560237,069,927 - 37,073,042 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364901,527 - 5,069 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364901,751 - 5,094 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PEX12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1239,932,010 - 39,936,268 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11239,931,680 - 39,936,632 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21241,443,455 - 41,447,645 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PEX12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11629,049,206 - 29,054,718 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666075922,468 - 926,100 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pex12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248753,082,505 - 3,085,540 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248753,081,581 - 3,085,441 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PEX12
413 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001378080]|Peroxisome biogenesis disorder type 3B [RCV000674819]|not provided [RCV000520537] Chr17:35575853 [GRCh38]
Chr17:33902872 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic|uncertain significance
PEX12, 4-BP INS, 733GCCT insertion Peroxisome biogenesis disorder 3A [RCV000008212] Chr17 pathogenic
PEX12, 1-BP INS, 744T insertion Peroxisome biogenesis disorder 3A [RCV000008213] Chr17 pathogenic
PEX12, 4-BP DEL, 684TAGT deletion Peroxisome biogenesis disorder 3A [RCV000008214] Chr17 pathogenic
NM_000286.3(PEX12):c.691A>T (p.Lys231Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000008215] Chr17:35576171 [GRCh38]
Chr17:33903190 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) single nucleotide variant Peroxisomal biogenesis disorder 3b [RCV000032926]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000008216]|Peroxisome biogenesis disorder [RCV001193474]|Peroxisome biogenesis disorder type 3B [RCV000666018] Chr17:35577180 [GRCh38]
Chr17:33904199 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) single nucleotide variant Peroxisomal biogenesis disorder 3b [RCV000008217]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000625796]|Peroxisome biogenesis disorder [RCV002281700]|not provided [RCV000415755] Chr17:35575903 [GRCh38]
Chr17:33902922 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000286.3(PEX12):c.26_27del (p.Thr9fs) microsatellite Peroxisomal biogenesis disorder 3b [RCV000008218] Chr17:35577995..35577996 [GRCh38]
Chr17:33905014..33905015 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.273A>T (p.Arg91Ser) single nucleotide variant Peroxisomal biogenesis disorder 3b [RCV000008220] Chr17:35577445 [GRCh38]
Chr17:33904464 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe) single nucleotide variant Peroxisomal biogenesis disorder 3b [RCV000008221]|Peroxisome biogenesis disorder type 3B [RCV000675048] Chr17:35575913 [GRCh38]
Chr17:33902932 [GRCh37]
Chr17:17q12		 pathogenic|uncertain significance
NM_000286.3(PEX12):c.811G>A (p.Glu271Lys) single nucleotide variant not provided [RCV000728287] Chr17:35576051 [GRCh38]
Chr17:33903070 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.535del (p.Leu179fs) deletion not provided [RCV000723018] Chr17:35577183 [GRCh38]
Chr17:33904202 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.441C>T (p.Pro147=) single nucleotide variant not provided [RCV000727989] Chr17:35577277 [GRCh38]
Chr17:33904296 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.676A>G (p.Arg226Gly) single nucleotide variant not provided [RCV000729373] Chr17:35577042 [GRCh38]
Chr17:33904061 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.655A>G (p.Ser219Gly) single nucleotide variant Inborn genetic diseases [RCV004649300]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002533104]|not provided [RCV000729380] Chr17:35577063 [GRCh38]
Chr17:33904082 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del) microsatellite Peroxisome biogenesis disorder 3A (Zellweger) [RCV000662038]|Peroxisome biogenesis disorder [RCV000662039]|Peroxisome biogenesis disorder type 3B [RCV000671429] Chr17:35577512..35577514 [GRCh38]
Chr17:33904531..33904533 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) single nucleotide variant PEX12-related disorder [RCV004549498]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001082581]|Peroxisome biogenesis disorder type 3B [RCV000989844]|Peroxisome biogenesis disorder type 3B [RCV002498379]|not provided [RCV000514867]|not specified [RCV000078560] Chr17:35577920 [GRCh38]
Chr17:33904939 [GRCh37]
Chr17:17q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) single nucleotide variant Inborn genetic diseases [RCV002515755]|PEX12-related disorder [RCV004549499]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000970690]|not provided [RCV001729380]|not specified [RCV000078561] Chr17:35577267 [GRCh38]
Chr17:33904286 [GRCh37]
Chr17:17q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000286.3(PEX12):c.681-3_681-2del deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001083380]|not provided [RCV000676167]|not specified [RCV000078562] Chr17:35576183..35576184 [GRCh38]
Chr17:33903202..33903203 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) microsatellite Inborn genetic diseases [RCV002514382]|PEX12-related disorder [RCV004739344]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000412263]|Peroxisome biogenesis disorder [RCV000586945]|Peroxisome biogenesis disorder type 3B [RCV000410739]|Peroxisome biogenesis disorder type 3B [RCV002477223]|not provided [RCV000078563] Chr17:35575973..35575974 [GRCh38]
Chr17:33902992..33902993 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) deletion PEX12-related disorder [RCV004724797]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001854382]|Peroxisome biogenesis disorder type 3B [RCV000669619]|not provided [RCV000078564] Chr17:35575968 [GRCh38]
Chr17:33902987 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.616C>T (p.Gln206Ter) single nucleotide variant not provided [RCV000171253] Chr17:35577102 [GRCh38]
Chr17:33904121 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) single nucleotide variant PEX12-related disorder [RCV004552945]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000679868]|Peroxisome biogenesis disorder type 3B [RCV000675037]|not provided [RCV000171254] Chr17:35577384 [GRCh38]
Chr17:33904403 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic|no classifications from unflagged records
NM_000286.3(PEX12):c.608T>C (p.Leu203Pro) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001333350] Chr17:35577110 [GRCh38]
Chr17:33904129 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.669A>G (p.Gln223=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001493738] Chr17:35577049 [GRCh38]
Chr17:33904068 [GRCh37]
Chr17:17q12		 likely benign
GRCh38/hg38 17q12(chr17:35129859-35767049)x3 copy number gain See cases [RCV000136983] Chr17:35129859..35767049 [GRCh38]
Chr17:33456878..34094068 [GRCh37]
Chr17:30480991..31118181 [NCBI36]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.117T>G (p.His39Gln) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001850102]|not provided [RCV000153675] Chr17:35577905 [GRCh38]
Chr17:33904924 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.59T>C (p.Ile20Thr) single nucleotide variant not provided [RCV000153676] Chr17:35577963 [GRCh38]
Chr17:33904982 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.-26G>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002516088]|Peroxisome biogenesis disorder type 3B [RCV000666199]|not provided [RCV000153677] Chr17:35578047 [GRCh38]
Chr17:33905066 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.931C>T (p.Arg311Trp) single nucleotide variant Inborn genetic diseases [RCV002516722]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002516723]|not provided [RCV000177030] Chr17:35575931 [GRCh38]
Chr17:33902950 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.349A>G (p.Ile117Val) single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000260746]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002521897]|Peroxisome biogenesis disorder type 3B [RCV000667830]|not provided [RCV000379331] Chr17:35577369 [GRCh38]
Chr17:33904388 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) single nucleotide variant PEX12-related disorder [RCV004549596]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001083308]|not provided [RCV000287024] Chr17:35576140 [GRCh38]
Chr17:33903159 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001855532]|Peroxisome biogenesis disorder type 3B [RCV000670011] Chr17:35577496 [GRCh38]
Chr17:33904515 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.771del (p.Leu258fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653255]|Peroxisome biogenesis disorder type 3B [RCV000669146] Chr17:35576091 [GRCh38]
Chr17:33903110 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.1002G>A (p.Arg334=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001079135]|not provided [RCV000732703] Chr17:35575860 [GRCh38]
Chr17:33902879 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000286.3(PEX12):c.-147C>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000295884] Chr17:35578168 [GRCh38]
Chr17:33905187 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*880_*883del deletion Peroxisome biogenesis disorder 1A (Zellweger) [RCV000264131] Chr17:35574899..35574902 [GRCh38]
Chr17:33901918..33901921 [GRCh37]
Chr17:17q12		 benign
NM_000286.3(PEX12):c.*836G>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000321572]|not provided [RCV004709587] Chr17:35574946 [GRCh38]
Chr17:33901965 [GRCh37]
Chr17:17q12		 benign
NM_000286.3(PEX12):c.*335T>C single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000271524] Chr17:35575447 [GRCh38]
Chr17:33902466 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.51_54dup (p.Ser19fs) duplication not provided [RCV000295850] Chr17:35577967..35577968 [GRCh38]
Chr17:33904986..33904987 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.452G>A (p.Arg151His) single nucleotide variant Inborn genetic diseases [RCV002521937]|PEX12-related disorder [RCV004547702]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001080036]|not provided [RCV000275125] Chr17:35577266 [GRCh38]
Chr17:33904285 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000286.3(PEX12):c.763G>A (p.Val255Ile) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001850453]|not provided [RCV000343654] Chr17:35576099 [GRCh38]
Chr17:33903118 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*569T>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000280569] Chr17:35575213 [GRCh38]
Chr17:33902232 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.353T>C (p.Met118Thr) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000371870]|Peroxisome biogenesis disorder type 3B [RCV000672165] Chr17:35577365 [GRCh38]
Chr17:33904384 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.-138T>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000349593] Chr17:35578159 [GRCh38]
Chr17:33905178 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*569_*570del deletion Peroxisome biogenesis disorder 1A (Zellweger) [RCV000372610] Chr17:35575212..35575213 [GRCh38]
Chr17:33902231..33902232 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.*517A>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000350857]|not provided [RCV004709588] Chr17:35575265 [GRCh38]
Chr17:35575265..35575266 [GRCh38]
Chr17:33902284 [GRCh37]
Chr17:33902284..33902285 [GRCh37]
Chr17:17q12		 benign
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp) single nucleotide variant Inborn genetic diseases [RCV004021697]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000920088] Chr17:35577981 [GRCh38]
Chr17:33905000 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000286.3(PEX12):c.-427G>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000308785] Chr17:35578448 [GRCh38]
Chr17:33905467 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*297T>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000310307] Chr17:35575485 [GRCh38]
Chr17:33902504 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000286.3(PEX12):c.*636T>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000334272] Chr17:35575146 [GRCh38]
Chr17:33902165 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000286.3(PEX12):c.*166C>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000359262]|not provided [RCV001718674] Chr17:35575616 [GRCh38]
Chr17:33902635 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000286.3(PEX12):c.*550_*552del deletion Peroxisome biogenesis disorder 1A (Zellweger) [RCV000337909] Chr17:35575230..35575232 [GRCh38]
Chr17:33902249..33902251 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.-534C>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000360828]|not provided [RCV001683292] Chr17:35578555 [GRCh38]
Chr17:33905574 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000286.3(PEX12):c.-428T>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000347251]|not provided [RCV001653570] Chr17:35578449 [GRCh38]
Chr17:33905468 [GRCh37]
Chr17:17q12		 benign
NM_000286.3(PEX12):c.-434A>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000404260] Chr17:35578455 [GRCh38]
Chr17:33905474 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.-495C>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000303670] Chr17:35578516 [GRCh38]
Chr17:33905535 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.84T>C (p.Ser28=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001082684]|not provided [RCV000729344] Chr17:35577938 [GRCh38]
Chr17:33904957 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000286.3(PEX12):c.*380G>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000363712] Chr17:35575402 [GRCh38]
Chr17:33902421 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.422A>G (p.Asp141Gly) single nucleotide variant not provided [RCV000595021] Chr17:35577296 [GRCh38]
Chr17:33904315 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.-108A>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000292518] Chr17:35578129 [GRCh38]
Chr17:33905148 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*474A>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000402687] Chr17:35575308 [GRCh38]
Chr17:33902327 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*922T>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000385038] Chr17:35574860 [GRCh38]
Chr17:33901879 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*532A>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000404041] Chr17:35575250 [GRCh38]
Chr17:33902269 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*433T>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000306734] Chr17:35575349 [GRCh38]
Chr17:33902368 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.-405C>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000405680] Chr17:35578426 [GRCh38]
Chr17:33905445 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.-145C>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000387761] Chr17:35578166 [GRCh38]
Chr17:33905185 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.681-2A>C single nucleotide variant PEX12-related disorder [RCV004553310]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000668976]|Peroxisome biogenesis disorder [RCV000781709]|not provided [RCV000597979] Chr17:35576183 [GRCh38]
Chr17:33903202 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000286.3(PEX12):c.*767CTAAT[1] microsatellite Peroxisome biogenesis disorder 1A (Zellweger) [RCV000286510] Chr17:35575006..35575010 [GRCh38]
Chr17:33902025..33902029 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*519A>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000312481] Chr17:35575263 [GRCh38]
Chr17:33902282 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.-340G>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000343840] Chr17:35578361 [GRCh38]
Chr17:33905380 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*778G>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000378599] Chr17:35575004 [GRCh38]
Chr17:33902023 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.285G>A (p.Gly95=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001425316]|not provided [RCV000592447] Chr17:35577433 [GRCh38]
Chr17:33904452 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000286.3(PEX12):c.352A>G (p.Met118Val) single nucleotide variant Inborn genetic diseases [RCV003372764]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001365902]|Peroxisome biogenesis disorder type 3B [RCV002491207]|not provided [RCV000593454] Chr17:35577366 [GRCh38]
Chr17:33904385 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.86T>G (p.Leu29Ter) single nucleotide variant not provided [RCV000731271] Chr17:35577936 [GRCh38]
Chr17:33904955 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.684_687del (p.Ser229fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV000410147]|Peroxisome biogenesis disorder type 3B [RCV000412130] Chr17:35576175..35576178 [GRCh38]
Chr17:33903194..33903197 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.295A>G (p.Lys99Glu) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001862151]|not provided [RCV000728553] Chr17:35577423 [GRCh38]
Chr17:33904442 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.322C>T (p.Leu108Phe) single nucleotide variant not provided [RCV000733171] Chr17:35577396 [GRCh38]
Chr17:33904415 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.126+1G>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000412365]|Peroxisome biogenesis disorder [RCV000589854]|Peroxisome biogenesis disorder type 3B [RCV002505997]|not provided [RCV000730395] Chr17:35577895 [GRCh38]
Chr17:33904914 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.8A>G (p.Glu3Gly) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001867975]|not provided [RCV000594312] Chr17:35578014 [GRCh38]
Chr17:33905033 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.609_611dup (p.Thr204dup) duplication not provided [RCV000734692] Chr17:35577106..35577107 [GRCh38]
Chr17:33904125..33904126 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.456G>T (p.Trp152Cys) single nucleotide variant not provided [RCV000732812] Chr17:35577262 [GRCh38]
Chr17:33904281 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.570A>G (p.Ser190=) single nucleotide variant PEX12-related disorder [RCV004547927]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001079059]|not provided [RCV000729923] Chr17:35577148 [GRCh38]
Chr17:33904167 [GRCh37]
Chr17:17q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) duplication PEX12-related disorder [RCV003335311]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000410995]|Peroxisome biogenesis disorder [RCV000781710]|Peroxisome biogenesis disorder type 3B [RCV000409475]|not provided [RCV000728570] Chr17:35576128..35576129 [GRCh38]
Chr17:33903147..33903148 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.688G>A (p.Glu230Lys) single nucleotide variant not provided [RCV000730872] Chr17:35576174 [GRCh38]
Chr17:33903193 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.597G>A (p.Gln199=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002535412]|not provided [RCV000735016] Chr17:35577121 [GRCh38]
Chr17:33904140 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) microsatellite Peroxisome biogenesis disorder 3A (Zellweger) [RCV001861489]|Peroxisome biogenesis disorder type 3B [RCV000672446]|Peroxisome biogenesis disorder type 3B [RCV000989843]|not provided [RCV000440158]|not specified [RCV002282136] Chr17:35577348..35577350 [GRCh38]
Chr17:33904367..33904369 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000286.3(PEX12):c.765_766dup (p.Phe256fs) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV000416562] Chr17:35576095..35576096 [GRCh38]
Chr17:33903114..33903115 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) microsatellite Peroxisome biogenesis disorder 3A (Zellweger) [RCV000502221]|Peroxisome biogenesis disorder [RCV003403180]|Peroxisome biogenesis disorder type 3B [RCV000670939] Chr17:35577183..35577185 [GRCh38]
Chr17:33904202..33904204 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000286.3(PEX12):c.190_194del (p.Thr64fs) deletion Peroxisome biogenesis disorder type 3B [RCV000669057] Chr17:35577524..35577528 [GRCh38]
Chr17:33904543..33904547 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001861777]|Peroxisome biogenesis disorder type 3B [RCV000669505] Chr17:35577318..35577326 [GRCh38]
Chr17:33904337..33904345 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) deletion PEX12-related disorder [RCV003336090]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000690109]|Peroxisome biogenesis disorder [RCV000781708]|Peroxisome biogenesis disorder type 3B [RCV000665252]|not provided [RCV000595990] Chr17:35577447..35577450 [GRCh38]
Chr17:33904466..33904469 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.739C>G (p.Leu247Val) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002532602]|not provided [RCV000595610] Chr17:35576123 [GRCh38]
Chr17:33903142 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs) deletion Peroxisome biogenesis disorder type 3B [RCV000672360] Chr17:35575791..35575792 [GRCh38]
Chr17:33902810..33902811 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) single nucleotide variant Inborn genetic diseases [RCV004024866]|PEX12-related disorder [RCV004740362]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002532678]|Peroxisome biogenesis disorder type 3B [RCV000765347]|not provided [RCV000595486]|not specified [RCV000781712] Chr17:35576125 [GRCh38]
Chr17:33903144 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000286.3(PEX12):c.1020C>T (p.Pro340=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003825128] Chr17:35575842 [GRCh38]
Chr17:33902861 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.1_2del (p.Met1fs) deletion Peroxisome biogenesis disorder type 3B [RCV000672791] Chr17:35578020..35578021 [GRCh38]
Chr17:33905039..33905040 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del) deletion Peroxisome biogenesis disorder type 3B [RCV000672478] Chr17:35577981..35578004 [GRCh38]
Chr17:33905000..33905023 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.126+2T>A single nucleotide variant Peroxisome biogenesis disorder type 3B [RCV000671104] Chr17:35577894 [GRCh38]
Chr17:33904913 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000286.3(PEX12):c.1023del (p.Thr342fs) deletion Peroxisome biogenesis disorder type 3B [RCV000671270] Chr17:35575839 [GRCh38]
Chr17:33902858 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.680+26T>C single nucleotide variant not provided [RCV000676168] Chr17:35577012 [GRCh38]
Chr17:33904031 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter) single nucleotide variant PEX12-related disorder [RCV004547837]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV003534546]|Peroxisome biogenesis disorder type 3B [RCV000666724] Chr17:35577258 [GRCh38]
Chr17:33904277 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.664C>T (p.Gln222Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003472093]|Peroxisome biogenesis disorder type 3B [RCV000668008] Chr17:35577054 [GRCh38]
Chr17:33904073 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001390433]|Peroxisome biogenesis disorder type 3B [RCV000666766] Chr17:35577114 [GRCh38]
Chr17:33904133 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV001868221]|Peroxisome biogenesis disorder type 3B [RCV000668380] Chr17:35577945..35577946 [GRCh38]
Chr17:33904964..33904965 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002532046]|Peroxisome biogenesis disorder type 3B [RCV000665795] Chr17:35577973 [GRCh38]
Chr17:33904992 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.744dup (p.Thr249fs) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV001333351]|Peroxisome biogenesis disorder [RCV001174916]|Peroxisome biogenesis disorder type 3B [RCV000669254]|not provided [RCV001008292] Chr17:35576117..35576118 [GRCh38]
Chr17:33903136..33903137 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV000705464]|Peroxisome biogenesis disorder type 3B [RCV000665361] Chr17:35576075..35576077 [GRCh38]
Chr17:33903094..33903096 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.687_690del (p.Ser229fs) deletion Peroxisome biogenesis disorder type 3B [RCV000667506] Chr17:35576172..35576175 [GRCh38]
Chr17:33903191..33903194 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del) deletion Peroxisome biogenesis disorder type 3B [RCV000667630] Chr17:35575992..35575997 [GRCh38]
Chr17:33903011..33903016 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000819199]|Peroxisome biogenesis disorder [RCV000781711]|Peroxisome biogenesis disorder type 3B [RCV000671389] Chr17:35577093 [GRCh38]
Chr17:33904112 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) microsatellite Peroxisome biogenesis disorder 3A (Zellweger) [RCV001239384]|Peroxisome biogenesis disorder [RCV003226365]|Peroxisome biogenesis disorder type 3B [RCV000674189] Chr17:35575874..35575875 [GRCh38]
Chr17:33902893..33902894 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic|uncertain significance
NM_000286.3(PEX12):c.182_184dup (p.Glu61_Ile62insLys) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV001035823]|Peroxisome biogenesis disorder type 3B [RCV000665716]|not provided [RCV000728569] Chr17:35577533..35577534 [GRCh38]
Chr17:33904552..33904553 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer) inversion Peroxisome biogenesis disorder type 3B [RCV000668131] Chr17:35577287..35577289 [GRCh38]
Chr17:33904306..33904308 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del) microsatellite Peroxisome biogenesis disorder 3A (Zellweger) [RCV001378694]|Peroxisome biogenesis disorder type 3B [RCV000671986]|Peroxisome biogenesis disorder type 3B [RCV002250679] Chr17:35575813..35575815 [GRCh38]
Chr17:33902832..33902834 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.680+1G>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001861845]|Peroxisome biogenesis disorder type 3B [RCV000674616] Chr17:35577037 [GRCh38]
Chr17:33904056 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000286.3(PEX12):c.961_964del (p.Gly321fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001382391]|Peroxisome biogenesis disorder type 3B [RCV000674917] Chr17:35575898..35575901 [GRCh38]
Chr17:33902917..33902920 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.781del (p.Asp262fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001385892]|Peroxisome biogenesis disorder type 3B [RCV000668677] Chr17:35576081 [GRCh38]
Chr17:33903100 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.644del (p.Pro215fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653257]|Peroxisome biogenesis disorder type 3B [RCV000672949] Chr17:35577074 [GRCh38]
Chr17:33904093 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.88_89del (p.Met30fs) deletion Peroxisome biogenesis disorder type 3B [RCV000673039] Chr17:35577933..35577934 [GRCh38]
Chr17:33904952..33904953 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001861749]|Peroxisome biogenesis disorder type 3B [RCV000666102] Chr17:35577507 [GRCh38]
Chr17:33904526 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.223_224del (p.Leu75fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001387645]|Peroxisome biogenesis disorder type 3B [RCV000664813] Chr17:35577494..35577495 [GRCh38]
Chr17:33904513..33904514 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001237704]|Peroxisome biogenesis disorder type 3B [RCV000666647] Chr17:35576073 [GRCh38]
Chr17:33903092 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter) single nucleotide variant Peroxisome biogenesis disorder type 3B [RCV000667563] Chr17:35575884 [GRCh38]
Chr17:33902903 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:32351496-34455576)x1 copy number loss not provided [RCV000683918] Chr17:32351496..34455576 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000286.3(PEX12):c.867C>T (p.Asp289=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000947811]|Peroxisome biogenesis disorder type 3B [RCV002502911] Chr17:35575995 [GRCh38]
Chr17:33903014 [GRCh37]
Chr17:17q12		 benign
NM_000286.3(PEX12):c.543C>T (p.Tyr181=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000923386] Chr17:35577175 [GRCh38]
Chr17:33904194 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.1068C>T (p.Ser356=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000902898] Chr17:35575794 [GRCh38]
Chr17:33902813 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.189T>C (p.Phe63=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000944283] Chr17:35577529 [GRCh38]
Chr17:33904548 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.9G>C (p.Glu3Asp) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001065126] Chr17:35578013 [GRCh38]
Chr17:33905032 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.200A>G (p.Asp67Gly) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001058798] Chr17:35577518 [GRCh38]
Chr17:33904537 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.306A>T (p.Arg102Ser) single nucleotide variant Inborn genetic diseases [RCV002555914]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001071991] Chr17:35577412 [GRCh38]
Chr17:33904431 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.758T>C (p.Val253Ala) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001038648] Chr17:35576104 [GRCh38]
Chr17:33903123 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.445_454del (p.Ser149fs) deletion Peroxisome biogenesis disorder [RCV000781713] Chr17:35577264..35577273 [GRCh38]
Chr17:33904283..33904292 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000286.3(PEX12):c.126+8A>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002065618] Chr17:35577888 [GRCh38]
Chr17:33904907 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.261C>T (p.Tyr87=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001498474] Chr17:35577457 [GRCh38]
Chr17:33904476 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.447T>C (p.Ser149=) single nucleotide variant PEX12-related disorder [RCV004551870]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000927074] Chr17:35577271 [GRCh38]
Chr17:33904290 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.666G>A (p.Gln222=) single nucleotide variant PEX12-related disorder [RCV004553521]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV000982114]|not provided [RCV003992427] Chr17:35577052 [GRCh38]
Chr17:33904071 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.186C>T (p.Ile62=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001427922] Chr17:35577532 [GRCh38]
Chr17:33904551 [GRCh37]
Chr17:17q12		 likely benign
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
NC_000017.10:g.(?_33902781)_(33905060_?)dup duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV000813320] Chr17:35575762..35578041 [GRCh38]
Chr17:33902781..33905060 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.216A>G (p.Gln72=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001246015] Chr17:35577502 [GRCh38]
Chr17:33904521 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000286.3(PEX12):c.20A>G (p.His7Arg) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001248425] Chr17:35578002 [GRCh38]
Chr17:33905021 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.680G>A (p.Ser227Asn) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001239976] Chr17:35577038 [GRCh38]
Chr17:33904057 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.661A>G (p.Met221Val) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001240135] Chr17:35577057 [GRCh38]
Chr17:33904076 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.237T>A (p.Ser79Arg) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001223397] Chr17:35577481 [GRCh38]
Chr17:33904500 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.539G>A (p.Arg180Gln) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001212248] Chr17:35577179 [GRCh38]
Chr17:33904198 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*109A>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001124641] Chr17:35575673 [GRCh38]
Chr17:33902692 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*781T>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001127659] Chr17:35575001 [GRCh38]
Chr17:33902020 [GRCh37]
Chr17:17q12		 benign
NM_000286.3(PEX12):c.-360G>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001127750] Chr17:35578381 [GRCh38]
Chr17:33905400 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*783A>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001125569] Chr17:35574999 [GRCh38]
Chr17:33902018 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*411A>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001123564] Chr17:35575371 [GRCh38]
Chr17:33902390 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.681-321dup duplication not provided [RCV001561603] Chr17:35576487..35576488 [GRCh38]
Chr17:33903506..33903507 [GRCh37]
Chr17:17q12		 likely benign
NC_000017.11:g.35578961A>G single nucleotide variant not provided [RCV001545500] Chr17:35578961 [GRCh38]
Chr17:33905980 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV000974679]|not provided [RCV001575602]|not specified [RCV001805945] Chr17:35576129 [GRCh38]
Chr17:33903148 [GRCh37]
Chr17:17q12		 benign|likely benign
NM_000286.3(PEX12):c.408C>T (p.Ser136=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001405145] Chr17:35577310 [GRCh38]
Chr17:33904329 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.398T>A (p.Leu133Gln) single nucleotide variant not provided [RCV001760547] Chr17:35577320 [GRCh38]
Chr17:33904339 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.849A>G (p.Pro283=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002065504] Chr17:35576013 [GRCh38]
Chr17:33903032 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.294C>A (p.His98Gln) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001245050] Chr17:35577424 [GRCh38]
Chr17:33904443 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.31del (p.Ala11fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001050835] Chr17:35577991 [GRCh38]
Chr17:33905010 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.856G>A (p.Val286Ile) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001124644]|Peroxisome biogenesis disorder type 3B [RCV002482239] Chr17:35576006 [GRCh38]
Chr17:33903025 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.126+123A>C single nucleotide variant not provided [RCV001548585] Chr17:35577773 [GRCh38]
Chr17:33904792 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.845C>T (p.Pro282Leu) single nucleotide variant Inborn genetic diseases [RCV003253422] Chr17:35576017 [GRCh38]
Chr17:33903036 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.681-307del deletion not provided [RCV001641286] Chr17:35576488 [GRCh38]
Chr17:33903507 [GRCh37]
Chr17:17q12		 benign
NM_000286.3(PEX12):c.681-276_681-274dup duplication not provided [RCV001687005] Chr17:35576454..35576455 [GRCh38]
Chr17:33903473..33903474 [GRCh37]
Chr17:17q12		 benign
NM_000286.3(PEX12):c.793T>C (p.Tyr265His) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001124645] Chr17:35576069 [GRCh38]
Chr17:33903088 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*509T>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001123563] Chr17:35575273 [GRCh38]
Chr17:33902292 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.*708G>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001127660] Chr17:35575074 [GRCh38]
Chr17:33902093 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.430T>C (p.Ser144Pro) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001175104] Chr17:35577288 [GRCh38]
Chr17:33904307 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.-358G>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001127749] Chr17:35578379 [GRCh38]
Chr17:33905398 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.680+171T>C single nucleotide variant not provided [RCV001652807] Chr17:35576867 [GRCh38]
Chr17:33903886 [GRCh37]
Chr17:17q12		 benign
NM_000286.3(PEX12):c.571C>A (p.Pro191Thr) single nucleotide variant Peroxisome biogenesis disorder type 3B [RCV001198670] Chr17:35577147 [GRCh38]
Chr17:33904166 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.305G>C (p.Arg102Thr) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001212516] Chr17:35577413 [GRCh38]
Chr17:33904432 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.203T>A (p.Leu68His) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001207603] Chr17:35577515 [GRCh38]
Chr17:33904534 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.565C>T (p.His189Tyr) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001220428] Chr17:35577153 [GRCh38]
Chr17:33904172 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.421G>A (p.Asp141Asn) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001204656] Chr17:35577297 [GRCh38]
Chr17:33904316 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*39G>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001124642] Chr17:35575743 [GRCh38]
Chr17:33902762 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.62_63del (p.Ile20_Phe21insTer) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001206889] Chr17:35577959..35577960 [GRCh38]
Chr17:33904978..33904979 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.*923G>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001125568] Chr17:35574859 [GRCh38]
Chr17:33901878 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*520A>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001127661] Chr17:35575262 [GRCh38]
Chr17:33902281 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.335A>G (p.Gln112Arg) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001038495] Chr17:35577383 [GRCh38]
Chr17:33904402 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.905C>T (p.Thr302Ile) single nucleotide variant Inborn genetic diseases [RCV003283905]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001051700] Chr17:35575957 [GRCh38]
Chr17:33902976 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.442C>T (p.Pro148Ser) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001051873] Chr17:35577276 [GRCh38]
Chr17:33904295 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.538C>G (p.Arg180Gly) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001205430] Chr17:35577180 [GRCh38]
Chr17:33904199 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.*38C>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001124643] Chr17:35575744 [GRCh38]
Chr17:33902763 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.997G>T (p.Val333Leu) single nucleotide variant Inborn genetic diseases [RCV002553048]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001038818] Chr17:35575865 [GRCh38]
Chr17:33902884 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.601G>T (p.Gly201Cys) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001308495] Chr17:35577117 [GRCh38]
Chr17:33904136 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.239C>T (p.Ala80Val) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001296702] Chr17:35577479 [GRCh38]
Chr17:33904498 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.260_261insAA (p.Tyr87Ter) insertion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001382682]|not provided [RCV001507378] Chr17:35577457..35577458 [GRCh38]
Chr17:33904476..33904477 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.319G>C (p.Gly107Arg) single nucleotide variant PEX12-related disorder [RCV004728684]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001370175] Chr17:35577399 [GRCh38]
Chr17:33904418 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.263G>C (p.Gly88Ala) single nucleotide variant Inborn genetic diseases [RCV003294193]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001294901] Chr17:35577455 [GRCh38]
Chr17:33904474 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.895A>T (p.Lys299Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001383266] Chr17:35575967 [GRCh38]
Chr17:33902986 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.18T>C (p.Ala6=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001392474] Chr17:35578004 [GRCh38]
Chr17:33905023 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.903G>C (p.Lys301Asn) single nucleotide variant Inborn genetic diseases [RCV003169690]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001346987] Chr17:35575959 [GRCh38]
Chr17:33902978 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.1021A>T (p.Ile341Phe) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001345147] Chr17:35575841 [GRCh38]
Chr17:33902860 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.245T>G (p.Phe82Cys) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001297731] Chr17:35577473 [GRCh38]
Chr17:33904492 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.127-11_127-2del deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001395168] Chr17:35577593..35577602 [GRCh38]
Chr17:33904612..33904621 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.360G>C (p.Leu120=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001421437] Chr17:35577358 [GRCh38]
Chr17:33904377 [GRCh37]
Chr17:17q12		 likely benign
NC_000017.10:g.(?_33902781)_(33905060_?)dup duplication Peroxisome biogenesis disorder 3A [RCV001303873] Chr17:33902781..33905060 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.236G>C (p.Ser79Thr) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001365994] Chr17:35577482 [GRCh38]
Chr17:33904501 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.495T>C (p.Phe165=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001486950] Chr17:35577223 [GRCh38]
Chr17:33904242 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.288C>T (p.Asp96=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001490736] Chr17:35577430 [GRCh38]
Chr17:33904449 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.912C>T (p.Cys304=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001479397] Chr17:35575950 [GRCh38]
Chr17:33902969 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.9G>A (p.Glu3=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001503063] Chr17:35578013 [GRCh38]
Chr17:33905032 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.920_921del (p.Cys307fs) microsatellite Peroxisome biogenesis disorder 3A (Zellweger) [RCV001380807] Chr17:35575941..35575942 [GRCh38]
Chr17:33902960..33902961 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.888C>G (p.Leu296=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001492823] Chr17:35575974 [GRCh38]
Chr17:33902993 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.75A>G (p.Ala25=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001462296] Chr17:35577947 [GRCh38]
Chr17:33904966 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.6T>C (p.Ala2=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001477183] Chr17:35578016 [GRCh38]
Chr17:33905035 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.576G>C (p.Leu192=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001403431] Chr17:35577142 [GRCh38]
Chr17:33904161 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.681-15C>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001487563] Chr17:35576196 [GRCh38]
Chr17:33903215 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.765A>G (p.Val255=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001443536] Chr17:35576097 [GRCh38]
Chr17:33903116 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.388C>T (p.Leu130=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001409713] Chr17:35577330 [GRCh38]
Chr17:33904349 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.834C>T (p.Ala278=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001432848] Chr17:35576028 [GRCh38]
Chr17:33903047 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.969_970del (p.Phe324fs) microsatellite Peroxisome biogenesis disorder 3A (Zellweger) [RCV001381260] Chr17:35575892..35575893 [GRCh38]
Chr17:33902911..33902912 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.291T>C (p.Thr97=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001449019] Chr17:35577427 [GRCh38]
Chr17:33904446 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.1014T>G (p.Ala338=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001410069] Chr17:35575848 [GRCh38]
Chr17:33902867 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.861C>T (p.His287=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001397789] Chr17:35576001 [GRCh38]
Chr17:33903020 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.396G>A (p.Lys132=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001399447] Chr17:35577322 [GRCh38]
Chr17:33904341 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.450C>A (p.Ser150=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001444588] Chr17:35577268 [GRCh38]
Chr17:33904287 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.1062C>G (p.Leu354=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001408031]|not provided [RCV004706107] Chr17:35575800 [GRCh38]
Chr17:33902819 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.910_911del (p.Cys304fs) microsatellite Peroxisome biogenesis disorder 3A (Zellweger) [RCV001381697]|Peroxisome biogenesis disorder [RCV004017827]|not provided [RCV001820082] Chr17:35575951..35575952 [GRCh38]
Chr17:33902970..33902971 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.826T>C (p.Leu276=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001445151] Chr17:35576036 [GRCh38]
Chr17:33903055 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.906T>C (p.Thr302=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001411011] Chr17:35575956 [GRCh38]
Chr17:33902975 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001388910] Chr17:35577387 [GRCh38]
Chr17:33904406 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.174del (p.Trp58fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001381954] Chr17:35577544 [GRCh38]
Chr17:33904563 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.783T>C (p.Leu261=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001499043] Chr17:35576079 [GRCh38]
Chr17:33903098 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.795C>T (p.Tyr265=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001451390] Chr17:35576067 [GRCh38]
Chr17:33903086 [GRCh37]
Chr17:17q12		 likely benign
NC_000017.11:g.35578726C>T single nucleotide variant not provided [RCV001614923] Chr17:35578726 [GRCh38]
Chr17:33905745 [GRCh37]
Chr17:17q12		 benign
NM_000286.3(PEX12):c.156T>C (p.Tyr52=) single nucleotide variant PEX12-related disorder [RCV004740696]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001454969] Chr17:35577562 [GRCh38]
Chr17:33904581 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.93A>C (p.Thr31=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001459725] Chr17:35577929 [GRCh38]
Chr17:33904948 [GRCh37]
Chr17:17q12		 likely benign
NC_000017.11:g.35577561_35577592del deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001390348] Chr17:35577560..35577591 [GRCh38]
Chr17:33904579..33904610 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.225G>A (p.Leu75=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001498531] Chr17:35577493 [GRCh38]
Chr17:33904512 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.409C>T (p.Leu137=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001451451] Chr17:35577309 [GRCh38]
Chr17:33904328 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.714A>G (p.Lys238=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001480320] Chr17:35576148 [GRCh38]
Chr17:33903167 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.375T>C (p.Tyr125=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001496864] Chr17:35577343 [GRCh38]
Chr17:33904362 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.210C>G (p.Leu70=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001454406] Chr17:35577508 [GRCh38]
Chr17:33904527 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.885C>T (p.Pro295=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001398591] Chr17:35575977 [GRCh38]
Chr17:33902996 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.1039_1040del (p.Glu347fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001377791] Chr17:35575822..35575823 [GRCh38]
Chr17:33902841..33902842 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.1042G>A (p.Val348Ile) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002032846]|not provided [RCV001767139] Chr17:35575820 [GRCh38]
Chr17:33902839 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.853C>T (p.Pro285Ser) single nucleotide variant not provided [RCV003237468] Chr17:35576009 [GRCh38]
Chr17:33903028 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000286.3(PEX12):c.907G>A (p.Val303Met) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002544024]|not provided [RCV001760546] Chr17:35575955 [GRCh38]
Chr17:33902974 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.1022T>A (p.Ile341Asn) single nucleotide variant not provided [RCV001779618] Chr17:35575840 [GRCh38]
Chr17:33902859 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.616C>A (p.Gln206Lys) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001968309] Chr17:35577102 [GRCh38]
Chr17:33904121 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.106G>C (p.Ala36Pro) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001911613] Chr17:35577916 [GRCh38]
Chr17:33904935 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.145C>G (p.Pro49Ala) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001913764] Chr17:35577573 [GRCh38]
Chr17:33904592 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.799T>C (p.Ser267Pro) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001928405] Chr17:35576063 [GRCh38]
Chr17:33903082 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.53C>T (p.Pro18Leu) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001915088] Chr17:35577969 [GRCh38]
Chr17:33904988 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.55T>C (p.Ser19Pro) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001889318] Chr17:35577967 [GRCh38]
Chr17:33904986 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.191C>T (p.Thr64Ile) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002006893] Chr17:35577527 [GRCh38]
Chr17:33904546 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.13G>A (p.Gly5Arg) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002039435] Chr17:35578009 [GRCh38]
Chr17:33905028 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.307T>C (p.Leu103=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002045415] Chr17:35577411 [GRCh38]
Chr17:33904430 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.628G>T (p.Ala210Ser) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001894251] Chr17:35577090 [GRCh38]
Chr17:33904109 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.1008C>A (p.His336Gln) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001910191] Chr17:35575854 [GRCh38]
Chr17:33902873 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.126+3A>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002006766] Chr17:35577893 [GRCh38]
Chr17:33904912 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.308dup (p.Leu103fs) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV001844387] Chr17:35577409..35577410 [GRCh38]
Chr17:33904428..33904429 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.745A>G (p.Thr249Ala) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001984445] Chr17:35576117 [GRCh38]
Chr17:33903136 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.94G>A (p.Ala32Thr) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001895696] Chr17:35577928 [GRCh38]
Chr17:33904947 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.877G>A (p.Asp293Asn) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001913661] Chr17:35575985 [GRCh38]
Chr17:33903004 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.126+6G>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001889911] Chr17:35577890 [GRCh38]
Chr17:33904909 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.301C>G (p.Gln101Glu) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002041437] Chr17:35577417 [GRCh38]
Chr17:33904436 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.73G>C (p.Ala25Pro) single nucleotide variant Inborn genetic diseases [RCV002569331]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001969403] Chr17:35577949 [GRCh38]
Chr17:33904968 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.860A>T (p.His287Leu) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002021757] Chr17:35576002 [GRCh38]
Chr17:33903021 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.126+1G>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001965297] Chr17:35577895 [GRCh38]
Chr17:33904914 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.940G>C (p.Asp314His) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001925453] Chr17:35575922 [GRCh38]
Chr17:33902941 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.967G>C (p.Val323Leu) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002037607] Chr17:35575895 [GRCh38]
Chr17:33902914 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.1012G>A (p.Ala338Thr) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002038861] Chr17:35575850 [GRCh38]
Chr17:33902869 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.272G>C (p.Arg91Thr) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002038892] Chr17:35577446 [GRCh38]
Chr17:33904465 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.391G>A (p.Glu131Lys) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001884470] Chr17:35577327 [GRCh38]
Chr17:33904346 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.424G>A (p.Glu142Lys) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001944639] Chr17:35577294 [GRCh38]
Chr17:33904313 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.101G>A (p.Arg34Lys) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001887317] Chr17:35577921 [GRCh38]
Chr17:33904940 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.892C>T (p.Pro298Ser) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001888138] Chr17:35575970 [GRCh38]
Chr17:33902989 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.51_54del (p.Gln17fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001918071] Chr17:35577968..35577971 [GRCh38]
Chr17:33904987..33904990 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.724G>A (p.Gly242Ser) single nucleotide variant Inborn genetic diseases [RCV002563547]|PEX12-related disorder [RCV004552131]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV001997499] Chr17:35576138 [GRCh38]
Chr17:33903157 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.671C>G (p.Pro224Arg) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001999171] Chr17:35577047 [GRCh38]
Chr17:33904066 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.680_680+1delinsCA indel Peroxisome biogenesis disorder 3A (Zellweger) [RCV002037812] Chr17:35577037..35577038 [GRCh38]
Chr17:33904056..33904057 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.46G>A (p.Asp16Asn) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001888225] Chr17:35577976 [GRCh38]
Chr17:33904995 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.830C>T (p.Thr277Ile) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001980886] Chr17:35576032 [GRCh38]
Chr17:33903051 [GRCh37]
Chr17:17q12		 uncertain significance
NC_000017.10:g.(?_33902791)_(33905066_?)del deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001942075] Chr17:33902791..33905066 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.431C>T (p.Ser144Phe) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002038684] Chr17:35577287 [GRCh38]
Chr17:33904306 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.174G>T (p.Trp58Cys) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001952462] Chr17:35577544 [GRCh38]
Chr17:33904563 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.932G>A (p.Arg311Gln) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001922380] Chr17:35575930 [GRCh38]
Chr17:33902949 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.795C>G (p.Tyr265Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001932496] Chr17:35576067 [GRCh38]
Chr17:33903086 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.151_154del (p.His51fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001935814] Chr17:35577564..35577567 [GRCh38]
Chr17:33904583..33904586 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.222dup (p.Leu75fs) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV001931308] Chr17:35577495..35577496 [GRCh38]
Chr17:33904514..33904515 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.1027G>A (p.Gly343Ser) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001918086] Chr17:35575835 [GRCh38]
Chr17:33902854 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.391_408dup (p.Glu131_Ser136dup) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV001880536] Chr17:35577309..35577310 [GRCh38]
Chr17:33904328..33904329 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.511del (p.Glu171fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001951022] Chr17:35577207 [GRCh38]
Chr17:33904226 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.847C>T (p.Pro283Ser) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001930687] Chr17:35576015 [GRCh38]
Chr17:33903034 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.413G>T (p.Arg138Ile) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001960867] Chr17:35577305 [GRCh38]
Chr17:33904324 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.1060C>T (p.Leu354Phe) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001876367] Chr17:35575802 [GRCh38]
Chr17:33902821 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.946G>C (p.Val316Leu) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002029803] Chr17:35575916 [GRCh38]
Chr17:33902935 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.305_306del (p.Arg102fs) microsatellite Peroxisome biogenesis disorder 3A (Zellweger) [RCV001877826] Chr17:35577412..35577413 [GRCh38]
Chr17:33904431..33904432 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.461G>A (p.Arg154Gln) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001876682] Chr17:35577257 [GRCh38]
Chr17:33904276 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.761G>C (p.Gly254Ala) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002049901] Chr17:35576101 [GRCh38]
Chr17:33903120 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.43G>A (p.Asp15Asn) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002027489] Chr17:35577979 [GRCh38]
Chr17:33904998 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.471del (p.Ala158fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001974575] Chr17:35577247 [GRCh38]
Chr17:33904266 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.1060C>G (p.Leu354Val) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001930376] Chr17:35575802 [GRCh38]
Chr17:33902821 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.1006C>T (p.His336Tyr) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001933179] Chr17:35575856 [GRCh38]
Chr17:33902875 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.842del (p.Thr281fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001939441] Chr17:35576020 [GRCh38]
Chr17:33903039 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.435T>G (p.Ile145Met) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001993453] Chr17:35577283 [GRCh38]
Chr17:33904302 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.244T>C (p.Phe82Leu) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002014085] Chr17:35577474 [GRCh38]
Chr17:33904493 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.373T>C (p.Tyr125His) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001996885] Chr17:35577345 [GRCh38]
Chr17:33904364 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.514G>A (p.Gly172Arg) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001932949] Chr17:35577204 [GRCh38]
Chr17:33904223 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.354G>A (p.Met118Ile) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002019031] Chr17:35577364 [GRCh38]
Chr17:33904383 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.913C>G (p.Pro305Ala) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001938538] Chr17:35575949 [GRCh38]
Chr17:33902968 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.485C>G (p.Ala162Gly) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001906945] Chr17:35577233 [GRCh38]
Chr17:33904252 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.768CTT[1] (p.Phe257del) microsatellite Peroxisome biogenesis disorder 3A (Zellweger) [RCV001925581] Chr17:35576089..35576091 [GRCh38]
Chr17:33903108..33903110 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.382G>A (p.Val128Met) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001933895] Chr17:35577336 [GRCh38]
Chr17:33904355 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.944C>A (p.Thr315Asn) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002031512] Chr17:35575918 [GRCh38]
Chr17:33902937 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.899T>C (p.Met300Thr) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001925066] Chr17:35575963 [GRCh38]
Chr17:33902982 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.505G>A (p.Ala169Thr) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001940209] Chr17:35577213 [GRCh38]
Chr17:33904232 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.342G>A (p.Trp114Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001918534] Chr17:35577376 [GRCh38]
Chr17:33904395 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.116del (p.His39fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV001957889] Chr17:35577906 [GRCh38]
Chr17:33904925 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.913C>T (p.Pro305Ser) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001903887] Chr17:35575949 [GRCh38]
Chr17:33902968 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.551G>A (p.Gly184Glu) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002016510] Chr17:35577167 [GRCh38]
Chr17:33904186 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.908T>C (p.Val303Ala) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001875413] Chr17:35575954 [GRCh38]
Chr17:33902973 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.734T>C (p.Leu245Ser) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001898396] Chr17:35576128 [GRCh38]
Chr17:33903147 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.127-3T>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001877677] Chr17:35577594 [GRCh38]
Chr17:33904613 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.518G>A (p.Trp173Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001898428] Chr17:35577200 [GRCh38]
Chr17:33904219 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.16G>A (p.Ala6Thr) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001923188] Chr17:35578006 [GRCh38]
Chr17:33905025 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.166T>C (p.Trp56Arg) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV001994040] Chr17:35577552 [GRCh38]
Chr17:33904571 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.127-12A>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002125401] Chr17:35577603 [GRCh38]
Chr17:33904622 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.150C>A (p.Thr50=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002074602] Chr17:35577568 [GRCh38]
Chr17:33904587 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.567C>T (p.His189=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002127882] Chr17:35577151 [GRCh38]
Chr17:33904170 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.271A>C (p.Arg91=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002108799] Chr17:35577447 [GRCh38]
Chr17:33904466 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.223C>T (p.Leu75=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002110368] Chr17:35577495 [GRCh38]
Chr17:33904514 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.276T>C (p.Ile92=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002191788] Chr17:35577442 [GRCh38]
Chr17:33904461 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.705T>C (p.Ala235=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002091311] Chr17:35576157 [GRCh38]
Chr17:33903176 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.127-19T>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002105125] Chr17:35577610 [GRCh38]
Chr17:33904629 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.864A>G (p.Leu288=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002093148] Chr17:35575998 [GRCh38]
Chr17:33903017 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.708G>A (p.Leu236=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002146253] Chr17:35576154 [GRCh38]
Chr17:33903173 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.345A>G (p.Lys115=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002095137] Chr17:35577373 [GRCh38]
Chr17:33904392 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.680+18C>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002195687] Chr17:35577020 [GRCh38]
Chr17:33904039 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.969G>A (p.Val323=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002134751] Chr17:35575893 [GRCh38]
Chr17:33902912 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.420G>A (p.Glu140=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002171395] Chr17:35577298 [GRCh38]
Chr17:33904317 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.315T>C (p.Ser105=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002210890] Chr17:35577403 [GRCh38]
Chr17:33904422 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.474T>C (p.Ala158=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002112412] Chr17:35577244 [GRCh38]
Chr17:33904263 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.348T>C (p.Ser116=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002111202] Chr17:35577370 [GRCh38]
Chr17:33904389 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.42C>G (p.Ala14=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002130843] Chr17:35577980 [GRCh38]
Chr17:33904999 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.60C>T (p.Ile20=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002195055] Chr17:35577962 [GRCh38]
Chr17:33904981 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.680+10T>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002077921] Chr17:35577028 [GRCh38]
Chr17:33904047 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.582G>A (p.Arg194=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002212097] Chr17:35577136 [GRCh38]
Chr17:33904155 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.699C>T (p.Asn233=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002131266] Chr17:35576163 [GRCh38]
Chr17:33903182 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.777G>A (p.Gln259=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002171548] Chr17:35576085 [GRCh38]
Chr17:33903104 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.547C>T (p.Leu183=) single nucleotide variant PEX12-related disorder [RCV004553815]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002128615] Chr17:35577171 [GRCh38]
Chr17:33904190 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.1032T>C (p.Tyr344=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002178931] Chr17:35575830 [GRCh38]
Chr17:33902849 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.351T>C (p.Ile117=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002203345] Chr17:35577367 [GRCh38]
Chr17:33904386 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.888C>T (p.Leu296=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002156637] Chr17:35575974 [GRCh38]
Chr17:33902993 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.492A>G (p.Pro164=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002138450]|not provided [RCV003418395] Chr17:35577226 [GRCh38]
Chr17:33904245 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.51G>A (p.Gln17=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002119540] Chr17:35577971 [GRCh38]
Chr17:33904990 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.574C>T (p.Leu192=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002156078] Chr17:35577144 [GRCh38]
Chr17:33904163 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.114G>A (p.Gln38=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002099071] Chr17:35577908 [GRCh38]
Chr17:33904927 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.193C>T (p.Leu65=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002156996] Chr17:35577525 [GRCh38]
Chr17:33904544 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.645A>G (p.Pro215=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002083876] Chr17:35577073 [GRCh38]
Chr17:33904092 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.936G>A (p.Val312=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002198774] Chr17:35575926 [GRCh38]
Chr17:33902945 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.915A>T (p.Pro305=) single nucleotide variant PEX12-related disorder [RCV004729088]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002081618] Chr17:35575947 [GRCh38]
Chr17:33902966 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.706C>T (p.Leu236=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002136485] Chr17:35576156 [GRCh38]
Chr17:33903175 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.681-21_681-19del deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV002141731] Chr17:35576200..35576202 [GRCh38]
Chr17:33903219..33903221 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.192T>C (p.Thr64=) single nucleotide variant PEX12-related disorder [RCV004553641]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002099648] Chr17:35577526 [GRCh38]
Chr17:33904545 [GRCh37]
Chr17:17q12		 likely benign
NC_000017.10:g.(?_33475283)_(34079869_?)dup duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV003110947] Chr17:33475283..34079869 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.51G>C (p.Gln17His) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003115313] Chr17:35577971 [GRCh38]
Chr17:33904990 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.723G>A (p.Gly241=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003115485] Chr17:35576139 [GRCh38]
Chr17:33903158 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.21C>G (p.His7Gln) single nucleotide variant Inborn genetic diseases [RCV003278118] Chr17:35578001 [GRCh38]
Chr17:33905020 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:33766040-34001896)x3 copy number gain Isolated anorectal malformation [RCV002286602] Chr17:33766040..34001896 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.437A>G (p.His146Arg) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002297431] Chr17:35577281 [GRCh38]
Chr17:33904300 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.781C>T (p.Leu261Phe) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003074058] Chr17:35576081 [GRCh38]
Chr17:33903100 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.972T>C (p.Phe324=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002816348] Chr17:35575890 [GRCh38]
Chr17:33902909 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.302A>G (p.Gln101Arg) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002775045] Chr17:35577416 [GRCh38]
Chr17:33904435 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.415G>A (p.Glu139Lys) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003073853] Chr17:35577303 [GRCh38]
Chr17:33904322 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.693G>A (p.Lys231=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002880334] Chr17:35576169 [GRCh38]
Chr17:33903188 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.66G>A (p.Glu22=) single nucleotide variant PEX12-related disorder [RCV004741367]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002994011] Chr17:35577956 [GRCh38]
Chr17:33904975 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.379A>T (p.Lys127Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002838593] Chr17:35577339 [GRCh38]
Chr17:33904358 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.966T>C (p.Tyr322=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002904499] Chr17:35575896 [GRCh38]
Chr17:33902915 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.583C>T (p.Leu195=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003034018] Chr17:35577135 [GRCh38]
Chr17:33904154 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.886C>T (p.Leu296Phe) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002756064] Chr17:35575976 [GRCh38]
Chr17:33902995 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.207_209del (p.Leu70del) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV002996551] Chr17:35577509..35577511 [GRCh38]
Chr17:33904528..33904530 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.86del (p.Ser28_Leu29insTer) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV002842557] Chr17:35577936 [GRCh38]
Chr17:33904955 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.286del (p.Asp96fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV002991867] Chr17:35577432 [GRCh38]
Chr17:33904451 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.827T>C (p.Leu276Ser) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002615070] Chr17:35576035 [GRCh38]
Chr17:33903054 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.1067C>T (p.Ser356Phe) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002750485] Chr17:35575795 [GRCh38]
Chr17:33902814 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.524T>G (p.Leu175Arg) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003032351] Chr17:35577194 [GRCh38]
Chr17:33904213 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.844C>G (p.Pro282Ala) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002996943] Chr17:35576018 [GRCh38]
Chr17:33903037 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.1051C>T (p.Leu351=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002756179] Chr17:35575811 [GRCh38]
Chr17:33902830 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.143A>T (p.Asn48Ile) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002774815] Chr17:35577575 [GRCh38]
Chr17:33904594 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.218A>G (p.His73Arg) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002751412] Chr17:35577500 [GRCh38]
Chr17:33904519 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.947T>G (p.Val316Gly) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003081352] Chr17:35575915 [GRCh38]
Chr17:33902934 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.680+8C>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002886282] Chr17:35577030 [GRCh38]
Chr17:33904049 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.921T>C (p.Cys307=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003019981] Chr17:35575941 [GRCh38]
Chr17:33902960 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.127-6C>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003003139] Chr17:35577597 [GRCh38]
Chr17:33904616 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.669del (p.Gln223fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV002797324] Chr17:35577049 [GRCh38]
Chr17:33904068 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.103C>A (p.Pro35Thr) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003077620] Chr17:35577919 [GRCh38]
Chr17:33904938 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.116A>G (p.His39Arg) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002619897] Chr17:35577906 [GRCh38]
Chr17:33904925 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.541T>C (p.Tyr181His) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002796705] Chr17:35577177 [GRCh38]
Chr17:33904196 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.220T>C (p.Tyr74His) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003079387] Chr17:35577498 [GRCh38]
Chr17:33904517 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.459del (p.Lys153fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV003053594] Chr17:35577259 [GRCh38]
Chr17:33904278 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.760G>A (p.Gly254Ser) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002736291] Chr17:35576102 [GRCh38]
Chr17:33903121 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.857T>C (p.Val286Ala) single nucleotide variant Inborn genetic diseases [RCV003052926]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV003066751] Chr17:35576005 [GRCh38]
Chr17:33903024 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.372C>G (p.Pro124=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003054233] Chr17:35577346 [GRCh38]
Chr17:33904365 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.546C>G (p.Ile182Met) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003078093] Chr17:35577172 [GRCh38]
Chr17:33904191 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.727G>A (p.Val243Ile) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003002154] Chr17:35576135 [GRCh38]
Chr17:33903154 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.939T>A (p.Asn313Lys) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002622201] Chr17:35575923 [GRCh38]
Chr17:33902942 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.680+19C>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002867279] Chr17:35577019 [GRCh38]
Chr17:33904038 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.808del (p.Gln270fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV002867852] Chr17:35576054 [GRCh38]
Chr17:33903073 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.414A>G (p.Arg138=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002706712] Chr17:35577304 [GRCh38]
Chr17:33904323 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.987G>A (p.Val329=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002658503] Chr17:35575875 [GRCh38]
Chr17:33902894 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.20_21dup (p.Phe8fs) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV002928936] Chr17:35578000..35578001 [GRCh38]
Chr17:33905019..33905020 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.348dup (p.Ile117fs) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV002667002] Chr17:35577369..35577370 [GRCh38]
Chr17:33904388..33904389 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.126+18G>A single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003008249] Chr17:35577878 [GRCh38]
Chr17:33904897 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.980G>A (p.Arg327His) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002890894] Chr17:35575882 [GRCh38]
Chr17:33902901 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.1021A>G (p.Ile341Val) single nucleotide variant PEX12-related disorder [RCV004548369]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002790217] Chr17:35575841 [GRCh38]
Chr17:33902860 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.321T>C (p.Gly107=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002872209] Chr17:35577397 [GRCh38]
Chr17:33904416 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.127-20A>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003084370] Chr17:35577611 [GRCh38]
Chr17:33904630 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.544A>C (p.Ile182Leu) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002875952] Chr17:35577174 [GRCh38]
Chr17:33904193 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.740T>C (p.Leu247Pro) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002890879] Chr17:35576122 [GRCh38]
Chr17:33903141 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.44A>C (p.Asp15Ala) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002745445] Chr17:35577978 [GRCh38]
Chr17:33904997 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.29C>T (p.Ala10Val) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002572245] Chr17:35577993 [GRCh38]
Chr17:33905012 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.675C>T (p.Ala225=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002890712] Chr17:35577043 [GRCh38]
Chr17:33904062 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.822G>C (p.Lys274Asn) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002701250] Chr17:35576040 [GRCh38]
Chr17:33903059 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.680_680+12del deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV003024618] Chr17:35577026..35577038 [GRCh38]
Chr17:33904045..33904057 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.635A>G (p.Glu212Gly) single nucleotide variant PEX12-related disorder [RCV004548400]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV002918592] Chr17:35577083 [GRCh38]
Chr17:33904102 [GRCh37]
Chr17:17q12		 likely benign|uncertain significance
NM_000286.3(PEX12):c.1024A>G (p.Thr342Ala) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002852352] Chr17:35575838 [GRCh38]
Chr17:33902857 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.535C>T (p.Leu179Phe) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002625125] Chr17:35577183 [GRCh38]
Chr17:33904202 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.238G>A (p.Ala80Thr) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002851149] Chr17:35577480 [GRCh38]
Chr17:33904499 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.33T>C (p.Ala11=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003024994] Chr17:35577989 [GRCh38]
Chr17:33905008 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.268_269del (p.Lys90fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV003006038] Chr17:35577449..35577450 [GRCh38]
Chr17:33904468..33904469 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.349A>C (p.Ile117Leu) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002627558] Chr17:35577369 [GRCh38]
Chr17:33904388 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.398T>C (p.Leu133Pro) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003044503] Chr17:35577320 [GRCh38]
Chr17:33904339 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.1025C>T (p.Thr342Ile) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002597431] Chr17:35575837 [GRCh38]
Chr17:33902856 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.531A>G (p.Gln177=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003086148] Chr17:35577187 [GRCh38]
Chr17:33904206 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.599T>C (p.Leu200Pro) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002806981] Chr17:35577119 [GRCh38]
Chr17:33904138 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.680+3A>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002857072] Chr17:35577035 [GRCh38]
Chr17:33904054 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003046219] Chr17:35577175 [GRCh38]
Chr17:33904194 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.374A>T (p.Tyr125Phe) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003026622] Chr17:35577344 [GRCh38]
Chr17:33904363 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.633G>A (p.Leu211=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002600017] Chr17:35577085 [GRCh38]
Chr17:33904104 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.936G>T (p.Val312=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002876934] Chr17:35575926 [GRCh38]
Chr17:33902945 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.428A>G (p.Tyr143Cys) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003060268] Chr17:35577290 [GRCh38]
Chr17:33904309 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.681-5A>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002934055] Chr17:35576186 [GRCh38]
Chr17:33903205 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.939T>C (p.Asn313=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002671630] Chr17:35575923 [GRCh38]
Chr17:33902942 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.875_876del (p.Asn291_Ser292insTer) microsatellite Peroxisome biogenesis disorder 3A (Zellweger) [RCV003064438] Chr17:35575986..35575987 [GRCh38]
Chr17:33903005..33903006 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.725del (p.Gly242fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV002806700] Chr17:35576137 [GRCh38]
Chr17:33903156 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.291T>G (p.Thr97=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003063059] Chr17:35577427 [GRCh38]
Chr17:33904446 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.680+12A>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003064883] Chr17:35577026 [GRCh38]
Chr17:33904045 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.641A>G (p.Lys214Arg) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002834334] Chr17:35577077 [GRCh38]
Chr17:33904096 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.872A>C (p.Asn291Thr) single nucleotide variant Inborn genetic diseases [RCV003358066]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV003066859] Chr17:35575990 [GRCh38]
Chr17:33903009 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.887del (p.Leu296fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV003050466] Chr17:35575975 [GRCh38]
Chr17:33902994 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.258T>C (p.Phe86=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003052724] Chr17:35577460 [GRCh38]
Chr17:33904479 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.979C>T (p.Arg327Cys) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003051464] Chr17:35575883 [GRCh38]
Chr17:33902902 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.541dup (p.Tyr181fs) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV002654874] Chr17:35577176..35577177 [GRCh38]
Chr17:33904195..33904196 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.886C>G (p.Leu296Val) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002605310] Chr17:35575976 [GRCh38]
Chr17:33902995 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.138A>G (p.Glu46=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003072067] Chr17:35577580 [GRCh38]
Chr17:33904599 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.124A>C (p.Lys42Gln) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002585515] Chr17:35577898 [GRCh38]
Chr17:33904917 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.233C>T (p.Thr78Ile) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003071173] Chr17:35577485 [GRCh38]
Chr17:33904504 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.727G>T (p.Val243Phe) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002653026] Chr17:35576135 [GRCh38]
Chr17:33903154 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.361G>T (p.Val121Phe) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002603354] Chr17:35577357 [GRCh38]
Chr17:33904376 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.399G>T (p.Leu133=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003092821] Chr17:35577319 [GRCh38]
Chr17:33904338 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.889T>G (p.Leu297Val) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV002634272] Chr17:35575973 [GRCh38]
Chr17:33902992 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.1003A>C (p.Ser335Arg) single nucleotide variant PEX12-related disorder [RCV004552537] Chr17:35575859 [GRCh38]
Chr17:33902878 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q11.2-12(chr17:30572862-35843988) copy number loss Chromosome 17q12 deletion syndrome [RCV003319594] Chr17:30572862..35843988 [GRCh37]
Chr17:17q11.2-12		 pathogenic
NM_000286.3(PEX12):c.211C>A (p.Gln71Lys) single nucleotide variant Inborn genetic diseases [RCV003348478] Chr17:35577507 [GRCh38]
Chr17:33904526 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.363del (p.Leu122fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV003476796] Chr17:35577355 [GRCh38]
Chr17:33904374 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:33758250-34082140)x3 copy number gain not provided [RCV003485152] Chr17:33758250..34082140 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.329dup (p.Gln111fs) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV003476799] Chr17:35577388..35577389 [GRCh38]
Chr17:33904407..33904408 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:33769812-33983362)x3 copy number gain not provided [RCV003485153] Chr17:33769812..33983362 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.876_877insTT (p.Asp293fs) insertion Peroxisome biogenesis disorder 3A (Zellweger) [RCV003476798] Chr17:35575985..35575986 [GRCh38]
Chr17:33903004..33903005 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003476800] Chr17:35577578 [GRCh38]
Chr17:33904597 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV003476797] Chr17:35577143..35577144 [GRCh38]
Chr17:33904162..33904163 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.684T>C (p.Val228=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003649706] Chr17:35576178 [GRCh38]
Chr17:33903197 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.819C>T (p.Ile273=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651581] Chr17:35576043 [GRCh38]
Chr17:33903062 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.611_612del (p.Thr204fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV003649728] Chr17:35577106..35577107 [GRCh38]
Chr17:33904125..33904126 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.83G>A (p.Ser28Asn) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653873] Chr17:35577939 [GRCh38]
Chr17:33904958 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.163T>C (p.Leu55=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653875] Chr17:35577555 [GRCh38]
Chr17:33904574 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.890T>G (p.Leu297Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653826] Chr17:35575972 [GRCh38]
Chr17:33902991 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.122del (p.Val41fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651457] Chr17:35577900 [GRCh38]
Chr17:33904919 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.1038A>G (p.Thr346=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653750] Chr17:35575824 [GRCh38]
Chr17:33902843 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.978C>T (p.Tyr326=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653680] Chr17:35575884 [GRCh38]
Chr17:33902903 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.126+1G>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003828630] Chr17:35577895 [GRCh38]
Chr17:33904914 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.498G>A (p.Val166=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003652551] Chr17:35577220 [GRCh38]
Chr17:33904239 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.564T>C (p.His188=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003652768] Chr17:35577154 [GRCh38]
Chr17:33904173 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.324C>T (p.Leu108=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003653792] Chr17:35577394 [GRCh38]
Chr17:33904413 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.105C>T (p.Pro35=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003649649] Chr17:35577917 [GRCh38]
Chr17:33904936 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.573A>G (p.Pro191=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003649719] Chr17:35577145 [GRCh38]
Chr17:33904164 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.804A>G (p.Glu268=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651074] Chr17:35576058 [GRCh38]
Chr17:33903077 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.1008C>T (p.His336=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651792] Chr17:35575854 [GRCh38]
Chr17:33902873 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.486C>T (p.Ala162=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651809] Chr17:35577232 [GRCh38]
Chr17:33904251 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.816dup (p.Ile273fs) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651116] Chr17:35576045..35576046 [GRCh38]
Chr17:33903064..33903065 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.569C>G (p.Ser190Ter) single nucleotide variant PEX12-related disorder [RCV004554281]|Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651174] Chr17:35577149 [GRCh38]
Chr17:33904168 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
NM_000286.3(PEX12):c.698dup (p.Asn233fs) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651186] Chr17:35576163..35576164 [GRCh38]
Chr17:33903182..33903183 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.455G>A (p.Trp152Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651238] Chr17:35577263 [GRCh38]
Chr17:33904282 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.829_832del (p.Thr277fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV003652366] Chr17:35576030..35576033 [GRCh38]
Chr17:33903049..33903052 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.273A>G (p.Arg91=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003649554] Chr17:35577445 [GRCh38]
Chr17:33904464 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.54A>G (p.Pro18=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003650853] Chr17:35577968 [GRCh38]
Chr17:33904987 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.963C>G (p.Gly321=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003652301] Chr17:35575899 [GRCh38]
Chr17:33902918 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.255C>T (p.Asn85=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003651005] Chr17:35577463 [GRCh38]
Chr17:33904482 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.680+11A>G single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003826714] Chr17:35577027 [GRCh38]
Chr17:33904046 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.624A>T (p.Ile208=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003649630] Chr17:35577094 [GRCh38]
Chr17:33904113 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.744T>C (p.Ser248=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536385] Chr17:35576118 [GRCh38]
Chr17:33903137 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.586G>C (p.Ala196Pro) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536777] Chr17:35577132 [GRCh38]
Chr17:33904151 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.816C>G (p.Thr272=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003535203] Chr17:35576046 [GRCh38]
Chr17:33903065 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.1065C>T (p.Tyr355=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003535346] Chr17:35575797 [GRCh38]
Chr17:33902816 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.846A>G (p.Pro282=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536060] Chr17:35576016 [GRCh38]
Chr17:33903035 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.30T>C (p.Ala10=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536100] Chr17:35577992 [GRCh38]
Chr17:33905011 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.69G>A (p.Val23=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536265] Chr17:35577953 [GRCh38]
Chr17:33904972 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.957C>G (p.Thr319=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536296] Chr17:35575905 [GRCh38]
Chr17:33902924 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.915A>C (p.Pro305=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003539304] Chr17:35575947 [GRCh38]
Chr17:33902966 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.126+17T>C single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003538304] Chr17:35577879 [GRCh38]
Chr17:33904898 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.775C>T (p.Gln259Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003535211] Chr17:35576087 [GRCh38]
Chr17:33903106 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.127-7G>T single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003535531] Chr17:35577598 [GRCh38]
Chr17:33904617 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.483A>G (p.Ala161=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003537551] Chr17:35577235 [GRCh38]
Chr17:33904254 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.462A>G (p.Arg154=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536439] Chr17:35577256 [GRCh38]
Chr17:33904275 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.27A>G (p.Thr9=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003538153] Chr17:35577995 [GRCh38]
Chr17:33905014 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.681-15_681-13del deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV003538012] Chr17:35576194..35576196 [GRCh38]
Chr17:33903213..33903215 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.945T>A (p.Thr315=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536685] Chr17:35575917 [GRCh38]
Chr17:33902936 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.207G>T (p.Leu69=) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536797] Chr17:35577511 [GRCh38]
Chr17:33904530 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.4del (p.Ala2fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV003536789] Chr17:35578018 [GRCh38]
Chr17:33905037 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.76C>T (p.Gln26Ter) single nucleotide variant Peroxisome biogenesis disorder 3A (Zellweger) [RCV003859839] Chr17:35577946 [GRCh38]
Chr17:33904965 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.-5A>G single nucleotide variant PEX12-related disorder [RCV004554383] Chr17:35578026 [GRCh38]
Chr17:33905045 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.680+6G>A single nucleotide variant PEX12-related disorder [RCV004552724] Chr17:35577032 [GRCh38]
Chr17:33904051 [GRCh37]
Chr17:17q12		 likely benign
NM_000286.3(PEX12):c.1005T>A (p.Ser335Arg) single nucleotide variant Inborn genetic diseases [RCV004498365] Chr17:35575857 [GRCh38]
Chr17:33902876 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.416A>G (p.Glu139Gly) single nucleotide variant Inborn genetic diseases [RCV004498366] Chr17:35577302 [GRCh38]
Chr17:33904321 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.622A>G (p.Ile208Val) single nucleotide variant Inborn genetic diseases [RCV004498367] Chr17:35577096 [GRCh38]
Chr17:33904115 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.301_302del (p.Gln101fs) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV004574504] Chr17:35577416..35577417 [GRCh38]
Chr17:33904435..33904436 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_000286.3(PEX12):c.220dup (p.Tyr74fs) duplication Peroxisome biogenesis disorder 3A (Zellweger) [RCV004574503] Chr17:35577497..35577498 [GRCh38]
Chr17:33904516..33904517 [GRCh37]
Chr17:17q12		 likely pathogenic
NC_000017.10:g.(?_33445500)_(34079869_?)del deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV004581340] Chr17:33445500..34079869 [GRCh37]
Chr17:17q12		 pathogenic
NM_000286.3(PEX12):c.789G>T (p.Trp263Cys) single nucleotide variant Inborn genetic diseases [RCV004659869] Chr17:35576073 [GRCh38]
Chr17:33903092 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.4_5del (p.Met1_Ala2insTer) deletion Peroxisome biogenesis disorder 3A (Zellweger) [RCV004574502] Chr17:35578017..35578018 [GRCh38]
Chr17:33905036..33905037 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22		 pathogenic
NM_000286.3(PEX12):c.790T>C (p.Trp264Arg) single nucleotide variant PEX12-related disorder [RCV004739118] Chr17:35576072 [GRCh38]
Chr17:33903091 [GRCh37]
Chr17:17q12		 uncertain significance
NM_000286.3(PEX12):c.106_107delinsAT (p.Ala36Ile) indel Peroxisome biogenesis disorder type 3B [RCV003340780] Chr17:35577915..35577916 [GRCh38]
Chr17:33904934..33904935 [GRCh37]
Chr17:17q12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:701
Count of miRNA genes:451
Interacting mature miRNAs:498
Transcripts:ENST00000225873, ENST00000585380, ENST00000586663
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
407163952GWAS812928_Herythrocyte measurement QTL GWAS812928 (human)2e-35erythrocyte measurementred blood cell measurement (CMO:0001356)173557526535575266Human
407115824GWAS764800_Hmean corpuscular volume QTL GWAS764800 (human)1e-11mean corpuscular volumemean corpuscular volume (CMO:0000038)173557526535575266Human
407389788GWAS1038764_Hobsolete_red blood cell distribution width QTL GWAS1038764 (human)5e-13obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)173557526535575266Human
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
406986868GWAS635844_Hreticulocyte measurement QTL GWAS635844 (human)2e-95reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)173557526535575266Human
406992809GWAS641785_Hreticulocyte count QTL GWAS641785 (human)4e-90reticulocyte counttotal reticulocyte count (CMO:0003020)173557526535575266Human
407099448GWAS748424_Hreticulocyte measurement QTL GWAS748424 (human)1e-62reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)173557526535575266Human
407377444GWAS1026420_Hobsolete_red blood cell distribution width QTL GWAS1026420 (human)4e-12obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)173557526535575266Human
407103853GWAS752829_Hreticulocyte count QTL GWAS752829 (human)1e-55reticulocyte counttotal reticulocyte count (CMO:0003020)173557526535575266Human

Markers in Region
D17S1445E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,902,701 - 33,902,914UniSTSGRCh37
Build 361730,926,814 - 30,927,027RGDNCBI36
Celera1730,812,836 - 30,813,049RGD
Cytogenetic Map17q12UniSTS
HuRef1730,087,681 - 30,087,894UniSTS
PEX12_376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,901,798 - 33,902,589UniSTSGRCh37
Build 361730,925,911 - 30,926,702RGDNCBI36
Celera1730,811,933 - 30,812,724RGD
HuRef1730,086,782 - 30,087,569UniSTS


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 174 1

Sequence


Ensembl Acc Id: ENST00000225873   ⟹   ENSP00000225873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,574,795 - 35,578,571 (-)Ensembl
Ensembl Acc Id: ENST00000585380   ⟹   ENSP00000466280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,577,055 - 35,578,863 (-)Ensembl
Ensembl Acc Id: ENST00000586663   ⟹   ENSP00000466894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,575,789 - 35,578,552 (-)Ensembl
Ensembl Acc Id: ENST00000613219   ⟹   ENSP00000482609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1735,574,796 - 35,578,637 (-)Ensembl
RefSeq Acc Id: NM_000286   ⟹   NP_000277
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381735,574,795 - 35,578,571 (-)NCBI
GRCh371733,901,814 - 33,905,656 (-)ENTREZGENE
Build 361730,925,928 - 30,929,687 (-)NCBI Archive
HuRef1730,086,798 - 30,090,636 (-)ENTREZGENE
CHM1_11733,966,472 - 33,970,314 (-)NCBI
T2T-CHM13v2.01736,522,734 - 36,526,512 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000277   ⟸   NM_000286
- UniProtKB: B2R6M2 (UniProtKB/Swiss-Prot),   O00623 (UniProtKB/Swiss-Prot),   A0A075B773 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000466280   ⟸   ENST00000585380
Ensembl Acc Id: ENSP00000466894   ⟸   ENST00000586663
Ensembl Acc Id: ENSP00000482609   ⟸   ENST00000613219
Ensembl Acc Id: ENSP00000225873   ⟸   ENST00000225873
Protein Domains
Pex N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00623-F1-model_v2 AlphaFold O00623 1-359 view protein structure

Promoters
RGD ID:6794418
Promoter ID:HG_KWN:25790
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:OTTHUMT00000256489
Position:
Human AssemblyChrPosition (strand)Source
Build 361730,929,596 - 30,930,462 (-)MPROMDB
RGD ID:7234651
Promoter ID:EPDNEW_H23070
Type:initiation region
Name:PEX12_1
Description:peroxisomal biogenesis factor 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381735,578,568 - 35,578,628EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8854 AgrOrtholog
COSMIC PEX12 COSMIC
Ensembl Genes ENSG00000108733 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000225873 ENTREZGENE
  ENST00000225873.9 UniProtKB/Swiss-Prot
  ENST00000585380.1 UniProtKB/TrEMBL
  ENST00000586663.2 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108733 GTEx
HGNC ID HGNC:8854 ENTREZGENE
Human Proteome Map PEX12 Human Proteome Map
InterPro PEX12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pex_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5193 UniProtKB/Swiss-Prot
NCBI Gene 5193 ENTREZGENE
OMIM 601758 OMIM
PANTHER PEROXISOME ASSEMBLY PROTEIN 12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12888 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pex2_Pex12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33196 PharmGKB
PIRSF Peroxisome_assembly_p12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075B773 ENTREZGENE, UniProtKB/TrEMBL
  A0PJ54_HUMAN UniProtKB/TrEMBL
  B2R6M2 ENTREZGENE
  K7ELY8_HUMAN UniProtKB/TrEMBL
  O00623 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R6M2 UniProtKB/Swiss-Prot