PEPD (peptidase D) - Rat Genome Database

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Gene: PEPD (peptidase D) Homo sapiens
Analyze
Symbol: PEPD
Name: peptidase D
RGD ID: 1354493
HGNC Page HGNC:8840
Description: Enables proline dipeptidase activity. Involved in negative regulation of programmed cell death and proteolysis. Located in extracellular exosome. Implicated in prolidase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: aminoacyl-L-proline hydrolase; imidodipeptidase; MGC10905; prolidase; proline dipeptidase; testicular tissue protein Li 138; X-Pro dipeptidase; xaa-Pro dipeptidase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC105021.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381933,386,950 - 33,521,791 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1933,386,950 - 33,521,823 (-)EnsemblGRCh38hg38GRCh38
GRCh371933,877,856 - 34,012,697 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361938,569,701 - 38,704,641 (-)NCBINCBI36Build 36hg18NCBI36
Build 341938,569,698 - 38,704,522NCBI
Celera1930,571,427 - 30,706,398 (-)NCBICelera
Cytogenetic Map19q13.11NCBI
HuRef1930,378,491 - 30,405,183 (-)NCBIHuRef
HuRef1930,454,304 - 30,512,607 (-)NCBIHuRef
CHM1_11933,878,802 - 34,013,898 (-)NCBICHM1_1
T2T-CHM13v2.01935,906,727 - 36,042,546 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cyproconazole  (ISO)
decabromodiphenyl ether  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisopropyl fluorophosphate  (EXP)
diuron  (ISO)
edaravone  (ISO)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
folic acid  (ISO)
genistein  (ISO)
gentamycin  (EXP)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
inulin  (ISO)
ivermectin  (EXP)
ketoconazole  (ISO)
L-ascorbic acid  (EXP)
linsidomine  (ISO)
melanins  (EXP)
menadione  (EXP)
methapyrilene  (EXP)
methoxychlor  (ISO)
methylparaben  (EXP)
microcystin-LR  (ISO)
monosodium L-glutamate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
ozone  (EXP,ISO)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenacetin  (EXP)
phenobarbital  (EXP,ISO)
propiconazole  (ISO)
rac-lactic acid  (EXP)
sarin  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
Sodium salicylate  (EXP)
Soman  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
VX nerve agent  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal hip bone morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the immune system  (IAGP)
Abnormality of the middle ear  (IAGP)
Anemia  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Arachnodactyly  (IAGP)
Asthma  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Carious teeth  (IAGP)
Childhood onset  (IAGP)
Chronic lung disease  (IAGP)
Concave nasal ridge  (IAGP)
Crusting erythematous dermatitis  (IAGP)
Cutaneous photosensitivity  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Diffuse telangiectasia  (IAGP)
Dry skin  (IAGP)
Eczematoid dermatitis  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Erythema  (IAGP)
Facial hirsutism  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Generalized hirsutism  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
High palate  (IAGP)
Hirsutism  (IAGP)
Hyperimidodipeptiduria  (IAGP)
Hyperkeratosis  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Increased circulating antibody level  (IAGP)
Intellectual disability  (IAGP)
Low anterior hairline  (IAGP)
Low posterior hairline  (IAGP)
Micrognathia  (IAGP)
Mild global developmental delay  (IAGP)
Palmoplantar keratoderma  (IAGP)
Papule  (IAGP)
Petechiae  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Prominent forehead  (IAGP)
Proptosis  (IAGP)
Pruritus  (IAGP)
Ptosis  (IAGP)
Recurrent cystitis  (IAGP)
Recurrent infections  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced bone mineral density  (IAGP)
Short nose  (IAGP)
Skin ulcer  (IAGP)
Splenomegaly  (IAGP)
Systemic lupus erythematosus  (IAGP)
Thin skin  (IAGP)
Thrombocytopenia  (IAGP)
Visual impairment  (IAGP)
White forelock  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1972707   PMID:2365824   PMID:2705457   PMID:2881880   PMID:2925654   PMID:8125298   PMID:8198124   PMID:8900231   PMID:9020526   PMID:9328822   PMID:10965990   PMID:11820613  
PMID:11840567   PMID:12384772   PMID:12477932   PMID:14702039   PMID:15302935   PMID:15309682   PMID:15489334   PMID:15878628   PMID:16097034   PMID:16713569   PMID:16999949   PMID:17081196  
PMID:17096092   PMID:17142620   PMID:17377743   PMID:17570078   PMID:17604013   PMID:17999410   PMID:18202846   PMID:18330356   PMID:18387361   PMID:18514097   PMID:18550075   PMID:18607169  
PMID:18989777   PMID:19056867   PMID:19263194   PMID:19401414   PMID:19823062   PMID:20087956   PMID:20383038   PMID:20437180   PMID:20486204   PMID:20626024   PMID:20868675   PMID:21044950  
PMID:21145461   PMID:21304409   PMID:21722016   PMID:21873635   PMID:21988832   PMID:22158537   PMID:22185542   PMID:22245250   PMID:22258852   PMID:22479202   PMID:22581228   PMID:22658674  
PMID:22811354   PMID:22863883   PMID:22999980   PMID:23163753   PMID:23171426   PMID:23212918   PMID:23242638   PMID:23287645   PMID:23376485   PMID:23457135   PMID:23516557   PMID:23533145  
PMID:23549681   PMID:23553128   PMID:24065222   PMID:24097068   PMID:24105470   PMID:24225260   PMID:24484408   PMID:24612543   PMID:24810047   PMID:25031340   PMID:25120796   PMID:25544563  
PMID:25842545   PMID:25994092   PMID:26078578   PMID:26087900   PMID:26110198   PMID:26159719   PMID:26344197   PMID:26509313   PMID:26870880   PMID:27320745   PMID:27387023   PMID:27443556  
PMID:28462712   PMID:28534076   PMID:28611215   PMID:28677335   PMID:28867357   PMID:29053956   PMID:29233996   PMID:29668362   PMID:29873502   PMID:30796241   PMID:30948266   PMID:31091453  
PMID:32598484   PMID:32614325   PMID:32734598   PMID:32814053   PMID:33477820   PMID:33477899   PMID:33916271   PMID:34880421   PMID:35165443   PMID:35831314   PMID:35987950   PMID:36215168  
PMID:36521400   PMID:36543142   PMID:36591822   PMID:36634849   PMID:38113892   PMID:38159857  


Genomics

Comparative Map Data
PEPD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381933,386,950 - 33,521,791 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1933,386,950 - 33,521,823 (-)EnsemblGRCh38hg38GRCh38
GRCh371933,877,856 - 34,012,697 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361938,569,701 - 38,704,641 (-)NCBINCBI36Build 36hg18NCBI36
Build 341938,569,698 - 38,704,522NCBI
Celera1930,571,427 - 30,706,398 (-)NCBICelera
Cytogenetic Map19q13.11NCBI
HuRef1930,378,491 - 30,405,183 (-)NCBIHuRef
HuRef1930,454,304 - 30,512,607 (-)NCBIHuRef
CHM1_11933,878,802 - 34,013,898 (-)NCBICHM1_1
T2T-CHM13v2.01935,906,727 - 36,042,546 (-)NCBIT2T-CHM13v2.0
Pepd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39734,611,832 - 34,744,131 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl734,611,804 - 34,744,133 (+)EnsemblGRCm39 Ensembl
GRCm38734,912,407 - 35,044,708 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl734,912,379 - 35,044,708 (+)EnsemblGRCm38mm10GRCm38
MGSCv37735,697,426 - 35,829,727 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36734,615,661 - 34,753,468 (+)NCBIMGSCv36mm8
Celera730,044,756 - 30,180,582 (+)NCBICelera
Cytogenetic Map7B2NCBI
cM Map720.7NCBI
Pepd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8196,673,624 - 96,818,197 (+)NCBIGRCr8
mRatBN7.2187,536,650 - 87,681,233 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl187,536,609 - 87,681,231 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx192,940,383 - 93,078,987 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01101,406,381 - 101,544,973 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0194,698,696 - 94,837,286 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0190,820,670 - 91,285,128 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0191,957,678 - 92,027,178 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0191,925,878 - 91,947,641 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0192,392,882 - 92,416,063 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4187,421,576 - 87,547,908 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera181,897,703 - 82,034,192 (+)NCBICelera
Cytogenetic Map1q21NCBI
Pepd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554683,146,521 - 3,277,294 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554683,147,871 - 3,277,294 (-)NCBIChiLan1.0ChiLan1.0
PEPD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22039,358,731 - 39,499,776 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11941,358,772 - 41,499,812 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01930,309,243 - 30,450,279 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11939,053,917 - 39,193,991 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1939,053,917 - 39,193,991 (-)Ensemblpanpan1.1panPan2
PEPD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11118,662,560 - 118,773,193 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1118,662,626 - 118,773,153 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1118,064,464 - 118,174,177 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01119,262,216 - 119,371,684 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1119,262,261 - 119,371,682 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11118,822,660 - 118,932,372 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01118,449,147 - 118,558,880 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01119,508,173 - 119,617,551 (+)NCBIUU_Cfam_GSD_1.0
Pepd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093499,214,005 - 9,329,959 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365702,315,954 - 2,431,884 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365702,315,981 - 2,431,878 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PEPD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl643,177,062 - 43,290,369 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1643,177,063 - 43,290,389 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2638,845,166 - 38,936,198 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PEPD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1628,427,940 - 28,562,554 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl628,427,912 - 28,553,316 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660736,152,349 - 6,294,720 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pepd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247949,602,487 - 9,724,260 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247949,602,497 - 9,724,260 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PEPD
721 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000285.3(PEPD):c.1153_1344del (p.Gly385_Gly448del) deletion Prolidase deficiency [RCV000000233] Chr19:33387848..33388618 [GRCh38]
Chr19:33878754..33879524 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.3(PEPD):c.691_693delTAC (p.Tyr231del) deletion Prolidase deficiency [RCV000000234] Chr19:33413622..33413624 [GRCh38]
Chr19:33904528..33904530 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.1356GGA[1] (p.Glu453del) microsatellite Prolidase deficiency [RCV000000238]|not provided [RCV001851506] Chr19:33387465..33387467 [GRCh38]
Chr19:33878371..33878373 [GRCh37]
Chr19:19q13.11		 pathogenic|uncertain significance
NM_000285.4(PEPD):c.611_623dup (p.Glu208_Val209insGlyProProTer) duplication Prolidase deficiency [RCV000000241]|not provided [RCV003555877] Chr19:33463987..33463988 [GRCh38]
Chr19:33954893..33954894 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.826G>A (p.Asp276Asn) single nucleotide variant Prolidase deficiency [RCV000000232]|not provided [RCV000520088] Chr19:33401862 [GRCh38]
Chr19:33892768 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
NM_000285.4(PEPD):c.551G>A (p.Arg184Gln) single nucleotide variant Prolidase deficiency [RCV000000235]|not provided [RCV003555875] Chr19:33464060 [GRCh38]
Chr19:33954966 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
NM_000285.4(PEPD):c.833G>A (p.Gly278Asp) single nucleotide variant Prolidase deficiency [RCV000000236]|not provided [RCV002512597] Chr19:33401855 [GRCh38]
Chr19:33892761 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) single nucleotide variant Prolidase deficiency [RCV000000237]|not provided [RCV002512598] Chr19:33387892 [GRCh38]
Chr19:33878798 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
NM_000285.4(PEPD):c.793C>T (p.Arg265Ter) single nucleotide variant Prolidase deficiency [RCV000000239]|not provided [RCV003555876] Chr19:33411697 [GRCh38]
Chr19:33902603 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.1234G>A (p.Glu412Lys) single nucleotide variant Prolidase deficiency [RCV000000240] Chr19:33388000 [GRCh38]
Chr19:33878906 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.605C>T (p.Ser202Phe) single nucleotide variant Prolidase deficiency [RCV000000242] Chr19:33464006 [GRCh38]
Chr19:33954912 [GRCh37]
Chr19:19q13.11		 pathogenic
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1 copy number loss See cases [RCV000141865] Chr19:31367353..35417098 [GRCh38]
Chr19:31858259..35908000 [GRCh37]
Chr19:36550099..40599840 [NCBI36]
Chr19:19q12-13.12		 pathogenic
GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3 copy number gain See cases [RCV000143705] Chr19:27780238..34783942 [GRCh38]
Chr19:28271146..35274846 [GRCh37]
Chr19:32962986..39966686 [NCBI36]
Chr19:19q11-13.11		 uncertain significance
NM_000285.4(PEPD):c.634G>C (p.Ala212Pro) single nucleotide variant Prolidase deficiency [RCV000195145]|not provided [RCV002517036] Chr19:33463032 [GRCh38]
Chr19:33953938 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic|not provided
NM_000285.4(PEPD):c.1103T>G (p.Leu368Arg) single nucleotide variant Prolidase deficiency [RCV000194259]|not provided [RCV003556241] Chr19:33391344 [GRCh38]
Chr19:33882250 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic|not provided
NM_000285.4(PEPD):c.1045G>A (p.Gly349Ser) single nucleotide variant Inborn genetic diseases [RCV002521206]|Prolidase deficiency [RCV000300960]|not provided [RCV001850752] Chr19:33391402 [GRCh38]
Chr19:33882308 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.1163G>A (p.Arg388His) single nucleotide variant Prolidase deficiency [RCV000284801]|not provided [RCV000514422] Chr19:33388071 [GRCh38]
Chr19:33878977 [GRCh37]
Chr19:19q13.11		 benign|likely benign
NM_000285.4(PEPD):c.1131C>T (p.His377=) single nucleotide variant Prolidase deficiency [RCV000285859]|not provided [RCV001514099]|not specified [RCV000456000] Chr19:33391316 [GRCh38]
Chr19:33882222 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.*155G>A single nucleotide variant Prolidase deficiency [RCV000291589] Chr19:33387189 [GRCh38]
Chr19:33878095 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1309C>T (p.Arg437Cys) single nucleotide variant Prolidase deficiency [RCV000276860]|not provided [RCV001850750] Chr19:33387925 [GRCh38]
Chr19:33878831 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1329T>C (p.Phe443=) single nucleotide variant Prolidase deficiency [RCV000262030]|not provided [RCV002057494] Chr19:33387905 [GRCh38]
Chr19:33878811 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.3(PEPD):c.-38T>C single nucleotide variant Prolidase deficiency [RCV000366175] Chr19:33521798 [GRCh38]
Chr19:34012704 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1291C>T (p.Arg431Cys) single nucleotide variant Prolidase deficiency [RCV000268810]|not provided [RCV002521203] Chr19:33387943 [GRCh38]
Chr19:33878849 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.744T>C (p.Gly248=) single nucleotide variant Prolidase deficiency [RCV000308288]|not provided [RCV001518432] Chr19:33411746 [GRCh38]
Chr19:33902652 [GRCh37]
Chr19:19q13.11		 benign|likely benign
NM_000285.4(PEPD):c.1345-11G>C single nucleotide variant Prolidase deficiency [RCV000356743]|not provided [RCV002057493] Chr19:33387492 [GRCh38]
Chr19:33878398 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.1470T>C (p.Ser490=) single nucleotide variant PEPD-related condition [RCV003940309]|Prolidase deficiency [RCV000360329]|not provided [RCV002057491] Chr19:33387356 [GRCh38]
Chr19:33878262 [GRCh37]
Chr19:19q13.11		 benign|likely benign|uncertain significance
NM_000285.4(PEPD):c.504-9G>A single nucleotide variant Prolidase deficiency [RCV000322593]|not provided [RCV001522941] Chr19:33478099 [GRCh38]
Chr19:33969005 [GRCh37]
Chr19:19q13.11		 benign|likely benign|uncertain significance
NM_000285.4(PEPD):c.*211T>C single nucleotide variant Prolidase deficiency [RCV000345399]|not provided [RCV001683320] Chr19:33387133 [GRCh38]
Chr19:33878039 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.-5C>T single nucleotide variant Prolidase deficiency [RCV000394199] Chr19:33521765 [GRCh38]
Chr19:34012671 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.710G>A (p.Arg237His) single nucleotide variant Prolidase deficiency [RCV000363008]|not provided [RCV001850754] Chr19:33413605 [GRCh38]
Chr19:33904511 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.819-4G>A single nucleotide variant Prolidase deficiency [RCV000371406]|not provided [RCV003556344] Chr19:33401873 [GRCh38]
Chr19:33892779 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.946G>A (p.Val316Ile) single nucleotide variant Prolidase deficiency [RCV000396076]|not provided [RCV001850753] Chr19:33401742 [GRCh38]
Chr19:33892648 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.751T>A (p.Ser251Thr) single nucleotide variant Prolidase deficiency [RCV000276809]|not provided [RCV001320938] Chr19:33411739 [GRCh38]
Chr19:33902645 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.462C>T (p.Ser154=) single nucleotide variant Prolidase deficiency [RCV000278216]|not provided [RCV002523059] Chr19:33490037 [GRCh38]
Chr19:33980943 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.259G>A (p.Asp87Asn) single nucleotide variant Prolidase deficiency [RCV000315182]|not provided [RCV000884956] Chr19:33511098 [GRCh38]
Chr19:34002004 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.1311C>T (p.Arg437=) single nucleotide variant Prolidase deficiency [RCV000366808]|not provided [RCV001859936] Chr19:33387923 [GRCh38]
Chr19:33878829 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.*333_*337dup duplication Prolidase deficiency [RCV000295185] Chr19:33387006..33387007 [GRCh38]
Chr19:33877912..33877913 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.492C>T (p.Asp164=) single nucleotide variant PEPD-related condition [RCV003969936]|Prolidase deficiency [RCV000372612]|not provided [RCV002057498] Chr19:33490007 [GRCh38]
Chr19:33980913 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.427G>A (p.Val143Ile) single nucleotide variant Prolidase deficiency [RCV000348554]|not provided [RCV002521207] Chr19:33493304 [GRCh38]
Chr19:33984210 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.448G>A (p.Val150Ile) single nucleotide variant Prolidase deficiency [RCV000373989] Chr19:33490051 [GRCh38]
Chr19:33980957 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.660T>C (p.Tyr220=) single nucleotide variant Prolidase deficiency [RCV000376172]|not provided [RCV001522110]|not specified [RCV000455003] Chr19:33463006 [GRCh38]
Chr19:33953912 [GRCh37]
Chr19:19q13.11		 benign|likely benign
NM_000285.4(PEPD):c.1281G>A (p.Ala427=) single nucleotide variant Prolidase deficiency [RCV000328676]|not provided [RCV001393146] Chr19:33387953 [GRCh38]
Chr19:33878859 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.-30C>G single nucleotide variant Prolidase deficiency [RCV000309277] Chr19:33521790 [GRCh38]
Chr19:34012696 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1317C>T (p.Val439=) single nucleotide variant Prolidase deficiency [RCV000330861]|not provided [RCV001516737] Chr19:33387917 [GRCh38]
Chr19:33878823 [GRCh37]
Chr19:19q13.11		 benign|uncertain significance
NM_000285.4(PEPD):c.1303C>T (p.Leu435Phe) single nucleotide variant Prolidase deficiency [RCV000331961]|not provided [RCV001512813]|not specified [RCV000440891] Chr19:33387931 [GRCh38]
Chr19:33878837 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.3(PEPD):c.-61A>G single nucleotide variant Prolidase deficiency [RCV000264609] Chr19:33521821 [GRCh38]
Chr19:34012727 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.834C>T (p.Gly278=) single nucleotide variant Prolidase deficiency [RCV000311932]|not provided [RCV000957947] Chr19:33401854 [GRCh38]
Chr19:33892760 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.1292G>A (p.Arg431His) single nucleotide variant Prolidase deficiency [RCV000382064]|not provided [RCV001850751] Chr19:33387942 [GRCh38]
Chr19:33878848 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.279G>A (p.Ser93=) single nucleotide variant Prolidase deficiency [RCV000406193]|not provided [RCV000916064] Chr19:33511078 [GRCh38]
Chr19:34001984 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.447C>T (p.Gly149=) single nucleotide variant Prolidase deficiency [RCV000293585]|not provided [RCV000879105] Chr19:33490052 [GRCh38]
Chr19:33980958 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.967+10G>A single nucleotide variant Prolidase deficiency [RCV000337247]|not provided [RCV003718196] Chr19:33401711 [GRCh38]
Chr19:33892617 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.456G>A (p.Thr152=) single nucleotide variant Prolidase deficiency [RCV000337916]|not provided [RCV000970561] Chr19:33490043 [GRCh38]
Chr19:33980949 [GRCh37]
Chr19:19q13.11		 benign|likely benign|uncertain significance
NM_000285.4(PEPD):c.*175_*178dup duplication Prolidase deficiency [RCV000403368]|not provided [RCV001653597] Chr19:33387165..33387166 [GRCh38]
Chr19:33878071..33878072 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.1098C>T (p.His366=) single nucleotide variant PEPD-related condition [RCV003940310]|Prolidase deficiency [RCV000336127]|not provided [RCV000967723] Chr19:33391349 [GRCh38]
Chr19:33882255 [GRCh37]
Chr19:19q13.11		 benign|likely benign|uncertain significance
NM_000285.4(PEPD):c.1385T>C (p.Ile462Thr) single nucleotide variant Prolidase deficiency [RCV000397948]|not provided [RCV002057492] Chr19:33387441 [GRCh38]
Chr19:33878347 [GRCh37]
Chr19:19q13.11		 benign|likely benign|uncertain significance
NM_000285.4(PEPD):c.1365C>T (p.Val455=) single nucleotide variant Prolidase deficiency [RCV000297200] Chr19:33387461 [GRCh38]
Chr19:33878367 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.-1C>T single nucleotide variant Prolidase deficiency [RCV000344339] Chr19:33521761 [GRCh38]
Chr19:34012667 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1094C>T (p.Pro365Leu) single nucleotide variant Inborn genetic diseases [RCV002521204]|Prolidase deficiency [RCV000403163]|not provided [RCV002521205] Chr19:33391353 [GRCh38]
Chr19:33882259 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.*53C>T single nucleotide variant Prolidase deficiency [RCV000340578] Chr19:33387291 [GRCh38]
Chr19:33878197 [GRCh37]
Chr19:19q13.11		 benign|likely benign
NM_000285.4(PEPD):c.*52T>C single nucleotide variant Prolidase deficiency [RCV000405281]|not provided [RCV001653598]|not specified [RCV003401344] Chr19:33387292 [GRCh38]
Chr19:33878198 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.624+15G>A single nucleotide variant Prolidase deficiency [RCV000267607]|not provided [RCV002057497] Chr19:33463972 [GRCh38]
Chr19:33954878 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.*40T>A single nucleotide variant Prolidase deficiency [RCV000305636] Chr19:33387304 [GRCh38]
Chr19:33878210 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1153-6C>T single nucleotide variant Prolidase deficiency [RCV000380467]|not provided [RCV002057495] Chr19:33388087 [GRCh38]
Chr19:33878993 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.3(PEPD):c.-130T>C single nucleotide variant Prolidase deficiency [RCV000303209] Chr19:33521890 [GRCh38]
Chr19:34012796 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1171G>A (p.Glu391Lys) single nucleotide variant Prolidase deficiency [RCV000383203] Chr19:33388063 [GRCh38]
Chr19:33878969 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.*336_*339dup duplication Prolidase deficiency [RCV000389219] Chr19:33387004..33387005 [GRCh38]
Chr19:33877910..33877911 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1156G>A (p.Val386Met) single nucleotide variant Prolidase deficiency [RCV000339838]|not provided [RCV001859937] Chr19:33388078 [GRCh38]
Chr19:33878984 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.692_694del (p.Tyr231del) deletion Prolidase deficiency [RCV000273249]|not provided [RCV000986209] Chr19:33413621..33413623 [GRCh38]
Chr19:33904527..33904529 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000285.4(PEPD):c.672-9C>G single nucleotide variant Prolidase deficiency [RCV000328291]|not provided [RCV002057496] Chr19:33413652 [GRCh38]
Chr19:33904558 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.104G>A (p.Arg35Gln) single nucleotide variant Prolidase deficiency [RCV001127105]|not provided [RCV000732597] Chr19:33512690 [GRCh38]
Chr19:34003596 [GRCh37]
Chr19:19q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_000285.4(PEPD):c.969T>C (p.Gly323=) single nucleotide variant not provided [RCV000732598] Chr19:33391478 [GRCh38]
Chr19:33882384 [GRCh37]
Chr19:19q13.11		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3 copy number gain See cases [RCV000448231] Chr19:30735448..36120396 [GRCh37]
Chr19:19q12-13.12		 pathogenic
NM_000285.4(PEPD):c.393+4G>A single nucleotide variant Prolidase deficiency [RCV000626142] Chr19:33500934 [GRCh38]
Chr19:33991840 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19q13.11(chr19:33762256-34353184)x1 copy number loss See cases [RCV000512303] Chr19:33762256..34353184 [GRCh37]
Chr19:19q13.11		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_000285.4(PEPD):c.441+146A>G single nucleotide variant not provided [RCV001691537] Chr19:33493144 [GRCh38]
Chr19:33984050 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.1256A>G (p.Asp419Gly) single nucleotide variant Prolidase deficiency [RCV001126610]|not provided [RCV000963527] Chr19:33387978 [GRCh38]
Chr19:33878884 [GRCh37]
Chr19:19q13.11		 benign|likely benign
NM_000285.4(PEPD):c.977G>A (p.Trp326Ter) single nucleotide variant not provided [RCV000760509] Chr19:33391470 [GRCh38]
Chr19:33882376 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
NM_000285.4(PEPD):c.504-1G>A single nucleotide variant Prolidase deficiency [RCV000991408]|not provided [RCV001869367] Chr19:33478091 [GRCh38]
Chr19:33968997 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.1345-1G>A single nucleotide variant not provided [RCV000996828] Chr19:33387482 [GRCh38]
Chr19:33878388 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.1325G>A (p.Arg442His) single nucleotide variant not provided [RCV000900479] Chr19:33387909 [GRCh38]
Chr19:33878815 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.984C>T (p.Asp328=) single nucleotide variant not provided [RCV000901894] Chr19:33391463 [GRCh38]
Chr19:33882369 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.794G>A (p.Arg265Gln) single nucleotide variant not provided [RCV000971318] Chr19:33411696 [GRCh38]
Chr19:33902602 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.126C>G (p.Ala42=) single nucleotide variant not provided [RCV000983362] Chr19:33512668 [GRCh38]
Chr19:34003574 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.504-10C>T single nucleotide variant not provided [RCV000901303] Chr19:33478100 [GRCh38]
Chr19:33969006 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.34G>A (p.Gly12Arg) single nucleotide variant not provided [RCV000880323] Chr19:33512760 [GRCh38]
Chr19:34003666 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.549-1G>A single nucleotide variant Prolidase deficiency [RCV000995831]|not provided [RCV001858822] Chr19:33464063 [GRCh38]
Chr19:33954969 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.540del (p.Ile180fs) deletion Prolidase deficiency [RCV000995832] Chr19:33478054 [GRCh38]
Chr19:33968960 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.394-9A>T single nucleotide variant not provided [RCV000920600] Chr19:33493346 [GRCh38]
Chr19:33984252 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.548+8C>T single nucleotide variant not provided [RCV000926327] Chr19:33478038 [GRCh38]
Chr19:33968944 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.509A>T (p.Glu170Val) single nucleotide variant PEPD-related condition [RCV003918569]|not provided [RCV000974744] Chr19:33478085 [GRCh38]
Chr19:33968991 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.442C>T (p.Arg148Cys) single nucleotide variant PEPD-related condition [RCV003918570]|not provided [RCV000974745] Chr19:33490057 [GRCh38]
Chr19:33980963 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.100C>T (p.Leu34=) single nucleotide variant Prolidase deficiency [RCV001127106]|not provided [RCV000970775] Chr19:33512694 [GRCh38]
Chr19:34003600 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.1296C>G (p.Ala432=) single nucleotide variant not provided [RCV000922621] Chr19:33387938 [GRCh38]
Chr19:33878844 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.594C>T (p.Thr198=) single nucleotide variant not provided [RCV000928122] Chr19:33464017 [GRCh38]
Chr19:33954923 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.672-8C>G single nucleotide variant not provided [RCV000933031] Chr19:33413651 [GRCh38]
Chr19:33904557 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.863T>C (p.Ile288Thr) single nucleotide variant PEPD-related condition [RCV003926186]|Prolidase deficiency [RCV001122979]|not provided [RCV000962679]|not specified [RCV001701268] Chr19:33401825 [GRCh38]
Chr19:33892731 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.810G>A (p.Gly270=) single nucleotide variant PEPD-related condition [RCV003902845]|not provided [RCV000908851] Chr19:33411680 [GRCh38]
Chr19:33902586 [GRCh37]
Chr19:19q13.11		 benign|likely benign
NM_000285.4(PEPD):c.1442G>T (p.Gly481Val) single nucleotide variant not provided [RCV000895890] Chr19:33387384 [GRCh38]
Chr19:33878290 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.393+10C>T single nucleotide variant not provided [RCV000893062] Chr19:33500928 [GRCh38]
Chr19:33991834 [GRCh37]
Chr19:19q13.11		 likely benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
GRCh37/hg19 19q13.11(chr19:33963521-33975799)x1 copy number loss not provided [RCV000847057] Chr19:33963521..33975799 [GRCh37]
Chr19:19q13.11		 pathogenic
GRCh37/hg19 19q13.11(chr19:33842279-33986911)x3 copy number gain not provided [RCV000847761] Chr19:33842279..33986911 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.331A>T (p.Ile111Phe) single nucleotide variant Prolidase deficiency [RCV001127103] Chr19:33501000 [GRCh38]
Chr19:33991906 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1134C>T (p.Asp378=) single nucleotide variant Prolidase deficiency [RCV001128665]|not provided [RCV001509866] Chr19:33391313 [GRCh38]
Chr19:33882219 [GRCh37]
Chr19:19q13.11		 benign|uncertain significance
NM_000285.4(PEPD):c.757G>A (p.Val253Met) single nucleotide variant Prolidase deficiency [RCV001122980]|not provided [RCV002556653] Chr19:33411733 [GRCh38]
Chr19:33902639 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.402C>T (p.Ser134=) single nucleotide variant Prolidase deficiency [RCV001126707]|not provided [RCV002070072] Chr19:33493329 [GRCh38]
Chr19:33984235 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.796A>G (p.Thr266Ala) single nucleotide variant not provided [RCV001570245] Chr19:33411694 [GRCh38]
Chr19:33902600 [GRCh37]
Chr19:19q13.11		 uncertain significance
NC_000019.9:g.(?_33167170)_(36643309_?)dup duplication Hereditary spastic paraplegia 75 [RCV003107659] Chr19:33167170..36643309 [GRCh37]
Chr19:19q13.11-13.12		 uncertain significance
NM_000285.4(PEPD):c.967+218G>A single nucleotide variant not provided [RCV001621274] Chr19:33401503 [GRCh38]
Chr19:33892409 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.967+146G>A single nucleotide variant not provided [RCV001695919] Chr19:33401575 [GRCh38]
Chr19:33892481 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.624+176G>A single nucleotide variant not provided [RCV001721614] Chr19:33463811 [GRCh38]
Chr19:33954717 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.442-30G>A single nucleotide variant not provided [RCV001684703] Chr19:33490087 [GRCh38]
Chr19:33980993 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.201+244A>G single nucleotide variant not provided [RCV001644040] Chr19:33512349 [GRCh38]
Chr19:34003255 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.442-91C>A single nucleotide variant not provided [RCV001621457] Chr19:33490148 [GRCh38]
Chr19:33981054 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.741-154T>C single nucleotide variant not provided [RCV001710943] Chr19:33411903 [GRCh38]
Chr19:33902809 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.819-233T>C single nucleotide variant not provided [RCV001687764] Chr19:33402102 [GRCh38]
Chr19:33893008 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr) single nucleotide variant PEPD-related condition [RCV003905968]|Prolidase deficiency [RCV001126609]|not provided [RCV000969162]|not specified [RCV001726400] Chr19:33387940 [GRCh38]
Chr19:33878846 [GRCh37]
Chr19:19q13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000285.4(PEPD):c.625-9G>A single nucleotide variant not provided [RCV000908296] Chr19:33463050 [GRCh38]
Chr19:33953956 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.393G>A (p.Glu131=) single nucleotide variant Prolidase deficiency [RCV001127102]|not provided [RCV002556775] Chr19:33500938 [GRCh38]
Chr19:33991844 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1125C>T (p.Asp375=) single nucleotide variant Prolidase deficiency [RCV001128666]|not provided [RCV001702581] Chr19:33391322 [GRCh38]
Chr19:33882228 [GRCh37]
Chr19:19q13.11		 benign|likely benign|uncertain significance
NM_000285.4(PEPD):c.968-241A>G single nucleotide variant not provided [RCV001530588] Chr19:33391720 [GRCh38]
Chr19:33882626 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.672-235C>T single nucleotide variant not provided [RCV001656895] Chr19:33413878 [GRCh38]
Chr19:33904784 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.740+127C>T single nucleotide variant not provided [RCV001677273] Chr19:33413448 [GRCh38]
Chr19:33904354 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.549-232G>C single nucleotide variant not provided [RCV001639038] Chr19:33464294 [GRCh38]
Chr19:33955200 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.671+101C>T single nucleotide variant not provided [RCV001597636] Chr19:33462894 [GRCh38]
Chr19:33953800 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.18-264T>G single nucleotide variant not provided [RCV001688549] Chr19:33513040 [GRCh38]
Chr19:34003946 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.624+120A>T single nucleotide variant not provided [RCV001678366] Chr19:33463867 [GRCh38]
Chr19:33954773 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.672-280C>T single nucleotide variant not provided [RCV001654108] Chr19:33413923 [GRCh38]
Chr19:33904829 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.968-267T>C single nucleotide variant not provided [RCV001698530] Chr19:33391746 [GRCh38]
Chr19:33882652 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.393+222A>T single nucleotide variant not provided [RCV001678454] Chr19:33500716 [GRCh38]
Chr19:33991622 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.740+165C>A single nucleotide variant not provided [RCV001649803] Chr19:33413410 [GRCh38]
Chr19:33904316 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.1344+13G>A single nucleotide variant Prolidase deficiency [RCV001123938]|not provided [RCV002070022] Chr19:33387877 [GRCh38]
Chr19:33878783 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.202-7G>A single nucleotide variant Prolidase deficiency [RCV001127104]|not provided [RCV002070078] Chr19:33511162 [GRCh38]
Chr19:34002068 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.*96G>A single nucleotide variant Prolidase deficiency [RCV001122855] Chr19:33387248 [GRCh38]
Chr19:33878154 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1079G>A (p.Gly360Glu) single nucleotide variant Prolidase deficiency [RCV001122978]|not provided [RCV001361818] Chr19:33391368 [GRCh38]
Chr19:33882274 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1414G>A (p.Val472Met) single nucleotide variant Prolidase deficiency [RCV001122856]|not provided [RCV001856622] Chr19:33387412 [GRCh38]
Chr19:33878318 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1353C>T (p.Ile451=) single nucleotide variant Prolidase deficiency [RCV001123937]|not provided [RCV003769198] Chr19:33387473 [GRCh38]
Chr19:33878379 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.1324C>T (p.Arg442Cys) single nucleotide variant Global developmental delay [RCV001256086]|Prolidase deficiency [RCV001123939]|not provided [RCV001551593] Chr19:33387910 [GRCh38]
Chr19:33878816 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.*275C>G single nucleotide variant Prolidase deficiency [RCV001128557] Chr19:33387069 [GRCh38]
Chr19:33877975 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.*225T>A single nucleotide variant Prolidase deficiency [RCV001128558] Chr19:33387119 [GRCh38]
Chr19:33878025 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.201+125C>T single nucleotide variant not provided [RCV001672353] Chr19:33512468 [GRCh38]
Chr19:34003374 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.1184G>A (p.Arg395Gln) single nucleotide variant Prolidase deficiency [RCV001126611]|not provided [RCV001856657] Chr19:33388050 [GRCh38]
Chr19:33878956 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.736G>A (p.Gly246Ser) single nucleotide variant Prolidase deficiency [RCV001124046] Chr19:33413579 [GRCh38]
Chr19:33904485 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.*127T>C single nucleotide variant Prolidase deficiency [RCV001122854] Chr19:33387217 [GRCh38]
Chr19:33878123 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.678C>T (p.Phe226=) single nucleotide variant Prolidase deficiency [RCV001124047]|not provided [RCV002556685] Chr19:33413637 [GRCh38]
Chr19:33904543 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.62C>T (p.Ala21Val) single nucleotide variant not provided [RCV001348675] Chr19:33512732 [GRCh38]
Chr19:34003638 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.152G>A (p.Gly51Glu) single nucleotide variant not provided [RCV001341595] Chr19:33512642 [GRCh38]
Chr19:34003548 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1152+237C>A single nucleotide variant not provided [RCV001536869] Chr19:33391058 [GRCh38]
Chr19:33881964 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.441+1G>A single nucleotide variant not provided [RCV002606413] Chr19:33493289 [GRCh38]
Chr19:33984195 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
NM_000285.4(PEPD):c.778G>A (p.Gly260Arg) single nucleotide variant Prolidase deficiency [RCV003130258]|not provided [RCV001313430] Chr19:33411712 [GRCh38]
Chr19:33902618 [GRCh37]
Chr19:19q13.11		 uncertain significance
NC_000019.10:g.33522235G>A single nucleotide variant not provided [RCV001643258] Chr19:33522235 [GRCh38]
Chr19:34013141 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.895A>T (p.Thr299Ser) single nucleotide variant not provided [RCV001299964] Chr19:33401793 [GRCh38]
Chr19:33892699 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1254C>G (p.Ile418Met) single nucleotide variant not provided [RCV001371729] Chr19:33387980 [GRCh38]
Chr19:33878886 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1409G>A (p.Arg470His) single nucleotide variant Inborn genetic diseases [RCV002543216]|not provided [RCV001307961] Chr19:33387417 [GRCh38]
Chr19:33878323 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.913G>A (p.Val305Ile) single nucleotide variant not provided [RCV001340083] Chr19:33401775 [GRCh38]
Chr19:33892681 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.376G>A (p.Val126Ile) single nucleotide variant Prolidase deficiency [RCV001329775]|not provided [RCV001859266] Chr19:33500955 [GRCh38]
Chr19:33991861 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.385G>A (p.Val129Ile) single nucleotide variant not provided [RCV001326452] Chr19:33500946 [GRCh38]
Chr19:33991852 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1331G>A (p.Arg444His) single nucleotide variant not provided [RCV001352070] Chr19:33387903 [GRCh38]
Chr19:33878809 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.16G>C (p.Gly6Arg) single nucleotide variant not provided [RCV001369711] Chr19:33521745 [GRCh38]
Chr19:34012651 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.57G>A (p.Pro19=) single nucleotide variant not provided [RCV001413601] Chr19:33512737 [GRCh38]
Chr19:34003643 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.624+16G>A single nucleotide variant not provided [RCV001516115] Chr19:33463971 [GRCh38]
Chr19:33954877 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.202-16C>T single nucleotide variant not provided [RCV001488701] Chr19:33511171 [GRCh38]
Chr19:34002077 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1311C>A (p.Arg437=) single nucleotide variant not provided [RCV001449533] Chr19:33387923 [GRCh38]
Chr19:33878829 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.330-189G>A single nucleotide variant not provided [RCV001534290] Chr19:33501190 [GRCh38]
Chr19:33992096 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.740+7G>A single nucleotide variant not provided [RCV001402012] Chr19:33413568 [GRCh38]
Chr19:33904474 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.625-6C>T single nucleotide variant not provided [RCV001481739] Chr19:33463047 [GRCh38]
Chr19:33953953 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.671+158T>C single nucleotide variant not provided [RCV001715127] Chr19:33462837 [GRCh38]
Chr19:33953743 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.18-30G>A single nucleotide variant not provided [RCV001688066] Chr19:33512806 [GRCh38]
Chr19:34003712 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.548+237A>G single nucleotide variant not provided [RCV001653436] Chr19:33477809 [GRCh38]
Chr19:33968715 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.549-10G>C single nucleotide variant not provided [RCV001487420] Chr19:33464072 [GRCh38]
Chr19:33954978 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.548+137del deletion not provided [RCV001616406] Chr19:33477909 [GRCh38]
Chr19:33968815 [GRCh37]
Chr19:19q13.11		 benign
NC_000019.10:g.33521955C>T single nucleotide variant not provided [RCV001652535] Chr19:33521955 [GRCh38]
Chr19:34012861 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.671+70A>G single nucleotide variant not provided [RCV001618021] Chr19:33462925 [GRCh38]
Chr19:33953831 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.968-73A>G single nucleotide variant not provided [RCV001616762]|not specified [RCV003399425] Chr19:33391552 [GRCh38]
Chr19:33882458 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.967+20G>C single nucleotide variant not provided [RCV001520569]|not specified [RCV001702904] Chr19:33401701 [GRCh38]
Chr19:33892607 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.549-1G>T single nucleotide variant Prolidase deficiency [RCV001730008] Chr19:33464063 [GRCh38]
Chr19:33954969 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.549-13_549-11del microsatellite not provided [RCV003108311] Chr19:33464073..33464075 [GRCh38]
Chr19:33954979..33954981 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.2T>G (p.Met1Arg) single nucleotide variant Prolidase deficiency [RCV001730007] Chr19:33521759 [GRCh38]
Chr19:34012665 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.183C>T (p.Thr61=) single nucleotide variant not provided [RCV001730242] Chr19:33512611 [GRCh38]
Chr19:34003517 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.418A>T (p.Lys140Ter) single nucleotide variant Prolidase deficiency [RCV001782595]|not provided [RCV003738096] Chr19:33493313 [GRCh38]
Chr19:33984219 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
NM_000285.4(PEPD):c.940C>T (p.Arg314Cys) single nucleotide variant PEPD-related condition [RCV003407787]|not provided [RCV001758320] Chr19:33401748 [GRCh38]
Chr19:33892654 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.901G>T (p.Asp301Tyr) single nucleotide variant PEPD-related condition [RCV003401680]|not provided [RCV001770943] Chr19:33401787 [GRCh38]
Chr19:33892693 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.788A>G (p.Asn263Ser) single nucleotide variant not provided [RCV001767602] Chr19:33411702 [GRCh38]
Chr19:33902608 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.825del (p.Phe275fs) deletion Prolidase deficiency [RCV001794936]|not provided [RCV002034648] Chr19:33401863 [GRCh38]
Chr19:33892769 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2		 pathogenic
NC_000019.9:g.(?_33968932)_(33969016_?)del deletion not provided [RCV001964245] Chr19:33968932..33969016 [GRCh37]
Chr19:19q13.11		 pathogenic|uncertain significance
NM_000285.4(PEPD):c.196C>T (p.Arg66Cys) single nucleotide variant not provided [RCV001971563] Chr19:33512598 [GRCh38]
Chr19:34003504 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.992G>T (p.Arg331Leu) single nucleotide variant not provided [RCV001891349] Chr19:33391455 [GRCh38]
Chr19:33882361 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.853G>A (p.Ala285Thr) single nucleotide variant not provided [RCV001950244] Chr19:33401835 [GRCh38]
Chr19:33892741 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1244T>A (p.Ile415Asn) single nucleotide variant not provided [RCV002009264] Chr19:33387990 [GRCh38]
Chr19:33878896 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.967+15G>A single nucleotide variant not provided [RCV002025814] Chr19:33401706 [GRCh38]
Chr19:33892612 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.389A>T (p.Asp130Val) single nucleotide variant not provided [RCV001987752] Chr19:33500942 [GRCh38]
Chr19:33991848 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.340A>T (p.Lys114Ter) single nucleotide variant not provided [RCV001949148] Chr19:33500991 [GRCh38]
Chr19:33991897 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.1255G>C (p.Asp419His) single nucleotide variant not provided [RCV001863861] Chr19:33387979 [GRCh38]
Chr19:33878885 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.425C>T (p.Ser142Phe) single nucleotide variant not provided [RCV001894458] Chr19:33493306 [GRCh38]
Chr19:33984212 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.143T>C (p.Leu48Pro) single nucleotide variant not provided [RCV001929667] Chr19:33512651 [GRCh38]
Chr19:34003557 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.504-3C>T single nucleotide variant not provided [RCV001896490] Chr19:33478093 [GRCh38]
Chr19:33968999 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1463C>G (p.Pro488Arg) single nucleotide variant Inborn genetic diseases [RCV002579609]|not provided [RCV002003284] Chr19:33387363 [GRCh38]
Chr19:33878269 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.725C>T (p.Thr242Ile) single nucleotide variant not provided [RCV001915505] Chr19:33413590 [GRCh38]
Chr19:33904496 [GRCh37]
Chr19:19q13.11		 uncertain significance
NC_000019.9:g.(?_34012630)_(34012666_?)del deletion not provided [RCV001946132] Chr19:34012630..34012666 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.973T>C (p.Trp325Arg) single nucleotide variant not provided [RCV001891281] Chr19:33391474 [GRCh38]
Chr19:33882380 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.880G>A (p.Ala294Thr) single nucleotide variant not provided [RCV002004186] Chr19:33401808 [GRCh38]
Chr19:33892714 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.207CTT[1] (p.Phe71del) microsatellite not provided [RCV001967401] Chr19:33511145..33511147 [GRCh38]
Chr19:34002051..34002053 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.286T>G (p.Phe96Val) single nucleotide variant not provided [RCV002041680] Chr19:33511071 [GRCh38]
Chr19:34001977 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.388G>T (p.Asp130Tyr) single nucleotide variant Inborn genetic diseases [RCV002562073]|not provided [RCV001946222] Chr19:33500943 [GRCh38]
Chr19:33991849 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.166C>T (p.Arg56Cys) single nucleotide variant not provided [RCV001985835] Chr19:33512628 [GRCh38]
Chr19:34003534 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1313A>G (p.Glu438Gly) single nucleotide variant not provided [RCV001911961] Chr19:33387921 [GRCh38]
Chr19:33878827 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.967+12G>T single nucleotide variant not provided [RCV001913260] Chr19:33401709 [GRCh38]
Chr19:33892615 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.97C>T (p.Arg33Trp) single nucleotide variant not provided [RCV001987610] Chr19:33512697 [GRCh38]
Chr19:34003603 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1168G>A (p.Asp390Asn) single nucleotide variant not provided [RCV001986661] Chr19:33388066 [GRCh38]
Chr19:33878972 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1333G>A (p.Gly445Ser) single nucleotide variant not provided [RCV001964658] Chr19:33387901 [GRCh38]
Chr19:33878807 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.98G>A (p.Arg33Gln) single nucleotide variant not provided [RCV001913755] Chr19:33512696 [GRCh38]
Chr19:34003602 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.663G>C (p.Glu221Asp) single nucleotide variant not provided [RCV001908133] Chr19:33463003 [GRCh38]
Chr19:33953909 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.297G>T (p.Arg99Ser) single nucleotide variant not provided [RCV002044401] Chr19:33511060 [GRCh38]
Chr19:34001966 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.508G>A (p.Glu170Lys) single nucleotide variant Inborn genetic diseases [RCV002561376]|not provided [RCV001945805] Chr19:33478086 [GRCh38]
Chr19:33968992 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.858C>T (p.Ser286=) single nucleotide variant Prolidase deficiency [RCV002492140]|not provided [RCV001965522] Chr19:33401830 [GRCh38]
Chr19:33892736 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.737G>A (p.Gly246Asp) single nucleotide variant not provided [RCV002005632] Chr19:33413578 [GRCh38]
Chr19:33904484 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.868T>C (p.Cys290Arg) single nucleotide variant not provided [RCV002003438] Chr19:33401820 [GRCh38]
Chr19:33892726 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19q13.11(chr19:32827535-35263640) copy number gain not specified [RCV002052679] Chr19:32827535..35263640 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1312G>A (p.Glu438Lys) single nucleotide variant not provided [RCV001966755] Chr19:33387922 [GRCh38]
Chr19:33878828 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.187G>A (p.Val63Ile) single nucleotide variant not provided [RCV002042756] Chr19:33512607 [GRCh38]
Chr19:34003513 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.610G>C (p.Glu204Gln) single nucleotide variant not provided [RCV001965772] Chr19:33464001 [GRCh38]
Chr19:33954907 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.403G>A (p.Val135Ile) single nucleotide variant not provided [RCV001948474] Chr19:33493328 [GRCh38]
Chr19:33984234 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.330G>C (p.Lys110Asn) single nucleotide variant not provided [RCV002021451] Chr19:33501001 [GRCh38]
Chr19:33991907 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.609C>T (p.Ser203=) single nucleotide variant not provided [RCV001946211] Chr19:33464002 [GRCh38]
Chr19:33954908 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_000285.4(PEPD):c.978G>C (p.Trp326Cys) single nucleotide variant not provided [RCV001871339] Chr19:33391469 [GRCh38]
Chr19:33882375 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1363G>A (p.Val455Ile) single nucleotide variant Inborn genetic diseases [RCV002553596]|not provided [RCV001891290] Chr19:33387463 [GRCh38]
Chr19:33878369 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1302_1304del (p.Leu435del) deletion not provided [RCV001964535] Chr19:33387930..33387932 [GRCh38]
Chr19:33878836..33878838 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.994C>A (p.Leu332Met) single nucleotide variant not provided [RCV001948304] Chr19:33391453 [GRCh38]
Chr19:33882359 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.941G>A (p.Arg314His) single nucleotide variant not provided [RCV001943069] Chr19:33401747 [GRCh38]
Chr19:33892653 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.697C>T (p.Arg233Trp) single nucleotide variant not provided [RCV001943831] Chr19:33413618 [GRCh38]
Chr19:33904524 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.678C>G (p.Phe226Leu) single nucleotide variant not provided [RCV001940756] Chr19:33413637 [GRCh38]
Chr19:33904543 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1330C>T (p.Arg444Cys) single nucleotide variant not provided [RCV001926205] Chr19:33387904 [GRCh38]
Chr19:33878810 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.841T>A (p.Tyr281Asn) single nucleotide variant Inborn genetic diseases [RCV002550378]|not provided [RCV001944777] Chr19:33401847 [GRCh38]
Chr19:33892753 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.550C>T (p.Arg184Ter) single nucleotide variant Prolidase deficiency [RCV002497819]|not provided [RCV001937013] Chr19:33464061 [GRCh38]
Chr19:33954967 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.197G>A (p.Arg66His) single nucleotide variant Inborn genetic diseases [RCV002545877]|not provided [RCV001904194] Chr19:33512597 [GRCh38]
Chr19:34003503 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1102C>T (p.Leu368Phe) single nucleotide variant not provided [RCV001886789] Chr19:33391345 [GRCh38]
Chr19:33882251 [GRCh37]
Chr19:19q13.11		 uncertain significance
NC_000019.9:g.(?_33902558)_(33904569_?)del deletion not provided [RCV001942074] Chr19:33902558..33904569 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.176C>T (p.Thr59Ile) single nucleotide variant not provided [RCV001943458] Chr19:33512618 [GRCh38]
Chr19:34003524 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.740+3A>T single nucleotide variant not provided [RCV001887905] Chr19:33413572 [GRCh38]
Chr19:33904478 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.586C>T (p.Arg196Cys) single nucleotide variant not provided [RCV001885652] Chr19:33464025 [GRCh38]
Chr19:33954931 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1323G>C (p.Gln441His) single nucleotide variant not provided [RCV001958171] Chr19:33387911 [GRCh38]
Chr19:33878817 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.741-12G>A single nucleotide variant not provided [RCV001933801] Chr19:33411761 [GRCh38]
Chr19:33902667 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1004G>A (p.Arg335His) single nucleotide variant Inborn genetic diseases [RCV003264118]|not provided [RCV002032924] Chr19:33391443 [GRCh38]
Chr19:33882349 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.178G>A (p.Asp60Asn) single nucleotide variant not provided [RCV001992817] Chr19:33512616 [GRCh38]
Chr19:34003522 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.932G>A (p.Arg311Gln) single nucleotide variant not provided [RCV001903293] Chr19:33401756 [GRCh38]
Chr19:33892662 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.671G>T (p.Ser224Ile) single nucleotide variant not provided [RCV001990297] Chr19:33462995 [GRCh38]
Chr19:33953901 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.197G>T (p.Arg66Leu) single nucleotide variant not provided [RCV002031254] Chr19:33512597 [GRCh38]
Chr19:34003503 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.769G>A (p.Gly257Arg) single nucleotide variant not provided [RCV001898530] Chr19:33411721 [GRCh38]
Chr19:33902627 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV001901306] Chr19:33521760 [GRCh38]
Chr19:34012666 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.200A>G (p.Gln67Arg) single nucleotide variant not provided [RCV001952553] Chr19:33512594 [GRCh38]
Chr19:34003500 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV001930592] Chr19:33521759 [GRCh38]
Chr19:34012665 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.819-1G>A single nucleotide variant Prolidase deficiency [RCV003448442]|not provided [RCV002030464] Chr19:33401870 [GRCh38]
Chr19:33892776 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.1292G>C (p.Arg431Pro) single nucleotide variant not provided [RCV002050175] Chr19:33387942 [GRCh38]
Chr19:33878848 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.511G>C (p.Val171Leu) single nucleotide variant not provided [RCV001930630] Chr19:33478083 [GRCh38]
Chr19:33968989 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1310G>A (p.Arg437His) single nucleotide variant not provided [RCV001933411] Chr19:33387924 [GRCh38]
Chr19:33878830 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.565G>A (p.Asp189Asn) single nucleotide variant not provided [RCV001954149] Chr19:33464046 [GRCh38]
Chr19:33954952 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1354G>A (p.Glu452Lys) single nucleotide variant not provided [RCV002014140] Chr19:33387472 [GRCh38]
Chr19:33878378 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1003C>T (p.Arg335Cys) single nucleotide variant not provided [RCV001898995] Chr19:33391444 [GRCh38]
Chr19:33882350 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1460C>T (p.Thr487Ile) single nucleotide variant not provided [RCV002014217] Chr19:33387366 [GRCh38]
Chr19:33878272 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1135G>A (p.Val379Met) single nucleotide variant not provided [RCV001935011] Chr19:33391312 [GRCh38]
Chr19:33882218 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.441+4A>C single nucleotide variant not provided [RCV002028143] Chr19:33493286 [GRCh38]
Chr19:33984192 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.740+10G>C single nucleotide variant not provided [RCV001959143] Chr19:33413565 [GRCh38]
Chr19:33904471 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.740+6C>T single nucleotide variant not provided [RCV001931202] Chr19:33413569 [GRCh38]
Chr19:33904475 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.620G>A (p.Arg207His) single nucleotide variant Inborn genetic diseases [RCV002551645]|not provided [RCV001878965] Chr19:33463991 [GRCh38]
Chr19:33954897 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1030A>G (p.Met344Val) single nucleotide variant not provided [RCV001940915] Chr19:33391417 [GRCh38]
Chr19:33882323 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.125C>T (p.Ala42Val) single nucleotide variant not provided [RCV001977810] Chr19:33512669 [GRCh38]
Chr19:34003575 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1435A>G (p.Met479Val) single nucleotide variant not provided [RCV001876794] Chr19:33387391 [GRCh38]
Chr19:33878297 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.248A>G (p.Tyr83Cys) single nucleotide variant not provided [RCV001903168] Chr19:33511109 [GRCh38]
Chr19:34002015 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.859G>A (p.Asp287Asn) single nucleotide variant Prolidase deficiency [RCV002497859]|not provided [RCV001992997] Chr19:33401829 [GRCh38]
Chr19:33892735 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.563C>T (p.Thr188Met) single nucleotide variant not provided [RCV001991798]|not specified [RCV002282676] Chr19:33464048 [GRCh38]
Chr19:33954954 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1057G>A (p.Ala353Thr) single nucleotide variant not provided [RCV001878307] Chr19:33391390 [GRCh38]
Chr19:33882296 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1345-12G>A single nucleotide variant not provided [RCV001932087] Chr19:33387493 [GRCh38]
Chr19:33878399 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.56C>T (p.Pro19Leu) single nucleotide variant not provided [RCV002018684] Chr19:33512738 [GRCh38]
Chr19:34003644 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.187G>T (p.Val63Phe) single nucleotide variant not provided [RCV001919259] Chr19:33512607 [GRCh38]
Chr19:34003513 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.504-6C>T single nucleotide variant not provided [RCV002035486] Chr19:33478096 [GRCh38]
Chr19:33969002 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.35G>A (p.Gly12Glu) single nucleotide variant not provided [RCV001925381] Chr19:33512759 [GRCh38]
Chr19:34003665 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.226G>A (p.Gly76Ser) single nucleotide variant not provided [RCV001981627] Chr19:33511131 [GRCh38]
Chr19:34002037 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.985A>G (p.Met329Val) single nucleotide variant not provided [RCV001905731] Chr19:33391462 [GRCh38]
Chr19:33882368 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1162C>T (p.Arg388Cys) single nucleotide variant not provided [RCV001990075] Chr19:33388072 [GRCh38]
Chr19:33878978 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.111C>A (p.Asn37Lys) single nucleotide variant Inborn genetic diseases [RCV002555797]|not provided [RCV001918682] Chr19:33512683 [GRCh38]
Chr19:34003589 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.779G>A (p.Gly260Glu) single nucleotide variant not provided [RCV001921560] Chr19:33411711 [GRCh38]
Chr19:33902617 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1309C>G (p.Arg437Gly) single nucleotide variant not provided [RCV002030102] Chr19:33387925 [GRCh38]
Chr19:33878831 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.775G>A (p.Ala259Thr) single nucleotide variant not provided [RCV001921590] Chr19:33411715 [GRCh38]
Chr19:33902621 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.330-2A>G single nucleotide variant not provided [RCV001992026] Chr19:33501003 [GRCh38]
Chr19:33991909 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.619C>T (p.Arg207Cys) single nucleotide variant not provided [RCV001996399] Chr19:33463992 [GRCh38]
Chr19:33954898 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1202G>A (p.Arg401Gln) single nucleotide variant not provided [RCV002046647] Chr19:33388032 [GRCh38]
Chr19:33878938 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1454C>A (p.Ala485Asp) single nucleotide variant Inborn genetic diseases [RCV002557637]|not provided [RCV001916438] Chr19:33387372 [GRCh38]
Chr19:33878278 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.18-8C>T single nucleotide variant not provided [RCV002107147] Chr19:33512784 [GRCh38]
Chr19:34003690 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.777C>T (p.Ala259=) single nucleotide variant not provided [RCV002190388] Chr19:33411713 [GRCh38]
Chr19:33902619 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.285G>C (p.Leu95=) single nucleotide variant not provided [RCV002073771] Chr19:33511072 [GRCh38]
Chr19:34001978 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.702C>T (p.Gly234=) single nucleotide variant not provided [RCV002074881] Chr19:33413613 [GRCh38]
Chr19:33904519 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1293C>T (p.Arg431=) single nucleotide variant not provided [RCV002189935] Chr19:33387941 [GRCh38]
Chr19:33878847 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV002206539] Chr19:33521755 [GRCh38]
Chr19:34012661 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+12G>C single nucleotide variant not provided [RCV002166209] Chr19:33521732 [GRCh38]
Chr19:34012638 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.366C>T (p.Ala122=) single nucleotide variant not provided [RCV002092733] Chr19:33500965 [GRCh38]
Chr19:33991871 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.879C>T (p.Pro293=) single nucleotide variant not provided [RCV002111630] Chr19:33401809 [GRCh38]
Chr19:33892715 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1345-23GT[2] microsatellite not provided [RCV002128377] Chr19:33387499..33387500 [GRCh38]
Chr19:33878405..33878406 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.534A>G (p.Pro178=) single nucleotide variant not provided [RCV002192602] Chr19:33478060 [GRCh38]
Chr19:33968966 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.432C>T (p.Leu144=) single nucleotide variant not provided [RCV002105876] Chr19:33493299 [GRCh38]
Chr19:33984205 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.202-5C>T single nucleotide variant not provided [RCV002185208] Chr19:33511160 [GRCh38]
Chr19:34002066 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.624+14C>T single nucleotide variant not provided [RCV002126064] Chr19:33463973 [GRCh38]
Chr19:33954879 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1344+15del deletion not provided [RCV002168287] Chr19:33387875 [GRCh38]
Chr19:33878781 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1345-17C>G single nucleotide variant not provided [RCV002106442] Chr19:33387498 [GRCh38]
Chr19:33878404 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1152+17C>T single nucleotide variant not provided [RCV002108048] Chr19:33391278 [GRCh38]
Chr19:33882184 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.393+11G>A single nucleotide variant not provided [RCV002090891] Chr19:33500927 [GRCh38]
Chr19:33991833 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.671+15T>C single nucleotide variant not provided [RCV002074699] Chr19:33462980 [GRCh38]
Chr19:33953886 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.945C>T (p.Ala315=) single nucleotide variant not provided [RCV002104763] Chr19:33401743 [GRCh38]
Chr19:33892649 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.741-17C>A single nucleotide variant not provided [RCV002109839] Chr19:33411766 [GRCh38]
Chr19:33902672 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1239G>A (p.Pro413=) single nucleotide variant not provided [RCV002191773] Chr19:33387995 [GRCh38]
Chr19:33878901 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.541G>C (p.Val181Leu) single nucleotide variant not provided [RCV002167919] Chr19:33478053 [GRCh38]
Chr19:33968959 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.201+13G>A single nucleotide variant not provided [RCV002105474] Chr19:33512580 [GRCh38]
Chr19:34003486 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.798G>A (p.Thr266=) single nucleotide variant not provided [RCV002174188] Chr19:33411692 [GRCh38]
Chr19:33902598 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+17C>T single nucleotide variant not provided [RCV002212959] Chr19:33521727 [GRCh38]
Chr19:34012633 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.507C>T (p.Phe169=) single nucleotide variant not provided [RCV002112766] Chr19:33478087 [GRCh38]
Chr19:33968993 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1152+14T>C single nucleotide variant not provided [RCV002149455] Chr19:33391281 [GRCh38]
Chr19:33882187 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.548+10G>A single nucleotide variant not provided [RCV002215213] Chr19:33478036 [GRCh38]
Chr19:33968942 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.548+15T>C single nucleotide variant not provided [RCV002085680] Chr19:33478031 [GRCh38]
Chr19:33968937 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1089T>C (p.Phe363=) single nucleotide variant not provided [RCV002148917] Chr19:33391358 [GRCh38]
Chr19:33882264 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1345-20T>A single nucleotide variant not provided [RCV002132506] Chr19:33387501 [GRCh38]
Chr19:33878407 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.18-8C>G single nucleotide variant not provided [RCV002213013] Chr19:33512784 [GRCh38]
Chr19:34003690 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.672-17C>T single nucleotide variant not provided [RCV002132324] Chr19:33413660 [GRCh38]
Chr19:33904566 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.696C>G (p.Ser232=) single nucleotide variant not provided [RCV002152179] Chr19:33413619 [GRCh38]
Chr19:33904525 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.912C>T (p.Ala304=) single nucleotide variant not provided [RCV002079396] Chr19:33401776 [GRCh38]
Chr19:33892682 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.885C>T (p.Asn295=) single nucleotide variant not provided [RCV002206360] Chr19:33401803 [GRCh38]
Chr19:33892709 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1173G>A (p.Glu391=) single nucleotide variant not provided [RCV002089627] Chr19:33388061 [GRCh38]
Chr19:33878967 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1176C>T (p.Pro392=) single nucleotide variant not provided [RCV002151072] Chr19:33388058 [GRCh38]
Chr19:33878964 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.967+18G>C single nucleotide variant not provided [RCV002115461] Chr19:33401703 [GRCh38]
Chr19:33892609 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.384C>T (p.Tyr128=) single nucleotide variant not provided [RCV002094323] Chr19:33500947 [GRCh38]
Chr19:33991853 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1455C>T (p.Ala485=) single nucleotide variant not provided [RCV002093169] Chr19:33387371 [GRCh38]
Chr19:33878277 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.375C>T (p.Asp125=) single nucleotide variant not provided [RCV002214941] Chr19:33500956 [GRCh38]
Chr19:33991862 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.873C>T (p.Ser291=) single nucleotide variant not provided [RCV002116798] Chr19:33401815 [GRCh38]
Chr19:33892721 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.201+12C>T single nucleotide variant not provided [RCV002121289] Chr19:33512581 [GRCh38]
Chr19:34003487 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.819-13C>T single nucleotide variant not provided [RCV002202019] Chr19:33401882 [GRCh38]
Chr19:33892788 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.861C>T (p.Asp287=) single nucleotide variant not provided [RCV002137604] Chr19:33401827 [GRCh38]
Chr19:33892733 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.144G>A (p.Leu48=) single nucleotide variant not provided [RCV002177021] Chr19:33512650 [GRCh38]
Chr19:34003556 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1044C>T (p.Ser348=) single nucleotide variant not provided [RCV002220268] Chr19:33391403 [GRCh38]
Chr19:33882309 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+12G>A single nucleotide variant not provided [RCV002099893] Chr19:33521732 [GRCh38]
Chr19:34012638 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.72C>A (p.Ala24=) single nucleotide variant not provided [RCV002198492] Chr19:33512722 [GRCh38]
Chr19:34003628 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.774C>T (p.His258=) single nucleotide variant PEPD-related condition [RCV003941311]|not provided [RCV002179903] Chr19:33411716 [GRCh38]
Chr19:33902622 [GRCh37]
Chr19:19q13.11		 benign|likely benign
NM_000285.4(PEPD):c.24G>A (p.Ser8=) single nucleotide variant not provided [RCV002163950] Chr19:33512770 [GRCh38]
Chr19:34003676 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1345-13C>T single nucleotide variant not provided [RCV002101158] Chr19:33387494 [GRCh38]
Chr19:33878400 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.330-16TG[3] microsatellite not provided [RCV002204650] Chr19:33501013..33501014 [GRCh38]
Chr19:33991919..33991920 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.768C>T (p.Tyr256=) single nucleotide variant not provided [RCV002101865] Chr19:33411722 [GRCh38]
Chr19:33902628 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.671+12dup duplication not provided [RCV002103564] Chr19:33462982..33462983 [GRCh38]
Chr19:33953888..33953889 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.672-18G>A single nucleotide variant not provided [RCV002103730] Chr19:33413661 [GRCh38]
Chr19:33904567 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.818+19C>G single nucleotide variant not provided [RCV002179712] Chr19:33411653 [GRCh38]
Chr19:33902559 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1344+12C>T single nucleotide variant not provided [RCV002143192] Chr19:33387878 [GRCh38]
Chr19:33878784 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.330-19C>G single nucleotide variant not provided [RCV002136364] Chr19:33501020 [GRCh38]
Chr19:33991926 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.330-13G>C single nucleotide variant not provided [RCV002162318] Chr19:33501014 [GRCh38]
Chr19:33991920 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.672-16G>A single nucleotide variant not provided [RCV002140419] Chr19:33413659 [GRCh38]
Chr19:33904565 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1170C>T (p.Asp390=) single nucleotide variant not provided [RCV002183415] Chr19:33388064 [GRCh38]
Chr19:33878970 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.519T>C (p.Asn173=) single nucleotide variant not provided [RCV002181322] Chr19:33478075 [GRCh38]
Chr19:33968981 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.394-10G>A single nucleotide variant not provided [RCV002136455] Chr19:33493347 [GRCh38]
Chr19:33984253 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.504-20G>A single nucleotide variant not provided [RCV002180232] Chr19:33478110 [GRCh38]
Chr19:33969016 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.756C>T (p.Ala252=) single nucleotide variant not provided [RCV002082746] Chr19:33411734 [GRCh38]
Chr19:33902640 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1392G>T (p.Leu464=) single nucleotide variant not provided [RCV002103051] Chr19:33387434 [GRCh38]
Chr19:33878340 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.615C>T (p.Ala205=) single nucleotide variant not provided [RCV003115216] Chr19:33463996 [GRCh38]
Chr19:33954902 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1167C>T (p.Ile389=) single nucleotide variant not provided [RCV003118142] Chr19:33388067 [GRCh38]
Chr19:33878973 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.789C>T (p.Asn263=) single nucleotide variant not provided [RCV003112257] Chr19:33411701 [GRCh38]
Chr19:33902607 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.967G>A (p.Gly323Ser) single nucleotide variant not provided [RCV003118887] Chr19:33401721 [GRCh38]
Chr19:33892627 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1310G>T (p.Arg437Leu) single nucleotide variant not provided [RCV002301553] Chr19:33387924 [GRCh38]
Chr19:33878830 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1086_1087del (p.Phe363fs) microsatellite not provided [RCV003074469] Chr19:33391360..33391361 [GRCh38]
Chr19:33882266..33882267 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.789C>A (p.Asn263Lys) single nucleotide variant not provided [RCV002971178] Chr19:33411701 [GRCh38]
Chr19:33902607 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.992G>A (p.Arg331His) single nucleotide variant not provided [RCV003074689] Chr19:33391455 [GRCh38]
Chr19:33882361 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.133A>G (p.Ile45Val) single nucleotide variant not provided [RCV002993566] Chr19:33512661 [GRCh38]
Chr19:34003567 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.538A>G (p.Ile180Val) single nucleotide variant not provided [RCV002613448] Chr19:33478056 [GRCh38]
Chr19:33968962 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.946G>T (p.Val316Phe) single nucleotide variant not provided [RCV002774787] Chr19:33401742 [GRCh38]
Chr19:33892648 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.864C>T (p.Ile288=) single nucleotide variant not provided [RCV003032529] Chr19:33401824 [GRCh38]
Chr19:33892730 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.740+5G>A single nucleotide variant PEPD-related condition [RCV003926509]|not provided [RCV002904100] Chr19:33413570 [GRCh38]
Chr19:33904476 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.671+3_671+11del deletion not provided [RCV003034546] Chr19:33462984..33462992 [GRCh38]
Chr19:33953890..33953898 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1341C>T (p.Gly447=) single nucleotide variant not provided [RCV003076802] Chr19:33387893 [GRCh38]
Chr19:33878799 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1108C>G (p.His370Asp) single nucleotide variant not provided [RCV003034469] Chr19:33391339 [GRCh38]
Chr19:33882245 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.740+17G>A single nucleotide variant not provided [RCV002843241] Chr19:33413558 [GRCh38]
Chr19:33904464 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.596A>G (p.Asn199Ser) single nucleotide variant not provided [RCV003073762] Chr19:33464015 [GRCh38]
Chr19:33954921 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.742G>A (p.Gly248Ser) single nucleotide variant not provided [RCV002843164] Chr19:33411748 [GRCh38]
Chr19:33902654 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.671+13G>C single nucleotide variant not provided [RCV003034545] Chr19:33462982 [GRCh38]
Chr19:33953888 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1402G>A (p.Val468Met) single nucleotide variant not provided [RCV003075881] Chr19:33387424 [GRCh38]
Chr19:33878330 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.740+2T>C single nucleotide variant not provided [RCV002996541] Chr19:33413573 [GRCh38]
Chr19:33904479 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.202-19G>A single nucleotide variant not provided [RCV003076639] Chr19:33511174 [GRCh38]
Chr19:34002080 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.31C>G (p.Leu11Val) single nucleotide variant not provided [RCV002820007] Chr19:33512763 [GRCh38]
Chr19:34003669 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.818+12C>T single nucleotide variant not provided [RCV002909071] Chr19:33411660 [GRCh38]
Chr19:33902566 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1111T>A (p.Phe371Ile) single nucleotide variant not provided [RCV002816126] Chr19:33391336 [GRCh38]
Chr19:33882242 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1380C>A (p.Ser460Arg) single nucleotide variant not provided [RCV002617237] Chr19:33387446 [GRCh38]
Chr19:33878352 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.386T>C (p.Val129Ala) single nucleotide variant not provided [RCV002751594] Chr19:33500945 [GRCh38]
Chr19:33991851 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.709C>A (p.Arg237Ser) single nucleotide variant not provided [RCV003034195] Chr19:33413606 [GRCh38]
Chr19:33904512 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.367G>A (p.Val123Met) single nucleotide variant not provided [RCV002994122] Chr19:33500964 [GRCh38]
Chr19:33991870 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.313G>T (p.Ala105Ser) single nucleotide variant not provided [RCV002880839] Chr19:33511044 [GRCh38]
Chr19:34001950 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.548+11C>T single nucleotide variant not provided [RCV002908304] Chr19:33478035 [GRCh38]
Chr19:33968941 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.372C>T (p.Asp124=) single nucleotide variant not provided [RCV002970801] Chr19:33500959 [GRCh38]
Chr19:33991865 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.671+2T>G single nucleotide variant not provided [RCV003034547] Chr19:33462993 [GRCh38]
Chr19:33953899 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.991C>A (p.Arg331Ser) single nucleotide variant not provided [RCV003014062] Chr19:33391456 [GRCh38]
Chr19:33882362 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.735C>T (p.Cys245=) single nucleotide variant not provided [RCV003081704] Chr19:33413580 [GRCh38]
Chr19:33904486 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.393+12G>A single nucleotide variant not provided [RCV003039571] Chr19:33500926 [GRCh38]
Chr19:33991832 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.672-19C>G single nucleotide variant not provided [RCV002780222] Chr19:33413662 [GRCh38]
Chr19:33904568 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.347A>G (p.His116Arg) single nucleotide variant not provided [RCV002948398] Chr19:33500984 [GRCh38]
Chr19:33991890 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.81G>A (p.Arg27=) single nucleotide variant not provided [RCV002913476] Chr19:33512713 [GRCh38]
Chr19:34003619 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1101G>A (p.Gly367=) single nucleotide variant not provided [RCV003039479] Chr19:33391346 [GRCh38]
Chr19:33882252 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.566A>G (p.Asp189Gly) single nucleotide variant not provided [RCV002913640] Chr19:33464045 [GRCh38]
Chr19:33954951 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.814A>G (p.Met272Val) single nucleotide variant not provided [RCV002781142] Chr19:33411676 [GRCh38]
Chr19:33902582 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.222G>A (p.Ala74=) single nucleotide variant not provided [RCV002909670] Chr19:33511135 [GRCh38]
Chr19:34002041 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.507C>G (p.Phe169Leu) single nucleotide variant not provided [RCV003077705] Chr19:33478087 [GRCh38]
Chr19:33968993 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.9G>A (p.Ala3=) single nucleotide variant not provided [RCV002706223] Chr19:33521752 [GRCh38]
Chr19:34012658 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1305T>G (p.Leu435=) single nucleotide variant not provided [RCV003078516] Chr19:33387929 [GRCh38]
Chr19:33878835 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.494G>A (p.Gly165Asp) single nucleotide variant Inborn genetic diseases [RCV002967397]|not provided [RCV002949662] Chr19:33490005 [GRCh38]
Chr19:33980911 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.32T>C (p.Leu11Pro) single nucleotide variant Inborn genetic diseases [RCV002737316] Chr19:33512762 [GRCh38]
Chr19:34003668 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.330-6T>C single nucleotide variant not provided [RCV002640151] Chr19:33501007 [GRCh38]
Chr19:33991913 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.127G>A (p.Gly43Ser) single nucleotide variant not provided [RCV003037364] Chr19:33512667 [GRCh38]
Chr19:34003573 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.436A>G (p.Thr146Ala) single nucleotide variant not provided [RCV002706579] Chr19:33493295 [GRCh38]
Chr19:33984201 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.393+5G>A single nucleotide variant not provided [RCV002706686] Chr19:33500933 [GRCh38]
Chr19:33991839 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.790G>A (p.Asp264Asn) single nucleotide variant not provided [RCV002913060] Chr19:33411700 [GRCh38]
Chr19:33902606 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.984C>G (p.Asp328Glu) single nucleotide variant not provided [RCV002979136] Chr19:33391463 [GRCh38]
Chr19:33882369 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.412T>C (p.Ser138Pro) single nucleotide variant not provided [RCV002820829] Chr19:33493319 [GRCh38]
Chr19:33984225 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.852C>T (p.Phe284=) single nucleotide variant not provided [RCV003078774] Chr19:33401836 [GRCh38]
Chr19:33892742 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.819-16C>G single nucleotide variant not provided [RCV003078010] Chr19:33401885 [GRCh38]
Chr19:33892791 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.86G>A (p.Arg29His) single nucleotide variant not provided [RCV002790820] Chr19:33512708 [GRCh38]
Chr19:34003614 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.991C>T (p.Arg331Cys) single nucleotide variant not provided [RCV003056586] Chr19:33391456 [GRCh38]
Chr19:33882362 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1291C>A (p.Arg431Ser) single nucleotide variant not provided [RCV002627368] Chr19:33387943 [GRCh38]
Chr19:33878849 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.968G>A (p.Gly323Asp) single nucleotide variant not provided [RCV002928990] Chr19:33391479 [GRCh38]
Chr19:33882385 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.596A>T (p.Asn199Ile) single nucleotide variant not provided [RCV003026188] Chr19:33464015 [GRCh38]
Chr19:33954921 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.351C>A (p.Phe117Leu) single nucleotide variant not provided [RCV002572655] Chr19:33500980 [GRCh38]
Chr19:33991886 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.99G>C (p.Arg33=) single nucleotide variant not provided [RCV003055947] Chr19:33512695 [GRCh38]
Chr19:34003601 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.698G>A (p.Arg233Gln) single nucleotide variant not provided [RCV003083913] Chr19:33413617 [GRCh38]
Chr19:33904523 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.196C>A (p.Arg66Ser) single nucleotide variant not provided [RCV002851481] Chr19:33512598 [GRCh38]
Chr19:34003504 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.72C>T (p.Ala24=) single nucleotide variant not provided [RCV002574493] Chr19:33512722 [GRCh38]
Chr19:34003628 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1036A>G (p.Ile346Val) single nucleotide variant not provided [RCV002929184] Chr19:33391411 [GRCh38]
Chr19:33882317 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.881C>G (p.Ala294Gly) single nucleotide variant not provided [RCV003057630] Chr19:33401807 [GRCh38]
Chr19:33892713 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.864C>G (p.Ile288Met) single nucleotide variant Inborn genetic diseases [RCV002697760] Chr19:33401824 [GRCh38]
Chr19:33892730 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.17+5G>C single nucleotide variant not provided [RCV002928516] Chr19:33521739 [GRCh38]
Chr19:34012645 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.330-17T>C single nucleotide variant not provided [RCV003025849] Chr19:33501018 [GRCh38]
Chr19:33991924 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.80G>A (p.Arg27Gln) single nucleotide variant not provided [RCV002800730] Chr19:33512714 [GRCh38]
Chr19:34003620 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.486C>G (p.Ser162=) single nucleotide variant not provided [RCV002928197] Chr19:33490013 [GRCh38]
Chr19:33980919 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.1344+1G>A single nucleotide variant not provided [RCV003057333] Chr19:33387889 [GRCh38]
Chr19:33878795 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1051G>A (p.Val351Met) single nucleotide variant Inborn genetic diseases [RCV002641970] Chr19:33391396 [GRCh38]
Chr19:33882302 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.917A>G (p.Tyr306Cys) single nucleotide variant not provided [RCV002624347] Chr19:33401771 [GRCh38]
Chr19:33892677 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1366G>A (p.Val456Met) single nucleotide variant not provided [RCV002928278] Chr19:33387460 [GRCh38]
Chr19:33878366 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.625-10C>T single nucleotide variant not provided [RCV002572857] Chr19:33463051 [GRCh38]
Chr19:33953957 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.587G>A (p.Arg196His) single nucleotide variant not provided [RCV003058984] Chr19:33464024 [GRCh38]
Chr19:33954930 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.610G>A (p.Glu204Lys) single nucleotide variant not provided [RCV002624671] Chr19:33464001 [GRCh38]
Chr19:33954907 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.42A>G (p.Glu14=) single nucleotide variant not provided [RCV002853295] Chr19:33512752 [GRCh38]
Chr19:34003658 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1153-13C>G single nucleotide variant not provided [RCV002958270] Chr19:33388094 [GRCh38]
Chr19:33879000 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1006A>G (p.Ile336Val) single nucleotide variant not provided [RCV002834429] Chr19:33391441 [GRCh38]
Chr19:33882347 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.818+16G>A single nucleotide variant not provided [RCV003064942] Chr19:33411656 [GRCh38]
Chr19:33902562 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.156G>A (p.Glu52=) single nucleotide variant not provided [RCV002806298] Chr19:33512638 [GRCh38]
Chr19:34003544 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.258C>T (p.Ile86=) single nucleotide variant not provided [RCV003091876] Chr19:33511099 [GRCh38]
Chr19:34002005 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1231G>A (p.Val411Met) single nucleotide variant Inborn genetic diseases [RCV002937361]|not provided [RCV002937360] Chr19:33388003 [GRCh38]
Chr19:33878909 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.517A>G (p.Asn173Asp) single nucleotide variant Inborn genetic diseases [RCV002959786] Chr19:33478077 [GRCh38]
Chr19:33968983 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.753A>T (p.Ser251=) single nucleotide variant not provided [RCV003060166] Chr19:33411737 [GRCh38]
Chr19:33902643 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.411G>A (p.Thr137=) single nucleotide variant not provided [RCV002598984] Chr19:33493320 [GRCh38]
Chr19:33984226 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1083C>T (p.Ala361=) single nucleotide variant not provided [RCV003086113] Chr19:33391364 [GRCh38]
Chr19:33882270 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.151G>A (p.Gly51Arg) single nucleotide variant not provided [RCV003091128] Chr19:33512643 [GRCh38]
Chr19:34003549 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.886G>A (p.Gly296Ser) single nucleotide variant not provided [RCV003061407] Chr19:33401802 [GRCh38]
Chr19:33892708 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.988C>T (p.His330Tyr) single nucleotide variant not provided [RCV002938122] Chr19:33391459 [GRCh38]
Chr19:33882365 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.167G>A (p.Arg56His) single nucleotide variant Inborn genetic diseases [RCV002715904]|not provided [RCV002715903] Chr19:33512627 [GRCh38]
Chr19:34003533 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1255G>A (p.Asp419Asn) single nucleotide variant not provided [RCV003063502] Chr19:33387979 [GRCh38]
Chr19:33878885 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.225C>T (p.Phe75=) single nucleotide variant not provided [RCV002631893] Chr19:33511132 [GRCh38]
Chr19:34002038 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+4A>C single nucleotide variant not provided [RCV002877107] Chr19:33521740 [GRCh38]
Chr19:34012646 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.493G>A (p.Gly165Ser) single nucleotide variant not provided [RCV002716925] Chr19:33490006 [GRCh38]
Chr19:33980912 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.184G>A (p.Gly62Arg) single nucleotide variant not provided [RCV002651745] Chr19:33512610 [GRCh38]
Chr19:34003516 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1152+16G>A single nucleotide variant not provided [RCV002857352] Chr19:33391279 [GRCh38]
Chr19:33882185 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1159G>A (p.Glu387Lys) single nucleotide variant Inborn genetic diseases [RCV003009309]|not provided [RCV003009310] Chr19:33388075 [GRCh38]
Chr19:33878981 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1345-16dup duplication not provided [RCV002671365] Chr19:33387496..33387497 [GRCh38]
Chr19:33878402..33878403 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1431A>G (p.Ala477=) single nucleotide variant not provided [RCV003089677] Chr19:33387395 [GRCh38]
Chr19:33878301 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.986T>C (p.Met329Thr) single nucleotide variant not provided [RCV002676055] Chr19:33391461 [GRCh38]
Chr19:33882367 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1374T>G (p.Thr458=) single nucleotide variant not provided [RCV003089239] Chr19:33387452 [GRCh38]
Chr19:33878358 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.818+15C>T single nucleotide variant not provided [RCV003063606] Chr19:33411657 [GRCh38]
Chr19:33902563 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.549-9T>C single nucleotide variant not provided [RCV002603559] Chr19:33464071 [GRCh38]
Chr19:33954977 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1254C>T (p.Ile418=) single nucleotide variant not provided [RCV003051429] Chr19:33387980 [GRCh38]
Chr19:33878886 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1238C>T (p.Pro413Leu) single nucleotide variant Inborn genetic diseases [RCV002722622] Chr19:33387996 [GRCh38]
Chr19:33878902 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.202-6C>A single nucleotide variant not provided [RCV003066255] Chr19:33511161 [GRCh38]
Chr19:34002067 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.403G>T (p.Val135Phe) single nucleotide variant not provided [RCV002943989] Chr19:33493328 [GRCh38]
Chr19:33984234 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.202-10C>T single nucleotide variant not provided [RCV002608601] Chr19:33511165 [GRCh38]
Chr19:34002071 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1345-18T>C single nucleotide variant not provided [RCV002654433] Chr19:33387499 [GRCh38]
Chr19:33878405 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.18-14T>C single nucleotide variant not provided [RCV003092853] Chr19:33512790 [GRCh38]
Chr19:34003696 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1451A>C (p.Lys484Thr) single nucleotide variant not provided [RCV002944198] Chr19:33387375 [GRCh38]
Chr19:33878281 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1195A>G (p.Thr399Ala) single nucleotide variant not provided [RCV003070090] Chr19:33388039 [GRCh38]
Chr19:33878945 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.150C>T (p.Gly50=) single nucleotide variant not provided [RCV003072686] Chr19:33512644 [GRCh38]
Chr19:34003550 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1230C>T (p.Thr410=) single nucleotide variant not provided [RCV002606613] Chr19:33388004 [GRCh38]
Chr19:33878910 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.548+9G>A single nucleotide variant not provided [RCV002654001] Chr19:33478037 [GRCh38]
Chr19:33968943 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1359G>C (p.Glu453Asp) single nucleotide variant not provided [RCV003069055] Chr19:33387467 [GRCh38]
Chr19:33878373 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1243A>T (p.Ile415Phe) single nucleotide variant Inborn genetic diseases [RCV003282785] Chr19:33387991 [GRCh38]
Chr19:33878897 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.266A>G (p.Asp89Gly) single nucleotide variant Inborn genetic diseases [RCV003197800] Chr19:33511091 [GRCh38]
Chr19:34001997 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.322A>G (p.Met108Val) single nucleotide variant Inborn genetic diseases [RCV003308875] Chr19:33511035 [GRCh38]
Chr19:34001941 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.769G>T (p.Gly257Ter) single nucleotide variant not provided [RCV003329764] Chr19:33411721 [GRCh38]
Chr19:33902627 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.1016A>C (p.Glu339Ala) single nucleotide variant Inborn genetic diseases [RCV003347971] Chr19:33391431 [GRCh38]
Chr19:33882337 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.446G>A (p.Gly149Asp) single nucleotide variant Inborn genetic diseases [RCV003367144] Chr19:33490053 [GRCh38]
Chr19:33980959 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.393+17T>G single nucleotide variant not provided [RCV003873029] Chr19:33500921 [GRCh38]
Chr19:33991827 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.967+15G>T single nucleotide variant not provided [RCV003571789] Chr19:33401706 [GRCh38]
Chr19:33892612 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.31C>T (p.Leu11=) single nucleotide variant not provided [RCV003686282] Chr19:33512763 [GRCh38]
Chr19:34003669 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1059C>T (p.Ala353=) single nucleotide variant not provided [RCV003543713] Chr19:33391388 [GRCh38]
Chr19:33882294 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.393+16C>T single nucleotide variant not provided [RCV003570548] Chr19:33500922 [GRCh38]
Chr19:33991828 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.881C>T (p.Ala294Val) single nucleotide variant not provided [RCV003543453] Chr19:33401807 [GRCh38]
Chr19:33892713 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.331A>G (p.Ile111Val) single nucleotide variant not provided [RCV003480308] Chr19:33501000 [GRCh38]
Chr19:33991906 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1461C>T (p.Thr487=) single nucleotide variant not provided [RCV003543151] Chr19:33387365 [GRCh38]
Chr19:33878271 [GRCh37]
Chr19:19q13.11		 likely benign
GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3 copy number gain not provided [RCV003485197] Chr19:32052961..34144873 [GRCh37]
Chr19:19q12-13.11		 uncertain significance
GRCh37/hg19 19q13.11(chr19:33301640-34007202)x3 copy number gain not provided [RCV003485198] Chr19:33301640..34007202 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1433G>A (p.Cys478Tyr) single nucleotide variant not provided [RCV003480307] Chr19:33387393 [GRCh38]
Chr19:33878299 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.968-4654C>T single nucleotide variant not specified [RCV003391204] Chr19:33396133 [GRCh38]
Chr19:33887039 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.968-4775T>G single nucleotide variant not specified [RCV003391197] Chr19:33396254 [GRCh38]
Chr19:33887160 [GRCh37]
Chr19:19q13.11		 benign
NM_000285.4(PEPD):c.818+2T>G single nucleotide variant PEPD-related condition [RCV003404248]|not provided [RCV003778228] Chr19:33411670 [GRCh38]
Chr19:33902576 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.954T>C (p.Gly318=) single nucleotide variant not provided [RCV003714307] Chr19:33401734 [GRCh38]
Chr19:33892640 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.636T>C (p.Ala212=) single nucleotide variant not provided [RCV003740401] Chr19:33463030 [GRCh38]
Chr19:33953936 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1155C>T (p.Gly385=) single nucleotide variant not provided [RCV003578029] Chr19:33388079 [GRCh38]
Chr19:33878985 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.273G>C (p.Gly91=) single nucleotide variant not provided [RCV003578630] Chr19:33511084 [GRCh38]
Chr19:34001990 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.120G>A (p.Val40=) single nucleotide variant not provided [RCV003691265] Chr19:33512674 [GRCh38]
Chr19:34003580 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1153-16C>T single nucleotide variant not provided [RCV003660448] Chr19:33388097 [GRCh38]
Chr19:33879003 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.843T>C (p.Tyr281=) single nucleotide variant not provided [RCV003848910] Chr19:33401845 [GRCh38]
Chr19:33892751 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.625-11C>T single nucleotide variant not provided [RCV003696377] Chr19:33463052 [GRCh38]
Chr19:33953958 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1074C>T (p.His358=) single nucleotide variant not provided [RCV003740227] Chr19:33391373 [GRCh38]
Chr19:33882279 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1122T>C (p.Ile374=) single nucleotide variant not provided [RCV003880678] Chr19:33391325 [GRCh38]
Chr19:33882231 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.549-16_549-3dup duplication not provided [RCV003713790] Chr19:33464064..33464065 [GRCh38]
Chr19:33954970..33954971 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.548+19C>T single nucleotide variant not provided [RCV003574482] Chr19:33478027 [GRCh38]
Chr19:33968933 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1206C>T (p.His402=) single nucleotide variant not provided [RCV003577918] Chr19:33388028 [GRCh38]
Chr19:33878934 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.393+2T>A single nucleotide variant not provided [RCV003579344] Chr19:33500936 [GRCh38]
Chr19:33991842 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.777C>A (p.Ala259=) single nucleotide variant not provided [RCV003548021] Chr19:33411713 [GRCh38]
Chr19:33902619 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.483C>T (p.Ala161=) single nucleotide variant not provided [RCV003831468] Chr19:33490016 [GRCh38]
Chr19:33980922 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.503+18A>G single nucleotide variant not provided [RCV003740272] Chr19:33489978 [GRCh38]
Chr19:33980884 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1302_1305del (p.Phe434fs) microsatellite not provided [RCV003661126] Chr19:33387929..33387932 [GRCh38]
Chr19:33878835..33878838 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.945C>A (p.Ala315=) single nucleotide variant not provided [RCV003576333] Chr19:33401743 [GRCh38]
Chr19:33892649 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1345-19G>A single nucleotide variant not provided [RCV003712931] Chr19:33387500 [GRCh38]
Chr19:33878406 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.825C>T (p.Phe275=) single nucleotide variant not provided [RCV003876745] Chr19:33401863 [GRCh38]
Chr19:33892769 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.967+19G>C single nucleotide variant not provided [RCV003882508] Chr19:33401702 [GRCh38]
Chr19:33892608 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.741-15C>T single nucleotide variant not provided [RCV003577112] Chr19:33411764 [GRCh38]
Chr19:33902670 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.15C>T (p.Thr5=) single nucleotide variant not provided [RCV003828204] Chr19:33521746 [GRCh38]
Chr19:34012652 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.330-12_330-11del deletion not provided [RCV003659939] Chr19:33501012..33501013 [GRCh38]
Chr19:33991918..33991919 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1308C>T (p.Asn436=) single nucleotide variant not provided [RCV003663251] Chr19:33387926 [GRCh38]
Chr19:33878832 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.504-1G>T single nucleotide variant not provided [RCV003573257] Chr19:33478091 [GRCh38]
Chr19:33968997 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.1152+13_1152+16del deletion not provided [RCV003575789] Chr19:33391279..33391282 [GRCh38]
Chr19:33882185..33882188 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+12G>T single nucleotide variant not provided [RCV003882207] Chr19:33521732 [GRCh38]
Chr19:34012638 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.503+7C>G single nucleotide variant not provided [RCV003716037] Chr19:33489989 [GRCh38]
Chr19:33980895 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.672-17C>A single nucleotide variant not provided [RCV003663495] Chr19:33413660 [GRCh38]
Chr19:33904566 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.625-1G>A single nucleotide variant not provided [RCV003690013] Chr19:33463042 [GRCh38]
Chr19:33953948 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.819-8C>T single nucleotide variant not provided [RCV003688534] Chr19:33401877 [GRCh38]
Chr19:33892783 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.687C>T (p.Tyr229=) single nucleotide variant not provided [RCV003825533] Chr19:33413628 [GRCh38]
Chr19:33904534 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.968-18G>C single nucleotide variant not provided [RCV003690511] Chr19:33391497 [GRCh38]
Chr19:33882403 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.967+9C>A single nucleotide variant not provided [RCV003692495] Chr19:33401712 [GRCh38]
Chr19:33892618 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1005C>A (p.Arg335=) single nucleotide variant not provided [RCV003574108] Chr19:33391442 [GRCh38]
Chr19:33882348 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.928C>T (p.Leu310=) single nucleotide variant not provided [RCV003690032] Chr19:33401760 [GRCh38]
Chr19:33892666 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.591T>C (p.Tyr197=) single nucleotide variant not provided [RCV003686744] Chr19:33464020 [GRCh38]
Chr19:33954926 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1086G>A (p.Val362=) single nucleotide variant not provided [RCV003714990] Chr19:33391361 [GRCh38]
Chr19:33882267 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.968-14C>T single nucleotide variant not provided [RCV003829925] Chr19:33391493 [GRCh38]
Chr19:33882399 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1332C>T (p.Arg444=) single nucleotide variant not provided [RCV003739188] Chr19:33387902 [GRCh38]
Chr19:33878808 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.199C>T (p.Gln67Ter) single nucleotide variant not provided [RCV003695943] Chr19:33512595 [GRCh38]
Chr19:34003501 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.1152+9G>A single nucleotide variant not provided [RCV003692731] Chr19:33391286 [GRCh38]
Chr19:33882192 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.867C>T (p.Thr289=) single nucleotide variant not provided [RCV003694920] Chr19:33401821 [GRCh38]
Chr19:33892727 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.522C>G (p.Thr174=) single nucleotide variant not provided [RCV003575740] Chr19:33478072 [GRCh38]
Chr19:33968978 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.330-1G>A single nucleotide variant not provided [RCV003713708] Chr19:33501002 [GRCh38]
Chr19:33991908 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.333C>A (p.Ile111=) single nucleotide variant not provided [RCV003661286] Chr19:33500998 [GRCh38]
Chr19:33991904 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.828C>T (p.Asp276=) single nucleotide variant not provided [RCV003712648] Chr19:33401860 [GRCh38]
Chr19:33892766 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1264del (p.Leu422fs) deletion not provided [RCV003712683] Chr19:33387970 [GRCh38]
Chr19:33878876 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.495C>T (p.Gly165=) single nucleotide variant not provided [RCV003879165] Chr19:33490004 [GRCh38]
Chr19:33980910 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.870C>T (p.Cys290=) single nucleotide variant not provided [RCV003578082] Chr19:33401818 [GRCh38]
Chr19:33892724 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1345-11G>A single nucleotide variant not provided [RCV003579018] Chr19:33387492 [GRCh38]
Chr19:33878398 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.138G>A (p.Val46=) single nucleotide variant not provided [RCV003687594] Chr19:33512656 [GRCh38]
Chr19:34003562 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.186G>A (p.Gly62=) single nucleotide variant not provided [RCV003578184] Chr19:33512608 [GRCh38]
Chr19:34003514 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.465C>T (p.Gly155=) single nucleotide variant not provided [RCV003659749] Chr19:33490034 [GRCh38]
Chr19:33980940 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.650_653del (p.Met217fs) deletion not provided [RCV003575400] Chr19:33463013..33463016 [GRCh38]
Chr19:33953919..33953922 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.330-11T>C single nucleotide variant not provided [RCV003691671] Chr19:33501012 [GRCh38]
Chr19:33991918 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+13C>A single nucleotide variant not provided [RCV003714627] Chr19:33521731 [GRCh38]
Chr19:34012637 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.409_441+191delinsCATGCCGTGGGCCTTGACATGGGGCCCCAGCCTTTGCC indel not provided [RCV003544698] Chr19:33493099..33493322 [GRCh38]
Chr19:33984005..33984228 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.684C>T (p.His228=) single nucleotide variant not provided [RCV003544337] Chr19:33413631 [GRCh38]
Chr19:33904537 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+11C>A single nucleotide variant not provided [RCV003714502] Chr19:33521733 [GRCh38]
Chr19:34012639 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.442-4C>T single nucleotide variant not provided [RCV003881002] Chr19:33490061 [GRCh38]
Chr19:33980967 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.531C>T (p.His177=) single nucleotide variant not provided [RCV003662795] Chr19:33478063 [GRCh38]
Chr19:33968969 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1371G>A (p.Val457=) single nucleotide variant not provided [RCV003572669] Chr19:33387455 [GRCh38]
Chr19:33878361 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1056C>T (p.Asp352=) single nucleotide variant not provided [RCV003693689] Chr19:33391391 [GRCh38]
Chr19:33882297 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1146C>T (p.Tyr382=) single nucleotide variant not provided [RCV003574628] Chr19:33391301 [GRCh38]
Chr19:33882207 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1152+13A>G single nucleotide variant not provided [RCV003878634] Chr19:33391282 [GRCh38]
Chr19:33882188 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.624+19C>T single nucleotide variant not provided [RCV003687433] Chr19:33463968 [GRCh38]
Chr19:33954874 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+14C>T single nucleotide variant not provided [RCV003879406] Chr19:33521730 [GRCh38]
Chr19:34012636 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1345-8T>C single nucleotide variant not provided [RCV003573330] Chr19:33387489 [GRCh38]
Chr19:33878395 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.486C>T (p.Ser162=) single nucleotide variant not provided [RCV003687955] Chr19:33490013 [GRCh38]
Chr19:33980919 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.329+14T>C single nucleotide variant not provided [RCV003692054] Chr19:33511014 [GRCh38]
Chr19:34001920 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.927G>A (p.Val309=) single nucleotide variant not provided [RCV003876008] Chr19:33401761 [GRCh38]
Chr19:33892667 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.953dup (p.Ala319fs) duplication not provided [RCV003714060] Chr19:33401734..33401735 [GRCh38]
Chr19:33892640..33892641 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.177C>T (p.Thr59=) single nucleotide variant not provided [RCV003877325] Chr19:33512617 [GRCh38]
Chr19:34003523 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.918T>C (p.Tyr306=) single nucleotide variant not provided [RCV003572232] Chr19:33401770 [GRCh38]
Chr19:33892676 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.968-2_980del deletion not provided [RCV003690523] Chr19:33391467..33391481 [GRCh38]
Chr19:33882373..33882387 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.17+18C>G single nucleotide variant not provided [RCV003833721] Chr19:33521726 [GRCh38]
Chr19:34012632 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+20C>A single nucleotide variant not provided [RCV003698615] Chr19:33521724 [GRCh38]
Chr19:34012630 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1215A>G (p.Pro405=) single nucleotide variant not provided [RCV003665359] Chr19:33388019 [GRCh38]
Chr19:33878925 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1230C>G (p.Thr410=) single nucleotide variant not provided [RCV003665358] Chr19:33388004 [GRCh38]
Chr19:33878910 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.503+16C>T single nucleotide variant not provided [RCV003699993] Chr19:33489980 [GRCh38]
Chr19:33980886 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1038C>T (p.Ile346=) single nucleotide variant not provided [RCV003550193] Chr19:33391409 [GRCh38]
Chr19:33882315 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.819-14T>A single nucleotide variant not provided [RCV003663612] Chr19:33401883 [GRCh38]
Chr19:33892789 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.994C>T (p.Leu332=) single nucleotide variant not provided [RCV003851904] Chr19:33391453 [GRCh38]
Chr19:33882359 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.693C>T (p.Tyr231=) single nucleotide variant not provided [RCV003663992] Chr19:33413622 [GRCh38]
Chr19:33904528 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.503+1G>C single nucleotide variant not provided [RCV003699580] Chr19:33489995 [GRCh38]
Chr19:33980901 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.786C>T (p.Pro262=) single nucleotide variant not provided [RCV003703771] Chr19:33411704 [GRCh38]
Chr19:33902610 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.201+7C>T single nucleotide variant not provided [RCV003659285] Chr19:33512586 [GRCh38]
Chr19:34003492 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.63G>A (p.Ala21=) single nucleotide variant not provided [RCV003559805] Chr19:33512731 [GRCh38]
Chr19:34003637 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1275C>T (p.Ala425=) single nucleotide variant not provided [RCV003817252] Chr19:33387959 [GRCh38]
Chr19:33878865 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.217dup (p.Trp73fs) duplication not provided [RCV003700248] Chr19:33511139..33511140 [GRCh38]
Chr19:34002045..34002046 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.671+11A>G single nucleotide variant not provided [RCV003669706] Chr19:33462984 [GRCh38]
Chr19:33953890 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1107C>G (p.Gly369=) single nucleotide variant not provided [RCV003703021] Chr19:33391340 [GRCh38]
Chr19:33882246 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+16C>T single nucleotide variant not provided [RCV003723442] Chr19:33521728 [GRCh38]
Chr19:34012634 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.702C>G (p.Gly234=) single nucleotide variant not provided [RCV003562123] Chr19:33413613 [GRCh38]
Chr19:33904519 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.504-2A>G single nucleotide variant not provided [RCV003560104] Chr19:33478092 [GRCh38]
Chr19:33968998 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.1041G>A (p.Leu347=) single nucleotide variant not provided [RCV003670410] Chr19:33391406 [GRCh38]
Chr19:33882312 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+20C>T single nucleotide variant not provided [RCV003697030] Chr19:33521724 [GRCh38]
Chr19:34012630 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.894C>T (p.Phe298=) single nucleotide variant not provided [RCV003562151] Chr19:33401794 [GRCh38]
Chr19:33892700 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1305_1306insCTTT (p.Asn436delinsLeuTer) insertion not provided [RCV003700831] Chr19:33387928..33387929 [GRCh38]
Chr19:33878834..33878835 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.1264C>T (p.Leu422=) single nucleotide variant not provided [RCV003672830] Chr19:33387970 [GRCh38]
Chr19:33878876 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.394-10G>C single nucleotide variant not provided [RCV003717833] Chr19:33493347 [GRCh38]
Chr19:33984253 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.843T>G (p.Tyr281Ter) single nucleotide variant not provided [RCV003703218] Chr19:33401845 [GRCh38]
Chr19:33892751 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.17+2T>C single nucleotide variant not provided [RCV003561992] Chr19:33521742 [GRCh38]
Chr19:34012648 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.393+13CTC[2] microsatellite not provided [RCV003851411] Chr19:33500917..33500919 [GRCh38]
Chr19:33991823..33991825 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.625-13A>G single nucleotide variant not provided [RCV003724164] Chr19:33463054 [GRCh38]
Chr19:33953960 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.126C>T (p.Ala42=) single nucleotide variant not provided [RCV003838845] Chr19:33512668 [GRCh38]
Chr19:34003574 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.456G>T (p.Thr152=) single nucleotide variant not provided [RCV003559159] Chr19:33490043 [GRCh38]
Chr19:33980949 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.285G>T (p.Leu95=) single nucleotide variant not provided [RCV003559490] Chr19:33511072 [GRCh38]
Chr19:34001978 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.442-10C>G single nucleotide variant not provided [RCV003673206] Chr19:33490067 [GRCh38]
Chr19:33980973 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.394-5_394-3del deletion not provided [RCV003666648] Chr19:33493340..33493342 [GRCh38]
Chr19:33984246..33984248 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1215A>C (p.Pro405=) single nucleotide variant not provided [RCV003701800] Chr19:33388019 [GRCh38]
Chr19:33878925 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.18-20G>A single nucleotide variant not provided [RCV003702273] Chr19:33512796 [GRCh38]
Chr19:34003702 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.741-2A>G single nucleotide variant not provided [RCV003669524] Chr19:33411751 [GRCh38]
Chr19:33902657 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.441+20G>A single nucleotide variant not provided [RCV003561643] Chr19:33493270 [GRCh38]
Chr19:33984176 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1095T>C (p.Pro365=) single nucleotide variant not provided [RCV003673935] Chr19:33391352 [GRCh38]
Chr19:33882258 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.740+11C>T single nucleotide variant not provided [RCV003672189] Chr19:33413564 [GRCh38]
Chr19:33904470 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.442-10C>T single nucleotide variant not provided [RCV003673577] Chr19:33490067 [GRCh38]
Chr19:33980973 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.968-17C>G single nucleotide variant not provided [RCV003559754] Chr19:33391496 [GRCh38]
Chr19:33882402 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.201+9C>T single nucleotide variant not provided [RCV003716871] Chr19:33512584 [GRCh38]
Chr19:34003490 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1185G>A (p.Arg395=) single nucleotide variant not provided [RCV003549954] Chr19:33388049 [GRCh38]
Chr19:33878955 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.540C>A (p.Ile180=) single nucleotide variant not provided [RCV003670090] Chr19:33478054 [GRCh38]
Chr19:33968960 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+8C>G single nucleotide variant not provided [RCV003701643] Chr19:33521736 [GRCh38]
Chr19:34012642 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1350C>A (p.Arg450=) single nucleotide variant not provided [RCV003665979] Chr19:33387476 [GRCh38]
Chr19:33878382 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.201+10C>T single nucleotide variant not provided [RCV003723313] Chr19:33512583 [GRCh38]
Chr19:34003489 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.624+15G>C single nucleotide variant not provided [RCV003549539] Chr19:33463972 [GRCh38]
Chr19:33954878 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.548+20A>T single nucleotide variant not provided [RCV003658914] Chr19:33478026 [GRCh38]
Chr19:33968932 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.442-19C>G single nucleotide variant not provided [RCV003833714] Chr19:33490076 [GRCh38]
Chr19:33980982 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1401C>T (p.Cys467=) single nucleotide variant not provided [RCV003851818] Chr19:33387425 [GRCh38]
Chr19:33878331 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.471C>T (p.Val157=) single nucleotide variant not provided [RCV003724821] Chr19:33490028 [GRCh38]
Chr19:33980934 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.753A>G (p.Ser251=) single nucleotide variant not provided [RCV003560281] Chr19:33411737 [GRCh38]
Chr19:33902643 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.442-13TC[3] microsatellite not provided [RCV003558033] Chr19:33490063..33490064 [GRCh38]
Chr19:33980969..33980970 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.202-8C>T single nucleotide variant not provided [RCV003701767] Chr19:33511163 [GRCh38]
Chr19:34002069 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.819-5C>T single nucleotide variant not provided [RCV003725143] Chr19:33401874 [GRCh38]
Chr19:33892780 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1344+10C>T single nucleotide variant not provided [RCV003725154] Chr19:33387880 [GRCh38]
Chr19:33878786 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1461C>G (p.Thr487=) single nucleotide variant not provided [RCV003855391] Chr19:33387365 [GRCh38]
Chr19:33878271 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.672-14C>T single nucleotide variant not provided [RCV003558206] Chr19:33413657 [GRCh38]
Chr19:33904563 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1422G>A (p.Glu474=) single nucleotide variant not provided [RCV003731182] Chr19:33387404 [GRCh38]
Chr19:33878310 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.379C>T (p.Gln127Ter) single nucleotide variant not provided [RCV003567449] Chr19:33500952 [GRCh38]
Chr19:33991858 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.838_841del (p.Glu280fs) deletion not provided [RCV003567533] Chr19:33401847..33401850 [GRCh38]
Chr19:33892753..33892756 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.741-19C>T single nucleotide variant not provided [RCV003728518] Chr19:33411768 [GRCh38]
Chr19:33902674 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.967+17T>C single nucleotide variant not provided [RCV003859770] Chr19:33401704 [GRCh38]
Chr19:33892610 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.967+14C>T single nucleotide variant not provided [RCV003710298] Chr19:33401707 [GRCh38]
Chr19:33892613 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.504-15C>G single nucleotide variant not provided [RCV003820041] Chr19:33478105 [GRCh38]
Chr19:33969011 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.525T>C (p.Ile175=) single nucleotide variant not provided [RCV003865058] Chr19:33478069 [GRCh38]
Chr19:33968975 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+15T>C single nucleotide variant not provided [RCV003563727] Chr19:33521729 [GRCh38]
Chr19:34012635 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1060_1094dup (p.His366fs) duplication not provided [RCV003566341] Chr19:33391352..33391353 [GRCh38]
Chr19:33882258..33882259 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.729C>T (p.Cys243=) single nucleotide variant not provided [RCV003555409] Chr19:33413586 [GRCh38]
Chr19:33904492 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1026C>T (p.Ala342=) single nucleotide variant not provided [RCV003731528] Chr19:33391421 [GRCh38]
Chr19:33882327 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.351C>T (p.Phe117=) single nucleotide variant not provided [RCV003821624] Chr19:33500980 [GRCh38]
Chr19:33991886 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.66C>T (p.Leu22=) single nucleotide variant not provided [RCV003864116] Chr19:33512728 [GRCh38]
Chr19:34003634 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.163C>T (p.Gln55Ter) single nucleotide variant not provided [RCV003711477] Chr19:33512631 [GRCh38]
Chr19:34003537 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.1344+10C>A single nucleotide variant not provided [RCV003820031] Chr19:33387880 [GRCh38]
Chr19:33878786 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.348C>T (p.His116=) single nucleotide variant not provided [RCV003823669] Chr19:33500983 [GRCh38]
Chr19:33991889 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.18-16G>T single nucleotide variant not provided [RCV003711637] Chr19:33512792 [GRCh38]
Chr19:34003698 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.671+8A>G single nucleotide variant not provided [RCV003563803] Chr19:33462987 [GRCh38]
Chr19:33953893 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1185G>C (p.Arg395=) single nucleotide variant not provided [RCV003555703] Chr19:33388049 [GRCh38]
Chr19:33878955 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.441+10T>C single nucleotide variant not provided [RCV003670662] Chr19:33493280 [GRCh38]
Chr19:33984186 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.441+19G>A single nucleotide variant not provided [RCV003542666] Chr19:33493271 [GRCh38]
Chr19:33984177 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.819-11T>G single nucleotide variant not provided [RCV003731190] Chr19:33401880 [GRCh38]
Chr19:33892786 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.672-19C>T single nucleotide variant not provided [RCV003734344] Chr19:33413662 [GRCh38]
Chr19:33904568 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.394-8C>A single nucleotide variant not provided [RCV003734760] Chr19:33493345 [GRCh38]
Chr19:33984251 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.829A>G (p.Met277Val) single nucleotide variant not provided [RCV003719143] Chr19:33401859 [GRCh38]
Chr19:33892765 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.672-8C>T single nucleotide variant not provided [RCV003872545] Chr19:33413651 [GRCh38]
Chr19:33904557 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.504-7C>T single nucleotide variant not provided [RCV003706357] Chr19:33478097 [GRCh38]
Chr19:33969003 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.68_69del (p.Phe23fs) deletion not provided [RCV003737243] Chr19:33512725..33512726 [GRCh38]
Chr19:34003631..34003632 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.671+19C>T single nucleotide variant not provided [RCV003859617] Chr19:33462976 [GRCh38]
Chr19:33953882 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.548+12C>T single nucleotide variant not provided [RCV003566261] Chr19:33478034 [GRCh38]
Chr19:33968940 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.694T>A (p.Ser232Thr) single nucleotide variant not provided [RCV003670643] Chr19:33413621 [GRCh38]
Chr19:33904527 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.1287G>A (p.Pro429=) single nucleotide variant not provided [RCV003847204] Chr19:33387947 [GRCh38]
Chr19:33878853 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1318C>T (p.Leu440=) single nucleotide variant not provided [RCV003711933] Chr19:33387916 [GRCh38]
Chr19:33878822 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1345-10C>G single nucleotide variant not provided [RCV003557150] Chr19:33387491 [GRCh38]
Chr19:33878397 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1237C>T (p.Pro413Ser) single nucleotide variant not provided [RCV003731514] Chr19:33387997 [GRCh38]
Chr19:33878903 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.624+18T>C single nucleotide variant not provided [RCV003568700] Chr19:33463969 [GRCh38]
Chr19:33954875 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.738_739insGT (p.Ser247fs) insertion not provided [RCV003719067] Chr19:33413576..33413577 [GRCh38]
Chr19:33904482..33904483 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.981T>C (p.Pro327=) single nucleotide variant not provided [RCV003721140] Chr19:33391466 [GRCh38]
Chr19:33882372 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.330-16T>C single nucleotide variant not provided [RCV003821451] Chr19:33501017 [GRCh38]
Chr19:33991923 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1041G>C (p.Leu347=) single nucleotide variant not provided [RCV003735952] Chr19:33391406 [GRCh38]
Chr19:33882312 [GRCh37]
Chr19:19q13.11		 likely benign
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2		 pathogenic
NM_000285.4(PEPD):c.135C>T (p.Ile45=) single nucleotide variant not provided [RCV003736091] Chr19:33512659 [GRCh38]
Chr19:34003565 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.90G>T (p.Leu30=) single nucleotide variant not provided [RCV003737617] Chr19:33512704 [GRCh38]
Chr19:34003610 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.202-16C>A single nucleotide variant not provided [RCV003720286] Chr19:33511171 [GRCh38]
Chr19:34002077 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+2T>G single nucleotide variant not provided [RCV003870290] Chr19:33521742 [GRCh38]
Chr19:34012648 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.503+13C>T single nucleotide variant not provided [RCV003718810] Chr19:33489983 [GRCh38]
Chr19:33980889 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.*2G>T single nucleotide variant PEPD-related condition [RCV003939632] Chr19:33387342 [GRCh38]
Chr19:33878248 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.202-18T>C single nucleotide variant not provided [RCV003864916] Chr19:33511173 [GRCh38]
Chr19:34002079 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.228T>G (p.Gly76=) single nucleotide variant not provided [RCV003557231] Chr19:33511129 [GRCh38]
Chr19:34002035 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.671+20C>T single nucleotide variant not provided [RCV003871188] Chr19:33462975 [GRCh38]
Chr19:33953881 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.282C>T (p.Thr94=) single nucleotide variant not provided [RCV003551695] Chr19:33511075 [GRCh38]
Chr19:34001981 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.840G>A (p.Glu280=) single nucleotide variant not provided [RCV003557414] Chr19:33401848 [GRCh38]
Chr19:33892754 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.548+11C>G single nucleotide variant not provided [RCV003721213] Chr19:33478035 [GRCh38]
Chr19:33968941 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.873C>G (p.Ser291=) single nucleotide variant not provided [RCV003720292] Chr19:33401815 [GRCh38]
Chr19:33892721 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1344+4_1344+7dup duplication not provided [RCV003721839] Chr19:33387882..33387883 [GRCh38]
Chr19:33878788..33878789 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.503+17C>A single nucleotide variant not provided [RCV003721854] Chr19:33489979 [GRCh38]
Chr19:33980885 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1153-13_1153-12del microsatellite not provided [RCV003863994] Chr19:33388093..33388094 [GRCh38]
Chr19:33878999..33879000 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.537G>A (p.Glu179=) single nucleotide variant not provided [RCV003719517] Chr19:33478057 [GRCh38]
Chr19:33968963 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.17+11C>G single nucleotide variant not provided [RCV003564048] Chr19:33521733 [GRCh38]
Chr19:34012639 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.819-20C>A single nucleotide variant not provided [RCV003564085] Chr19:33401889 [GRCh38]
Chr19:33892795 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.967+19G>T single nucleotide variant not provided [RCV003681504] Chr19:33401702 [GRCh38]
Chr19:33892608 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.168C>G (p.Arg56=) single nucleotide variant not provided [RCV003677824] Chr19:33512626 [GRCh38]
Chr19:34003532 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.818+17G>T single nucleotide variant not provided [RCV003557020] Chr19:33411655 [GRCh38]
Chr19:33902561 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1050C>T (p.Ser350=) single nucleotide variant not provided [RCV003866729] Chr19:33391397 [GRCh38]
Chr19:33882303 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.441+19G>T single nucleotide variant not provided [RCV003823709] Chr19:33493271 [GRCh38]
Chr19:33984177 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1113C>T (p.Phe371=) single nucleotide variant not provided [RCV003567153] Chr19:33391334 [GRCh38]
Chr19:33882240 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1365C>G (p.Val455=) single nucleotide variant not provided [RCV003554005] Chr19:33387461 [GRCh38]
Chr19:33878367 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.540C>T (p.Ile180=) single nucleotide variant not provided [RCV003734799] Chr19:33478054 [GRCh38]
Chr19:33968960 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.281C>G (p.Thr94Ser) single nucleotide variant not provided [RCV003735599] Chr19:33511076 [GRCh38]
Chr19:34001982 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_000285.4(PEPD):c.442-15_442-14del microsatellite not provided [RCV003674488] Chr19:33490071..33490072 [GRCh38]
Chr19:33980977..33980978 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.771A>T (p.Gly257=) single nucleotide variant not provided [RCV003674631] Chr19:33411719 [GRCh38]
Chr19:33902625 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.564G>A (p.Thr188=) single nucleotide variant not provided [RCV003818299] Chr19:33464047 [GRCh38]
Chr19:33954953 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1075C>T (p.Leu359=) single nucleotide variant not provided [RCV003727021] Chr19:33391372 [GRCh38]
Chr19:33882278 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.967+15G>C single nucleotide variant not provided [RCV003670675] Chr19:33401706 [GRCh38]
Chr19:33892612 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.672-6C>T single nucleotide variant not provided [RCV003563605] Chr19:33413649 [GRCh38]
Chr19:33904555 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.366C>A (p.Ala122=) single nucleotide variant not provided [RCV003566528] Chr19:33500965 [GRCh38]
Chr19:33991871 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1153-15C>G single nucleotide variant not provided [RCV003675952] Chr19:33388096 [GRCh38]
Chr19:33879002 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.967+18G>T single nucleotide variant not provided [RCV003707697] Chr19:33401703 [GRCh38]
Chr19:33892609 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.441+12G>A single nucleotide variant not provided [RCV003542959] Chr19:33493278 [GRCh38]
Chr19:33984184 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.97C>A (p.Arg33=) single nucleotide variant not provided [RCV003709613] Chr19:33512697 [GRCh38]
Chr19:34003603 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.442-1G>C single nucleotide variant not provided [RCV003564042] Chr19:33490058 [GRCh38]
Chr19:33980964 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_000285.4(PEPD):c.1248C>T (p.Tyr416=) single nucleotide variant not provided [RCV003679326] Chr19:33387986 [GRCh38]
Chr19:33878892 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.18-11T>C single nucleotide variant not provided [RCV003568127] Chr19:33512787 [GRCh38]
Chr19:34003693 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.442-5C>T single nucleotide variant not provided [RCV003730028] Chr19:33490062 [GRCh38]
Chr19:33980968 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.1189C>T (p.Leu397=) single nucleotide variant not provided [RCV003708016] Chr19:33388045 [GRCh38]
Chr19:33878951 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.297del (p.Arg99fs) deletion not provided [RCV003566631] Chr19:33511060 [GRCh38]
Chr19:34001966 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_000285.4(PEPD):c.967+8G>C single nucleotide variant not provided [RCV003845431] Chr19:33401713 [GRCh38]
Chr19:33892619 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.498C>T (p.Ile166=) single nucleotide variant not provided [RCV003677777] Chr19:33490001 [GRCh38]
Chr19:33980907 [GRCh37]
Chr19:19q13.11		 likely benign
NM_000285.4(PEPD):c.394-11C>T single nucleotide variant not provided [RCV003551007] Chr19:33493348 [GRCh38]
Chr19:33984254 [GRCh37]
Chr19:19q13.11		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2992
Count of miRNA genes:791
Interacting mature miRNAs:951
Transcripts:ENST00000244137, ENST00000397032, ENST00000436370, ENST00000588328, ENST00000588719, ENST00000589598, ENST00000590408, ENST00000590731, ENST00000590755, ENST00000591968, ENST00000593085, ENST00000593163, ENST00000609145
Prediction methods: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.

Markers in Region
D19S719  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,913,946 - 33,914,193UniSTSGRCh37
Build 361938,605,786 - 38,606,033RGDNCBI36
Celera1930,607,512 - 30,607,759RGD
Cytogenetic Map19q13.11UniSTS
HuRef1930,414,580 - 30,414,827UniSTS
Marshfield Genetic Map1956.69UniSTS
Marshfield Genetic Map1956.69RGD
deCODE Assembly Map1956.19UniSTS
Stanford-G3 RH Map191332.0UniSTS
NCBI RH Map19335.6UniSTS
STS-W87536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,899,799 - 33,900,048UniSTSGRCh37
Build 361938,591,639 - 38,591,888RGDNCBI36
Celera1930,593,363 - 30,593,612RGD
Cytogenetic Map19q13.11UniSTS
HuRef1930,400,431 - 30,400,680UniSTS
GeneMap99-GB4 RH Map19194.23UniSTS
GDB:362675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,878,329 - 33,878,840UniSTSGRCh37
Build 361938,570,169 - 38,570,680RGDNCBI36
Celera1930,571,901 - 30,572,412RGD
Cytogenetic Map19q13.11UniSTS
HuRef1930,378,965 - 30,379,476UniSTS
GDB:374532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,984,149 - 33,984,366UniSTSGRCh37
Build 361938,675,989 - 38,676,206RGDNCBI36
Celera1930,677,714 - 30,677,931RGD
Cytogenetic Map19q13.11UniSTS
HuRef1930,484,262 - 30,484,479UniSTS
GDB:374535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,968,837 - 33,969,111UniSTSGRCh37
Build 361938,660,677 - 38,660,951RGDNCBI36
Celera1930,662,400 - 30,662,674RGD
Cytogenetic Map19q13.11UniSTS
HuRef1930,469,103 - 30,469,377UniSTS
SHGC-132252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,913,908 - 33,914,186UniSTSGRCh37
Build 361938,605,748 - 38,606,026RGDNCBI36
Celera1930,607,474 - 30,607,752RGD
Cytogenetic Map19q13.11UniSTS
HuRef1930,414,542 - 30,414,820UniSTS
TNG Radiation Hybrid Map1912053.0UniSTS
SHGC-33750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,977,522 - 33,977,647UniSTSGRCh37
Build 361938,669,362 - 38,669,487RGDNCBI36
Celera1930,671,087 - 30,671,212RGD
Cytogenetic Map19q13.11UniSTS
HuRef1930,477,797 - 30,477,922UniSTS
TNG Radiation Hybrid Map1912036.0UniSTS
RH47236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,878,039 - 33,878,120UniSTSGRCh37
Build 361938,569,879 - 38,569,960RGDNCBI36
Celera1930,571,611 - 30,571,692RGD
Cytogenetic Map19q13.11UniSTS
HuRef1930,378,675 - 30,378,756UniSTS
GeneMap99-GB4 RH Map19193.92UniSTS
RH11766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,877,866 - 33,878,115UniSTSGRCh37
Build 361938,569,706 - 38,569,955RGDNCBI36
Celera1930,571,438 - 30,571,687RGD
Cytogenetic Map19q13.11UniSTS
HuRef1930,378,502 - 30,378,751UniSTS
GeneMap99-GB4 RH Map19193.92UniSTS
D19S1004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,877,867 - 33,878,210UniSTSGRCh37
Build 361938,569,707 - 38,570,050RGDNCBI36
Celera1930,571,439 - 30,571,782RGD
Cytogenetic Map19q13.11UniSTS
HuRef1930,378,503 - 30,378,846UniSTS
Stanford-G3 RH Map191319.0UniSTS
GeneMap99-G3 RH Map191330.0UniSTS
PEPD__5665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,877,860 - 33,878,321UniSTSGRCh37
Build 361938,569,700 - 38,570,161RGDNCBI36
Celera1930,571,432 - 30,571,893RGD
HuRef1930,378,496 - 30,378,957UniSTS
GDB:362655  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.11UniSTS
GDB:362661  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.11UniSTS
GDB:362665  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.11UniSTS
GDB:362670  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.11UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2433 2552 1722 624 1725 465 4341 1991 3649 413 1456 1608 175 1 1204 2772 5 2
Low 6 439 4 223 16 206 85 6 4 4 16 1
Below cutoff 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW512991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY271819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC385464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC395475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000244137   ⟹   ENSP00000244137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,950 - 33,521,791 (-)Ensembl
RefSeq Acc Id: ENST00000397032   ⟹   ENSP00000380226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,980 - 33,521,791 (-)Ensembl
RefSeq Acc Id: ENST00000436370   ⟹   ENSP00000391890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,387,024 - 33,521,788 (-)Ensembl
RefSeq Acc Id: ENST00000588328   ⟹   ENSP00000468516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,952 - 33,521,791 (-)Ensembl
RefSeq Acc Id: ENST00000588719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,401,839 - 33,487,387 (-)Ensembl
RefSeq Acc Id: ENST00000590408   ⟹   ENSP00000476869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,462,951 - 33,511,138 (-)Ensembl
RefSeq Acc Id: ENST00000590731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,387,959 - 33,487,080 (-)Ensembl
RefSeq Acc Id: ENST00000590755   ⟹   ENSP00000476667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,462,946 - 33,493,337 (-)Ensembl
RefSeq Acc Id: ENST00000591968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,955 - 33,395,148 (-)Ensembl
RefSeq Acc Id: ENST00000593085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,950 - 33,389,120 (-)Ensembl
RefSeq Acc Id: ENST00000593163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,493,315 - 33,511,521 (-)Ensembl
RefSeq Acc Id: ENST00000609145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,401,808 - 33,493,420 (-)Ensembl
RefSeq Acc Id: ENST00000651646   ⟹   ENSP00000498950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,462,644 - 33,521,760 (-)Ensembl
RefSeq Acc Id: ENST00000651901   ⟹   ENSP00000498922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,387,108 - 33,521,791 (-)Ensembl
RefSeq Acc Id: ENST00000698359   ⟹   ENSP00000513682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,965 - 33,521,791 (-)Ensembl
RefSeq Acc Id: ENST00000698360   ⟹   ENSP00000513683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,965 - 33,521,797 (-)Ensembl
RefSeq Acc Id: ENST00000698361   ⟹   ENSP00000513684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,965 - 33,521,823 (-)Ensembl
RefSeq Acc Id: ENST00000698362   ⟹   ENSP00000513685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,998 - 33,521,823 (-)Ensembl
RefSeq Acc Id: ENST00000698363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,399,542 - 33,521,823 (-)Ensembl
RefSeq Acc Id: ENST00000698364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,400,209 - 33,521,823 (-)Ensembl
RefSeq Acc Id: ENST00000698365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,400,369 - 33,521,823 (-)Ensembl
RefSeq Acc Id: ENST00000698426   ⟹   ENSP00000513713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,955 - 33,521,774 (-)Ensembl
RefSeq Acc Id: ENST00000698427   ⟹   ENSP00000513714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,955 - 33,521,784 (-)Ensembl
RefSeq Acc Id: ENST00000698428   ⟹   ENSP00000513715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,955 - 33,521,791 (-)Ensembl
RefSeq Acc Id: ENST00000698429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,965 - 33,453,284 (-)Ensembl
RefSeq Acc Id: ENST00000698430   ⟹   ENSP00000513716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,965 - 33,511,096 (-)Ensembl
RefSeq Acc Id: ENST00000698431   ⟹   ENSP00000513717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,965 - 33,511,155 (-)Ensembl
RefSeq Acc Id: ENST00000698432   ⟹   ENSP00000513718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,386,965 - 33,512,776 (-)Ensembl
RefSeq Acc Id: ENST00000698433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,387,349 - 33,413,932 (-)Ensembl
RefSeq Acc Id: ENST00000698434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,391,389 - 33,415,842 (-)Ensembl
RefSeq Acc Id: ENST00000698435   ⟹   ENSP00000513719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,401,790 - 33,521,789 (-)Ensembl
RefSeq Acc Id: ENST00000698436   ⟹   ENSP00000513720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,413,552 - 33,521,807 (-)Ensembl
RefSeq Acc Id: ENST00000698437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,460,103 - 33,512,776 (-)Ensembl
RefSeq Acc Id: ENST00000698438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,462,522 - 33,512,775 (-)Ensembl
RefSeq Acc Id: ENST00000698439   ⟹   ENSP00000513721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,462,644 - 33,512,760 (-)Ensembl
RefSeq Acc Id: NM_000285   ⟹   NP_000276
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,386,950 - 33,521,791 (-)NCBI
GRCh371933,877,855 - 34,012,799 (-)ENTREZGENE
Build 361938,569,701 - 38,704,641 (-)NCBI Archive
HuRef1930,454,304 - 30,512,607 (-)ENTREZGENE
HuRef1930,378,491 - 30,405,183 (-)NCBI
CHM1_11933,878,802 - 34,013,898 (-)NCBI
T2T-CHM13v2.01935,906,727 - 36,042,546 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166056   ⟹   NP_001159528
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,386,950 - 33,521,791 (-)NCBI
GRCh371933,877,855 - 34,012,799 (-)ENTREZGENE
HuRef1930,454,304 - 30,512,607 (-)ENTREZGENE
HuRef1930,378,491 - 30,405,183 (-)NCBI
CHM1_11933,878,802 - 34,013,898 (-)NCBI
T2T-CHM13v2.01935,906,727 - 36,042,546 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166057   ⟹   NP_001159529
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,386,950 - 33,521,791 (-)NCBI
GRCh371933,877,855 - 34,012,799 (-)ENTREZGENE
HuRef1930,454,304 - 30,512,607 (-)ENTREZGENE
HuRef1930,378,491 - 30,405,183 (-)NCBI
CHM1_11933,878,802 - 34,013,898 (-)NCBI
T2T-CHM13v2.01935,906,727 - 36,042,546 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001159529   ⟸   NM_001166057
- Peptide Label: isoform 3
- UniProtKB: A0A8V8TLP2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000276   ⟸   NM_000285
- Peptide Label: isoform 1
- UniProtKB: Q8TBN9 (UniProtKB/Swiss-Prot),   E9PCE8 (UniProtKB/Swiss-Prot),   B4DGJ1 (UniProtKB/Swiss-Prot),   B4DDB7 (UniProtKB/Swiss-Prot),   A8MX47 (UniProtKB/Swiss-Prot),   A8K696 (UniProtKB/Swiss-Prot),   A8K416 (UniProtKB/Swiss-Prot),   A8K3Z1 (UniProtKB/Swiss-Prot),   Q9BT75 (UniProtKB/Swiss-Prot),   P12955 (UniProtKB/Swiss-Prot),   A0A140VJR2 (UniProtKB/TrEMBL),   J3K000 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159528   ⟸   NM_001166056
- Peptide Label: isoform 2
- UniProtKB: A0A8V8TNF2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000244137   ⟸   ENST00000244137
RefSeq Acc Id: ENSP00000498950   ⟸   ENST00000651646
RefSeq Acc Id: ENSP00000498922   ⟸   ENST00000651901
RefSeq Acc Id: ENSP00000468516   ⟸   ENST00000588328
RefSeq Acc Id: ENSP00000476667   ⟸   ENST00000590755
RefSeq Acc Id: ENSP00000476869   ⟸   ENST00000590408
RefSeq Acc Id: ENSP00000391890   ⟸   ENST00000436370
RefSeq Acc Id: ENSP00000380226   ⟸   ENST00000397032
RefSeq Acc Id: ENSP00000513721   ⟸   ENST00000698439
RefSeq Acc Id: ENSP00000513716   ⟸   ENST00000698430
RefSeq Acc Id: ENSP00000513685   ⟸   ENST00000698362
RefSeq Acc Id: ENSP00000513718   ⟸   ENST00000698432
RefSeq Acc Id: ENSP00000513713   ⟸   ENST00000698426
RefSeq Acc Id: ENSP00000513717   ⟸   ENST00000698431
RefSeq Acc Id: ENSP00000513720   ⟸   ENST00000698436
RefSeq Acc Id: ENSP00000513683   ⟸   ENST00000698360
RefSeq Acc Id: ENSP00000513715   ⟸   ENST00000698428
RefSeq Acc Id: ENSP00000513719   ⟸   ENST00000698435
RefSeq Acc Id: ENSP00000513714   ⟸   ENST00000698427
RefSeq Acc Id: ENSP00000513682   ⟸   ENST00000698359
RefSeq Acc Id: ENSP00000513684   ⟸   ENST00000698361
Protein Domains
Aminopeptidase P N-terminal   Peptidase M24

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P12955-F1-model_v2 AlphaFold P12955 1-493 view protein structure

Promoters
RGD ID:7239415
Promoter ID:EPDNEW_H25454
Type:initiation region
Name:PEPD_1
Description:peptidase D
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
GRCh381933,521,791 - 33,521,851EPDNEW
RGD ID:6795878
Promoter ID:HG_KWN:29555
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000244137,   NM_001166056,   NM_001166057
Position:
Human AssemblyChrPosition (strand)Source
Build 361938,704,246 - 38,704,746 (-)MPROMDB
RGD ID:6852114
Promoter ID:EP73863
Type:multiple initiation site
Name:HS_PEPD
Description:Peptidase D.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361938,704,535 - 38,704,595EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8840 AgrOrtholog
COSMIC PEPD COSMIC
Ensembl Genes ENSG00000124299 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000244137 ENTREZGENE
  ENST00000244137.12 UniProtKB/Swiss-Prot
  ENST00000397032 ENTREZGENE
  ENST00000397032.8 UniProtKB/Swiss-Prot
  ENST00000436370 ENTREZGENE
  ENST00000436370.7 UniProtKB/Swiss-Prot
  ENST00000588328.7 UniProtKB/TrEMBL
  ENST00000590408.1 UniProtKB/TrEMBL
  ENST00000590755.6 UniProtKB/TrEMBL
  ENST00000651646.2 UniProtKB/TrEMBL
  ENST00000651901.2 UniProtKB/TrEMBL
  ENST00000698359.1 UniProtKB/TrEMBL
  ENST00000698360.1 UniProtKB/TrEMBL
  ENST00000698361.1 UniProtKB/TrEMBL
  ENST00000698362.1 UniProtKB/TrEMBL
  ENST00000698426.1 UniProtKB/TrEMBL
  ENST00000698427.1 UniProtKB/TrEMBL
  ENST00000698428.1 UniProtKB/TrEMBL
  ENST00000698430.1 UniProtKB/TrEMBL
  ENST00000698431.1 UniProtKB/TrEMBL
  ENST00000698432.1 UniProtKB/TrEMBL
  ENST00000698435.1 UniProtKB/TrEMBL
  ENST00000698436.1 UniProtKB/TrEMBL
  ENST00000698439.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.350.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.230.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000124299 GTEx
HGNC ID HGNC:8840 ENTREZGENE
Human Proteome Map PEPD Human Proteome Map
InterPro Aminopep_P_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Creatin/AminoP/Spt16_NTD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Creatinase/aminopeptidase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M24B_aminopep-P_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5184 ENTREZGENE
OMIM 613230 OMIM
PANTHER PEPTIDASE D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR48392 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AMP_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33181 PharmGKB
PROSITE PROLINE_PEPTIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AMP_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53092 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55920 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJR2 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C165_HUMAN UniProtKB/TrEMBL
  A0A494C194_HUMAN UniProtKB/TrEMBL
  A0A8V8TLL9_HUMAN UniProtKB/TrEMBL
  A0A8V8TLN7_HUMAN UniProtKB/TrEMBL
  A0A8V8TLP2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TLP4_HUMAN UniProtKB/TrEMBL
  A0A8V8TLR1_HUMAN UniProtKB/TrEMBL
  A0A8V8TLR6_HUMAN UniProtKB/TrEMBL
  A0A8V8TM81_HUMAN UniProtKB/TrEMBL
  A0A8V8TM86_HUMAN UniProtKB/TrEMBL
  A0A8V8TN48_HUMAN UniProtKB/TrEMBL
  A0A8V8TN70_HUMAN UniProtKB/TrEMBL
  A0A8V8TNF2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TNH5_HUMAN UniProtKB/TrEMBL
  A8K3Z1 ENTREZGENE
  A8K416 ENTREZGENE
  A8K696 ENTREZGENE
  A8MX47 ENTREZGENE
  B4DDB7 ENTREZGENE
  B4DGJ1 ENTREZGENE
  E9PCE8 ENTREZGENE
  J3K000 ENTREZGENE, UniProtKB/TrEMBL
  K7ES25_HUMAN UniProtKB/TrEMBL
  P12955 ENTREZGENE, UniProtKB/Swiss-Prot
  Q8TBN9 ENTREZGENE
  Q9BT75 ENTREZGENE
  V9GYE4_HUMAN UniProtKB/TrEMBL
  V9GYL0_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K3Z1 UniProtKB/Swiss-Prot
  A8K416 UniProtKB/Swiss-Prot
  A8K696 UniProtKB/Swiss-Prot
  A8MX47 UniProtKB/Swiss-Prot
  B4DDB7 UniProtKB/Swiss-Prot
  B4DGJ1 UniProtKB/Swiss-Prot
  E9PCE8 UniProtKB/Swiss-Prot
  Q8TBN9 UniProtKB/Swiss-Prot
  Q9BT75 UniProtKB/Swiss-Prot