RETREG1 (reticulophagy regulator 1) - Rat Genome Database

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Gene: RETREG1 (reticulophagy regulator 1) Homo sapiens
Analyze
Symbol: RETREG1
Name: reticulophagy regulator 1
RGD ID: 1601869
HGNC Page HGNC:25964
Description: Predicted to enable endoplasmic reticulum-autophagosome adaptor activity. Involved in negative regulation of neuron apoptotic process; reticulophagy; and sensory perception of pain. Located in endoplasmic reticulum membrane; nuclear body; and nucleolus. Implicated in hereditary sensory and autonomic neuropathy type 2B.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FAM134B; family with sequence similarity 134 member B; family with sequence similarity 134, member B; FLJ20152; FLJ22155; FLJ22179; JK-1; JK1; reticulophagy receptor 1; reticulophagy receptor FAM134B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38516,473,053 - 16,616,997 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl516,473,038 - 16,617,101 (-)EnsemblGRCh38hg38GRCh38
GRCh37516,473,162 - 16,617,106 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36516,526,147 - 16,670,118 (-)NCBINCBI36Build 36hg18NCBI36
Celera516,496,766 - 16,640,783 (-)NCBICelera
Cytogenetic Map5p15.1NCBI
HuRef516,445,059 - 16,589,261 (-)NCBIHuRef
CHM1_1516,473,095 - 16,617,108 (-)NCBICHM1_1
T2T-CHM13v2.0516,412,398 - 16,556,330 (-)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)
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
aldrin  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
buspirone  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroethene  (ISO)
chlorogenic acid  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
fenthion  (ISO)
furan  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
glucose  (ISO)
glutathione  (ISO)
indometacin  (EXP)
inulin  (ISO)
iron dichloride  (EXP)
isotretinoin  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
levofloxacin  (ISO)
lipopolysaccharide  (EXP)
menadione  (EXP)
mercury dibromide  (EXP)
methapyrilene  (ISO)
methimazole  (ISO)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nevirapine  (ISO)
nickel sulfate  (EXP)
Nutlin-3  (EXP)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parathion  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP,ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propanal  (EXP)
propiconazole  (ISO)
raloxifene  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
tamoxifen  (EXP,ISO)
temozolomide  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cortical bone morphology  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Abnormal hip bone morphology  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of the ankle  (IAGP)
Abnormality of the knee  (IAGP)
Acral ulceration  (IAGP)
Acroosteolysis of distal phalanges (feet)  (IAGP)
Anhidrosis  (IAGP)
Areflexia  (IAGP)
Autoamputation of digits  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Childhood onset  (IAGP)
Decreased corneal reflex  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Decreased number of peripheral myelinated nerve fibers  (IAGP)
Decreased sensory nerve conduction velocity  (IAGP)
Delayed ability to walk  (IAGP)
Distal sensory impairment  (IAGP)
Dystrophic fingernails  (IAGP)
Dystrophic toenail  (IAGP)
Episodic hyperhidrosis  (IAGP)
Feeding difficulties in infancy  (IAGP)
Foot acroosteolysis  (IAGP)
Frequent falls  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Hyperactive deep tendon reflexes  (IAGP)
Hyperhidrosis  (IAGP)
Hyperlordosis  (IAGP)
Hypogeusia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Juvenile onset  (IAGP)
Lower limb muscle weakness  (IAGP)
Osteolysis  (IAGP)
Osteolytic defects of the phalanges of the hand  (IAGP)
Osteomyelitis  (IAGP)
Painless fractures due to injury  (IAGP)
Paronychia  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Progressive  (IAGP)
Reduced bone mineral density  (IAGP)
Scissor gait  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slowly progressive  (IAGP)
Spasticity  (IAGP)
Tapered finger  (IAGP)
Urinary incontinence  (IAGP)
Wormian bones  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:16344560   PMID:17207965   PMID:17487424   PMID:19838196   PMID:20379614   PMID:21089229   PMID:21115472   PMID:21127458   PMID:21832049   PMID:21873635  
PMID:23414517   PMID:24327336   PMID:24825067   PMID:24927874   PMID:24970562   PMID:24973512   PMID:26040720   PMID:26186194   PMID:26638075   PMID:27120410   PMID:27373372   PMID:28102736  
PMID:28144752   PMID:28298427   PMID:28514442   PMID:28549913   PMID:29318692   PMID:29395067   PMID:29568061   PMID:29867141   PMID:29937447   PMID:29964340   PMID:30556279   PMID:30559329  
PMID:30794892   PMID:31006538   PMID:31056421   PMID:31147549   PMID:31410188   PMID:31748416   PMID:31871319   PMID:31930741   PMID:32232851   PMID:32296183   PMID:32559118   PMID:32620754  
PMID:32716134   PMID:32814053   PMID:32857678   PMID:32877691   PMID:33052704   PMID:33373444   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34394825   PMID:34432599   PMID:34524948  
PMID:34929448   PMID:35239449   PMID:35271311   PMID:35575683   PMID:35914814   PMID:36215168   PMID:36949045   PMID:36952345   PMID:37043189   PMID:37225996   PMID:37273064   PMID:37448294  
PMID:37460952   PMID:37728036   PMID:37774976   PMID:37931956   PMID:38774969  


Genomics

Comparative Map Data
RETREG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38516,473,053 - 16,616,997 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl516,473,038 - 16,617,101 (-)EnsemblGRCh38hg38GRCh38
GRCh37516,473,162 - 16,617,106 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36516,526,147 - 16,670,118 (-)NCBINCBI36Build 36hg18NCBI36
Celera516,496,766 - 16,640,783 (-)NCBICelera
Cytogenetic Map5p15.1NCBI
HuRef516,445,059 - 16,589,261 (-)NCBIHuRef
CHM1_1516,473,095 - 16,617,108 (-)NCBICHM1_1
T2T-CHM13v2.0516,412,398 - 16,556,330 (-)NCBIT2T-CHM13v2.0
Retreg1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391525,840,795 - 25,973,782 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1525,843,266 - 25,973,773 (+)EnsemblGRCm39 Ensembl
GRCm381525,843,298 - 25,973,696 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1525,843,180 - 25,973,687 (+)EnsemblGRCm38mm10GRCm38
MGSCv371525,773,019 - 25,903,442 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361525,787,989 - 25,918,412 (+)NCBIMGSCv36mm8
Celera1526,616,789 - 26,745,263 (+)NCBICelera
Cytogenetic Map15B1NCBI
cM Map159.59NCBI
Retreg1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8278,045,435 - 78,205,316 (+)NCBIGRCr8
mRatBN7.2276,335,609 - 76,474,817 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl276,335,609 - 76,493,898 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx283,455,839 - 83,595,059 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0281,577,567 - 81,716,777 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0276,582,768 - 76,722,071 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0278,391,921 - 78,401,569 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl278,103,387 - 78,276,927 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl278,391,921 - 78,399,987 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0297,821,407 - 97,972,821 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4277,470,558 - 77,566,123 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera272,093,456 - 72,182,485 (+)NCBICelera
Cytogenetic Map2q22NCBI
Retreg1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554265,574,216 - 5,688,236 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554265,574,207 - 5,688,236 (-)NCBIChiLan1.0ChiLan1.0
RETREG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2416,704,829 - 16,851,099 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1514,858,454 - 15,004,650 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0516,774,596 - 16,920,948 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1516,612,583 - 16,756,808 (-)NCBIpanpan1.1PanPan1.1panPan2
RETREG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1486,817,391 - 86,921,119 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha486,323,200 - 86,438,561 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0487,442,470 - 87,564,197 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl487,442,238 - 87,587,920 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1486,965,905 - 87,080,546 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0487,202,448 - 87,317,283 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0488,059,445 - 88,174,500 (+)NCBIUU_Cfam_GSD_1.0
Retreg1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213210,176,692 - 210,316,851 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648019,114,768 - 19,253,352 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648019,114,753 - 19,253,346 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RETREG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl165,726,494 - 5,879,714 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1165,726,493 - 5,879,461 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2166,170,402 - 6,324,535 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RETREG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1416,153,003 - 16,297,252 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl416,154,694 - 16,297,161 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606412,181,901 - 12,326,336 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Retreg1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475113,376,502 - 13,501,918 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475113,377,583 - 13,502,144 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RETREG1
424 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2A [RCV002482894]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV000290526]|not provided [RCV000545765]|not specified [RCV000431969] Chr5:16475100 [GRCh38]
Chr5:16475209 [GRCh37]
Chr5:5p15.1		 benign|likely benign
NM_001034850.3(RETREG1):c.1145G>C (p.Ser382Thr) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000398988]|not provided [RCV000558146]|not specified [RCV000426631] Chr5:16475090 [GRCh38]
Chr5:16475199 [GRCh37]
Chr5:5p15.1		 benign|likely benign
NM_001034850.3(RETREG1):c.18_19del (p.Pro7fs) deletion Charcot-Marie-Tooth disease [RCV000789750]|Hereditary sensory and autonomic neuropathy type 2 [RCV003447085]|Inborn genetic diseases [RCV002460892]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV001843420]|not provided [RCV000794306] Chr5:16616953..16616954 [GRCh38]
Chr5:16617062..16617063 [GRCh37]
Chr5:5p15.1		 pathogenic|uncertain significance
NM_001034850.3(RETREG1):c.873+2T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV000789099]|Hereditary sensory and autonomic neuropathy type 2 [RCV003447086]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV001843421]|not provided [RCV004719655] Chr5:16478032 [GRCh38]
Chr5:16478141 [GRCh37]
Chr5:5p15.1		 pathogenic|uncertain significance
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789098]|Hereditary sensory and autonomic neuropathy type 2 [RCV003447062]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV000000356]|not provided [RCV000235652] Chr5:16477736 [GRCh38]
Chr5:16477845 [GRCh37]
Chr5:5p15.1		 pathogenic|likely pathogenic|uncertain significance
FAM134B, 2-BP DEL, 17CT deletion Hereditary sensory and autonomic neuropathy type IIB [RCV000000357] Chr5:5p15.1 pathogenic
NM_001034850.3(RETREG1):c.433C>T (p.Gln145Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789751]|Hereditary sensory and autonomic neuropathy type 2 [RCV003447063]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV000000358]|not provided [RCV000760442] Chr5:16565788 [GRCh38]
Chr5:16565897 [GRCh37]
Chr5:5p15.1		 pathogenic|uncertain significance
FAM134B, IVS7DS, T-C, +2 single nucleotide variant Hereditary sensory and autonomic neuropathy type IIB [RCV000000359] Chr5:5p15.1 pathogenic
NM_001034850.3(RETREG1):c.466G>T (p.Val156Phe) single nucleotide variant not provided [RCV001368774] Chr5:16483465 [GRCh38]
Chr5:16483574 [GRCh37]
Chr5:5p15.1		 uncertain significance
Single allele duplication Hereditary sensory and autonomic neuropathy type IIB [RCV000544295] Chr5:16474721..16481113 [GRCh38]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.31G>A (p.Glu11Lys) single nucleotide variant not provided [RCV000519593] Chr5:16616941 [GRCh38]
Chr5:16617050 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.2(FAM134B):c.321-8657A>T single nucleotide variant Lung cancer [RCV000095537] Chr5:16580759 [GRCh38]
Chr5:16580868 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 copy number loss See cases [RCV000053398] Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] Chr5:22149..17425613 [GRCh38]
Chr5:22149..17425722 [GRCh37]
Chr5:75149..17478722 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 copy number loss See cases [RCV000053419] Chr5:22419..19280892 [GRCh38]
Chr5:22419..19281001 [GRCh37]
Chr5:75419..19316758 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 copy number loss See cases [RCV000053422] Chr5:49778..16908798 [GRCh38]
Chr5:49893..16908907 [GRCh37]
Chr5:102893..16961907 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 copy number loss See cases [RCV000053424] Chr5:49778..19125522 [GRCh38]
Chr5:49893..19125631 [GRCh37]
Chr5:102893..19161388 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1 copy number loss See cases [RCV000053446] Chr5:2180761..17602433 [GRCh38]
Chr5:2180875..17602542 [GRCh37]
Chr5:2233875..17645646 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1 copy number loss See cases [RCV000053447] Chr5:13609772..21930280 [GRCh38]
Chr5:13609881..21930389 [GRCh37]
Chr5:13662881..21966146 [NCBI36]
Chr5:5p15.2-14.3		 pathogenic
NM_001034850.3(RETREG1):c.603T>C (p.Cys201=) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000331658]|not provided [RCV000527984]|not specified [RCV000124960] Chr5:16481076 [GRCh38]
Chr5:16481185 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.826del (p.Ser276fs) deletion Charcot-Marie-Tooth disease [RCV000789749]|Hereditary sensory and autonomic neuropathy type 2 [RCV003447122]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV000185604] Chr5:16478081 [GRCh38]
Chr5:16478190 [GRCh37]
Chr5:5p15.1		 pathogenic|uncertain significance
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 copy number loss See cases [RCV000133768] Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 copy number loss See cases [RCV000134873] Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 copy number loss See cases [RCV000135878] Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 copy number loss See cases [RCV000136556] Chr5:22149..16584575 [GRCh38]
Chr5:22149..16584684 [GRCh37]
Chr5:75149..16637684 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.2-15.1(chr5:12572563-17965988)x1 copy number loss See cases [RCV000136041] Chr5:12572563..17965988 [GRCh38]
Chr5:12572675..17966097 [GRCh37]
Chr5:12625675..18001854 [NCBI36]
Chr5:5p15.2-15.1		 pathogenic
GRCh38/hg38 5p15.2-15.1(chr5:10212880-16770474)x3 copy number gain See cases [RCV000136902] Chr5:10212880..16770474 [GRCh38]
Chr5:10212992..16770583 [GRCh37]
Chr5:10265992..16823583 [NCBI36]
Chr5:5p15.2-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 copy number loss See cases [RCV000137072] Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 copy number gain See cases [RCV000137682] Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 copy number loss See cases [RCV000137165] Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 copy number loss See cases [RCV000138116] Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 copy number loss See cases [RCV000138099] Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 copy number gain See cases [RCV000137806] Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 copy number loss See cases [RCV000138553] Chr5:22149..21217120 [GRCh38]
Chr5:22149..21217229 [GRCh37]
Chr5:75149..21252986 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 copy number loss See cases [RCV000138288] Chr5:22149..17788697 [GRCh38]
Chr5:22149..17788806 [GRCh37]
Chr5:75149..17824563 [NCBI36]
Chr5:5p15.33-15.1		 likely benign
GRCh38/hg38 5p15.1(chr5:16540213-16659844)x3 copy number gain See cases [RCV000140373] Chr5:16540213..16659844 [GRCh38]
Chr5:16540322..16659953 [GRCh37]
Chr5:16593322..16712953 [NCBI36]
Chr5:5p15.1		 likely benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 copy number loss See cases [RCV000141225] Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 copy number loss See cases [RCV000140964] Chr5:22149..16930016 [GRCh38]
Chr5:22149..16930125 [GRCh37]
Chr5:75149..16983125 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1 copy number loss See cases [RCV000141795] Chr5:4932707..18465361 [GRCh38]
Chr5:4932820..18465470 [GRCh37]
Chr5:4985820..18501227 [NCBI36]
Chr5:5p15.32-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 copy number loss See cases [RCV000143022] Chr5:22149..21726360 [GRCh38]
Chr5:22149..21726469 [GRCh37]
Chr5:75149..21762226 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 copy number loss See cases [RCV000142934] Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 copy number loss See cases [RCV000142645] Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.1-14.3(chr5:16456444-18561765)x1 copy number loss See cases [RCV000143153] Chr5:16456444..18561765 [GRCh38]
Chr5:16456553..18561874 [GRCh37]
Chr5:16509553..18597631 [NCBI36]
Chr5:5p15.1-14.3		 uncertain significance
NM_001034850.3(RETREG1):c.750G>T (p.Leu250=) single nucleotide variant Inborn genetic diseases [RCV002460957]|RETREG1-related disorder [RCV003907626]|not provided [RCV000179359] Chr5:16478908 [GRCh38]
Chr5:16479017 [GRCh37]
Chr5:5p15.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001034850.3(RETREG1):c.*1641A>G single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000265435] Chr5:16473100 [GRCh38]
Chr5:16473209 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*592G>A single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000262748]|not provided [RCV004716326] Chr5:16474149 [GRCh38]
Chr5:16474258 [GRCh37]
Chr5:5p15.1		 benign|likely benign
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 copy number loss See cases [RCV000515550] Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 copy number gain not provided [RCV000234904] Chr5:25328..19661628 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) copy number loss 5p partial monosomy syndrome [RCV000767709] Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_001034850.3(RETREG1):c.44C>T (p.Pro15Leu) single nucleotide variant Inborn genetic diseases [RCV002516202]|not provided [RCV000221239] Chr5:16616928 [GRCh38]
Chr5:16617037 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.607G>A (p.Val203Met) single nucleotide variant Inborn genetic diseases [RCV002461027]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV001000463]|not provided [RCV000540992] Chr5:16481072 [GRCh38]
Chr5:16481181 [GRCh37]
Chr5:5p15.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001034850.3(RETREG1):c.797G>C (p.Arg266Pro) single nucleotide variant not provided [RCV000235622] Chr5:16478861 [GRCh38]
Chr5:16478970 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.280C>G (p.Arg94Gly) single nucleotide variant Inborn genetic diseases [RCV002518433]|not provided [RCV000236927] Chr5:16616692 [GRCh38]
Chr5:16616801 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1426C>G (p.Gln476Glu) single nucleotide variant not provided [RCV001327225] Chr5:16474809 [GRCh38]
Chr5:16474918 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
NM_001034850.3(RETREG1):c.1000+20G>T single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000608794]|not provided [RCV001724093] Chr5:16477642 [GRCh38]
Chr5:16477751 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.137A>G (p.Glu46Gly) single nucleotide variant Inborn genetic diseases [RCV002461275]|not provided [RCV000521211] Chr5:16616835 [GRCh38]
Chr5:16616944 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*1012G>A single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000266736]|not provided [RCV004716325] Chr5:16473729 [GRCh38]
Chr5:16473838 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.438G>A (p.Leu146=) single nucleotide variant Inborn genetic diseases [RCV002461102]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV000278018]|not provided [RCV000534973]|not specified [RCV000419731] Chr5:16565783 [GRCh38]
Chr5:16565892 [GRCh37]
Chr5:5p15.1		 benign|likely benign
NM_001034850.3(RETREG1):c.321-10G>A single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000332947] Chr5:16572112 [GRCh38]
Chr5:16572221 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.6G>A (p.Ala2=) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000377301] Chr5:16616966 [GRCh38]
Chr5:16617075 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*1170A>G single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000302118] Chr5:16473571 [GRCh38]
Chr5:16473680 [GRCh37]
Chr5:5p15.1		 likely benign|uncertain significance
NM_001034850.3(RETREG1):c.808+6T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000402002]|not provided [RCV001217130] Chr5:16478844 [GRCh38]
Chr5:16478953 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*498G>A single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000318050] Chr5:16474243 [GRCh38]
Chr5:16474352 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.723A>G (p.Lys241=) single nucleotide variant Inborn genetic diseases [RCV002461101]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV000357455] Chr5:16478935 [GRCh38]
Chr5:16479044 [GRCh37]
Chr5:5p15.1		 likely benign|uncertain significance
NM_001034850.3(RETREG1):c.816C>T (p.Asp272=) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000615714]|not provided [RCV001521222]|not specified [RCV001700342] Chr5:16478091 [GRCh38]
Chr5:16478200 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.*55del deletion Hereditary sensory and autonomic neuropathy type 2 [RCV000288886] Chr5:16474686 [GRCh38]
Chr5:16474795 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.22G>A (p.Glu8Lys) single nucleotide variant Inborn genetic diseases [RCV002461103]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV000290998]|not provided [RCV000702166] Chr5:16616950 [GRCh38]
Chr5:16617059 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.953C>T (p.Thr318Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type 2 [RCV000305670]|Inborn genetic diseases [RCV002461099]|not provided [RCV001298213] Chr5:16477709 [GRCh38]
Chr5:16477818 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1089T>C (p.Asp363=) single nucleotide variant Inborn genetic diseases [RCV002461097]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV000340856]|not provided [RCV000552156] Chr5:16475146 [GRCh38]
Chr5:16475255 [GRCh37]
Chr5:5p15.1		 benign|likely benign|uncertain significance
NM_001034850.3(RETREG1):c.*206A>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000292271]|not provided [RCV001613168] Chr5:16474535 [GRCh38]
Chr5:16474644 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.6G>C (p.Ala2=) single nucleotide variant Inborn genetic diseases [RCV002461104]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV000327237]|not provided [RCV000553484] Chr5:16616966 [GRCh38]
Chr5:16617075 [GRCh37]
Chr5:5p15.1		 likely benign|uncertain significance
NM_001034850.3(RETREG1):c.796C>T (p.Arg266Cys) single nucleotide variant Inborn genetic diseases [RCV002461100]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV001002203]|not provided [RCV000523712] Chr5:16478862 [GRCh38]
Chr5:16478971 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.-19T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001286758]|not provided [RCV004715840]|not specified [RCV000303542] Chr5:16616990 [GRCh38]
Chr5:16617099 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.*455dup duplication Hereditary sensory and autonomic neuropathy type 2 [RCV000386546] Chr5:16474285..16474286 [GRCh38]
Chr5:16474394..16474395 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.*71dup duplication Hereditary sensory and autonomic neuropathy type 2 [RCV000387861]|not provided [RCV001692014] Chr5:16474669..16474670 [GRCh38]
Chr5:16474778..16474779 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.1182T>C (p.Ala394=) single nucleotide variant Inborn genetic diseases [RCV002461057]|not provided [RCV000361585] Chr5:16475053 [GRCh38]
Chr5:16475162 [GRCh37]
Chr5:5p15.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001034850.3(RETREG1):c.*71del deletion not provided [RCV001564373] Chr5:16474670 [GRCh38]
Chr5:16474779 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.804A>T (p.Arg268Ser) single nucleotide variant not provided [RCV001760753] Chr5:16478854 [GRCh38]
Chr5:16478963 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1443G>C (p.Gln481His) single nucleotide variant not provided [RCV000522654] Chr5:16474792 [GRCh38]
Chr5:16474901 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*70_*71dup duplication not provided [RCV001547447] Chr5:16474669..16474670 [GRCh38]
Chr5:16474778..16474779 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.*1160T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000361477] Chr5:16473581 [GRCh38]
Chr5:16473690 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1013C>T (p.Pro338Leu) single nucleotide variant Inborn genetic diseases [RCV002461098]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV000685261]|not provided [RCV001312223] Chr5:16475222 [GRCh38]
Chr5:16475331 [GRCh37]
Chr5:5p15.1		 likely benign|uncertain significance
NM_001034850.3(RETREG1):c.76_81dup (p.Ser26_Pro27dup) duplication Hereditary sensory and autonomic neuropathy type 2 [RCV000382893]|not provided [RCV002523516] Chr5:16616890..16616891 [GRCh38]
Chr5:16616999..16617000 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*913G>T single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000317267] Chr5:16473828 [GRCh38]
Chr5:16473937 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.442A>G (p.Arg148Gly) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000367896] Chr5:16565779 [GRCh38]
Chr5:16565888 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*123T>G single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000351896] Chr5:16474618 [GRCh38]
Chr5:16474727 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*853G>A single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000371489] Chr5:16473888 [GRCh38]
Chr5:16473997 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1300C>G (p.Gln434Glu) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000344437] Chr5:16474935 [GRCh38]
Chr5:16475044 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.606T>A (p.Ser202Arg) single nucleotide variant not specified [RCV000414431] Chr5:16481073 [GRCh38]
Chr5:16481182 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.19C>G (p.Pro7Ala) single nucleotide variant Inborn genetic diseases [RCV002461312]|not provided [RCV001343484] Chr5:16616953 [GRCh38]
Chr5:16617062 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1110C>T (p.Pro370=) single nucleotide variant Inborn genetic diseases [RCV002461311]|not provided [RCV001478142] Chr5:16475125 [GRCh38]
Chr5:16475234 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1226T>C (p.Met409Thr) single nucleotide variant not specified [RCV000413728] Chr5:16475009 [GRCh38]
Chr5:16475118 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.904T>C (p.Ser302Pro) single nucleotide variant not specified [RCV000413909] Chr5:16477758 [GRCh38]
Chr5:16477867 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 copy number loss See cases [RCV000449097] Chr5:113576..16854340 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3 copy number gain See cases [RCV000449100] Chr5:3159498..30585683 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 copy number gain See cases [RCV000446077] Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 copy number loss See cases [RCV000447672] Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.1(chr5:16384928-16969392)x1 copy number loss See cases [RCV000446370] Chr5:16384928..16969392 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 copy number loss See cases [RCV000446645] Chr5:113576..17334977 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 copy number loss See cases [RCV000446054] Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 copy number loss See cases [RCV000447462] Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_001034850.3(RETREG1):c.379C>T (p.Arg127Cys) single nucleotide variant Inborn genetic diseases [RCV002461139]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV000999776]|RETREG1-related disorder [RCV003912615]|not provided [RCV000756130]|not specified [RCV000444223] Chr5:16572044 [GRCh38]
Chr5:16572153 [GRCh37]
Chr5:5p15.1		 benign|likely benign
GRCh37/hg19 5p15.31-13.3(chr5:7806183-31019599)x1 copy number loss See cases [RCV000445859] Chr5:7806183..31019599 [GRCh37]
Chr5:5p15.31-13.3		 pathogenic
NM_001034850.3(RETREG1):c.380G>A (p.Arg127His) single nucleotide variant Inborn genetic diseases [RCV002461142]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV000527046]|not provided [RCV000657003] Chr5:16572043 [GRCh38]
Chr5:16572152 [GRCh37]
Chr5:5p15.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001034850.3(RETREG1):c.459-25093T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001803721]|not provided [RCV004716445]|not specified [RCV000433232] Chr5:16508565 [GRCh38]
Chr5:16508674 [GRCh37]
Chr5:5p15.1		 benign
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 copy number loss See cases [RCV000448521] Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 copy number loss See cases [RCV000448408] Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.31-14.2(chr5:9120813-24274030)x1 copy number loss See cases [RCV000448421] Chr5:9120813..24274030 [GRCh37]
Chr5:5p15.31-14.2		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 copy number loss See cases [RCV000447737] Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 copy number loss See cases [RCV000512066] Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_001034850.3(RETREG1):c.809A>C (p.Glu270Ala) single nucleotide variant Inborn genetic diseases [RCV004659064]|not provided [RCV000479581] Chr5:16478098 [GRCh38]
Chr5:16478207 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.2(RETREG1):c.-45_-44CG[6] microsatellite not specified [RCV000478272] Chr5:16617005..16617006 [GRCh38]
Chr5:16617114..16617115 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.2(RETREG1):c.-52_-41delGCGCGCCCGCGC deletion not specified [RCV000483163] Chr5:16617003..16617014 [GRCh38]
Chr5:16617112..16617123 [GRCh37]
Chr5:5p15.1		 likely benign
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 copy number loss See cases [RCV000510193] Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del) microsatellite Inborn genetic diseases [RCV002461264]|not provided [RCV000702424]|not specified [RCV000506405] Chr5:16474780..16474782 [GRCh38]
Chr5:16474889..16474891 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 copy number loss See cases [RCV000510921] Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 copy number loss See cases [RCV000510786] Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
NM_001034850.3(RETREG1):c.1418C>G (p.Thr473Arg) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000534205]|not provided [RCV001853714] Chr5:16474817 [GRCh38]
Chr5:16474926 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.379C>G (p.Arg127Gly) single nucleotide variant not provided [RCV001313535] Chr5:16572044 [GRCh38]
Chr5:16572153 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.22G>C (p.Glu8Gln) single nucleotide variant Inborn genetic diseases [RCV002461954]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV001335568]|not provided [RCV000647302] Chr5:16616950 [GRCh38]
Chr5:16617059 [GRCh37]
Chr5:5p15.1		 likely benign|uncertain significance
NM_001034850.3(RETREG1):c.17C>T (p.Pro6Leu) single nucleotide variant Inborn genetic diseases [RCV002533337]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV001158110]|not provided [RCV000647303] Chr5:16616955 [GRCh38]
Chr5:16617064 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.999T>A (p.Asp333Glu) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000647308] Chr5:16477663 [GRCh38]
Chr5:16477772 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.285C>G (p.Ser95Arg) single nucleotide variant not provided [RCV001301212] Chr5:16616687 [GRCh38]
Chr5:16616796 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.457A>G (p.Ser153Gly) single nucleotide variant not provided [RCV001314147] Chr5:16565764 [GRCh38]
Chr5:16565873 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1415T>C (p.Leu472Pro) single nucleotide variant not provided [RCV001305136] Chr5:16474820 [GRCh38]
Chr5:16474929 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1026T>C (p.Val342=) single nucleotide variant Inborn genetic diseases [RCV002461957]|not provided [RCV001487996] Chr5:16475209 [GRCh38]
Chr5:16475318 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.207C>G (p.Thr69=) single nucleotide variant not provided [RCV000647314] Chr5:16616765 [GRCh38]
Chr5:16616874 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.18T>G (p.Pro6=) single nucleotide variant Inborn genetic diseases [RCV002461958]|not provided [RCV000647315] Chr5:16616954 [GRCh38]
Chr5:16617063 [GRCh37]
Chr5:5p15.1		 likely benign
NC_000005.9:g.(?_16616741)_(16617100_?)dup duplication Neuropathy, hereditary sensory and autonomic, type 2B [RCV000647317]|not provided [RCV001370465] Chr5:16616632..16616991 [GRCh38]
Chr5:16616741..16617100 [GRCh37]
Chr5:5p15.1		 uncertain significance|no classifications from unflagged records
NM_001034850.3(RETREG1):c.339A>G (p.Pro113=) single nucleotide variant Inborn genetic diseases [RCV002461914]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV001803884]|not provided [RCV000647316]|not specified [RCV000601378] Chr5:16572084 [GRCh38]
Chr5:16572193 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.42C>T (p.Cys14=) single nucleotide variant Inborn genetic diseases [RCV002461926]|not provided [RCV002528625]|not specified [RCV000602495] Chr5:16616930 [GRCh38]
Chr5:16617039 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.788A>C (p.Gln263Pro) single nucleotide variant Inborn genetic diseases [RCV003263526] Chr5:16478870 [GRCh38]
Chr5:16478979 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.-16G>A single nucleotide variant not specified [RCV000612667] Chr5:16616987 [GRCh38]
Chr5:16617096 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.2(RETREG1):c.-45_-44CG[4] microsatellite not specified [RCV000613629] Chr5:16617006..16617007 [GRCh38]
Chr5:16617115..16617116 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.459-17dup duplication not provided [RCV002064277]|not specified [RCV000616748] Chr5:16483488..16483489 [GRCh38]
Chr5:16483597..16483598 [GRCh37]
Chr5:5p15.1		 benign|likely benign
NM_001034850.3(RETREG1):c.1236G>C (p.Leu412=) single nucleotide variant Inborn genetic diseases [RCV002461911]|not provided [RCV000874508]|not specified [RCV000608478] Chr5:16474999 [GRCh38]
Chr5:16475108 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.232T>C (p.Trp78Arg) single nucleotide variant not provided [RCV001300247] Chr5:16616740 [GRCh38]
Chr5:16616849 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.2(RETREG1):c.-27C>G single nucleotide variant not provided [RCV004711238]|not specified [RCV000611984] Chr5:16616998 [GRCh38]
Chr5:16617107 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.509G>C (p.Cys170Ser) single nucleotide variant Inborn genetic diseases [RCV002461953]|not provided [RCV001365606] Chr5:16483422 [GRCh38]
Chr5:16483531 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.98C>A (p.Ser33Tyr) single nucleotide variant not provided [RCV001305135] Chr5:16616874 [GRCh38]
Chr5:16616983 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1207G>A (p.Asp403Asn) single nucleotide variant not provided [RCV001371175] Chr5:16475028 [GRCh38]
Chr5:16475137 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1219C>T (p.His407Tyr) single nucleotide variant not provided [RCV001314412] Chr5:16475016 [GRCh38]
Chr5:16475125 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.86C>T (p.Pro29Leu) single nucleotide variant Inborn genetic diseases [RCV002461955]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV001158109]|not provided [RCV000756131] Chr5:16616886 [GRCh38]
Chr5:16616995 [GRCh37]
Chr5:5p15.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001034850.3(RETREG1):c.1378C>G (p.Gln460Glu) single nucleotide variant not provided [RCV001314522] Chr5:16474857 [GRCh38]
Chr5:16474966 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.555G>A (p.Met185Ile) single nucleotide variant Inborn genetic diseases [RCV002461956]|not provided [RCV000647306] Chr5:16483376 [GRCh38]
Chr5:16483485 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.210G>T (p.Trp70Cys) single nucleotide variant Inborn genetic diseases [RCV002533338]|not provided [RCV001315171] Chr5:16616762 [GRCh38]
Chr5:16616871 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.964T>C (p.Ser322Pro) single nucleotide variant not provided [RCV001349258] Chr5:16477698 [GRCh38]
Chr5:16477807 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 copy number gain See cases [RCV000512567] Chr5:113576..20240392 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 copy number loss not provided [RCV000682515] Chr5:113576..19167699 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.32-14.3(chr5:5830053-19490899)x1 copy number loss not provided [RCV000682520] Chr5:5830053..19490899 [GRCh37]
Chr5:5p15.32-14.3		 pathogenic
GRCh37/hg19 5p15.2-15.1(chr5:10515035-17607385)x1 copy number loss not provided [RCV000682524] Chr5:10515035..17607385 [GRCh37]
Chr5:5p15.2-15.1		 pathogenic
NM_001034850.3(RETREG1):c.68C>T (p.Ala23Val) single nucleotide variant not provided [RCV001373744] Chr5:16616904 [GRCh38]
Chr5:16617013 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.1(chr5:16609762-16999804)x3 copy number gain not provided [RCV000682530] Chr5:16609762..16999804 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.841A>G (p.Ser281Gly) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV000702380]|not provided [RCV001868314] Chr5:16478066 [GRCh38]
Chr5:16478175 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.443G>C (p.Arg148Thr) single nucleotide variant Inborn genetic diseases [RCV004025233]|not provided [RCV000695164] Chr5:16565778 [GRCh38]
Chr5:16565887 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1169C>T (p.Thr390Met) single nucleotide variant Inborn genetic diseases [RCV002462052]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV000702427]|not provided [RCV001201369] Chr5:16475066 [GRCh38]
Chr5:16475175 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1490A>G (p.His497Arg) single nucleotide variant not provided [RCV001301943] Chr5:16474745 [GRCh38]
Chr5:16474854 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.691C>T (p.Pro231Ser) single nucleotide variant not provided [RCV001297011] Chr5:16478967 [GRCh38]
Chr5:16479076 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.103G>A (p.Ala35Thr) single nucleotide variant Inborn genetic diseases [RCV002462059]|not provided [RCV000706612] Chr5:16616869 [GRCh38]
Chr5:16616978 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.850G>T (p.Asp284Tyr) single nucleotide variant not provided [RCV001313061] Chr5:16478057 [GRCh38]
Chr5:16478166 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1009C>T (p.Arg337Ter) single nucleotide variant not provided [RCV000691467] Chr5:16475226 [GRCh38]
Chr5:16475335 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.687G>T (p.Leu229Phe) single nucleotide variant Inborn genetic diseases [RCV004026331]|not provided [RCV000689460] Chr5:16478971 [GRCh38]
Chr5:16479080 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.459-25563G>A single nucleotide variant not provided [RCV001565986] Chr5:16509035 [GRCh38]
Chr5:16509144 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.224C>G (p.Pro75Arg) single nucleotide variant not provided [RCV000806082] Chr5:16616748 [GRCh38]
Chr5:16616857 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.808+158T>C single nucleotide variant not provided [RCV001567661] Chr5:16478692 [GRCh38]
Chr5:16478801 [GRCh37]
Chr5:5p15.1		 likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 copy number loss not provided [RCV000744320] Chr5:25328..18662625 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 copy number gain not provided [RCV000744321] Chr5:25328..18698028 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 copy number loss not provided [RCV000744322] Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_001034850.3(RETREG1):c.786T>C (p.Asn262=) single nucleotide variant not provided [RCV000976855] Chr5:16478872 [GRCh38]
Chr5:16478981 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.671-16C>G single nucleotide variant not provided [RCV001611040] Chr5:16479003 [GRCh38]
Chr5:16479112 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.459-24839T>G single nucleotide variant not provided [RCV001545159] Chr5:16508311 [GRCh38]
Chr5:16508420 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.321-128dup duplication not provided [RCV001641370] Chr5:16572213..16572214 [GRCh38]
Chr5:16572322..16572323 [GRCh37]
Chr5:5p15.1		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_001034850.3(RETREG1):c.1408T>C (p.Leu470=) single nucleotide variant not provided [RCV000876809] Chr5:16474827 [GRCh38]
Chr5:16474936 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.874-4A>G single nucleotide variant not provided [RCV000924150] Chr5:16477792 [GRCh38]
Chr5:16477901 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1001-5C>T single nucleotide variant not provided [RCV000927031] Chr5:16475239 [GRCh38]
Chr5:16475348 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1153A>C (p.Arg385=) single nucleotide variant not provided [RCV000876312] Chr5:16475082 [GRCh38]
Chr5:16475191 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.171G>A (p.Val57=) single nucleotide variant not provided [RCV000878269] Chr5:16616801 [GRCh38]
Chr5:16616910 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.879C>G (p.Ser293Arg) single nucleotide variant not provided [RCV001071101] Chr5:16477783 [GRCh38]
Chr5:16477892 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.13_14delinsAG (p.Ala5Arg) indel not provided [RCV001050859] Chr5:16616958..16616959 [GRCh38]
Chr5:16617067..16617068 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.100C>A (p.Pro34Thr) single nucleotide variant not provided [RCV001051301] Chr5:16616872 [GRCh38]
Chr5:16616981 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.623C>T (p.Thr208Met) single nucleotide variant not provided [RCV001051612] Chr5:16481056 [GRCh38]
Chr5:16481165 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.98C>T (p.Ser33Phe) single nucleotide variant not provided [RCV001068735] Chr5:16616874 [GRCh38]
Chr5:16616983 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.168G>C (p.Gln56His) single nucleotide variant not provided [RCV001069611] Chr5:16616804 [GRCh38]
Chr5:16616913 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.797G>A (p.Arg266His) single nucleotide variant Inborn genetic diseases [RCV002555891]|not provided [RCV001070026] Chr5:16478861 [GRCh38]
Chr5:16478970 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.2(RETREG1):c.-34C>T single nucleotide variant not provided [RCV000828190] Chr5:16617005 [GRCh38]
Chr5:16617114 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.571C>T (p.Gln191Ter) single nucleotide variant not provided [RCV000807598] Chr5:16483360 [GRCh38]
Chr5:16483469 [GRCh37]
Chr5:5p15.1		 pathogenic
NM_001034850.3(RETREG1):c.921C>T (p.Asp307=) single nucleotide variant not provided [RCV000876514] Chr5:16477741 [GRCh38]
Chr5:16477850 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.18T>A (p.Pro6=) single nucleotide variant not provided [RCV000920370] Chr5:16616954 [GRCh38]
Chr5:16617063 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.246C>A (p.Arg82=) single nucleotide variant not provided [RCV000939646] Chr5:16616726 [GRCh38]
Chr5:16616835 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1477C>T (p.Leu493=) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001158007]|RETREG1-related disorder [RCV003975449]|not provided [RCV000873316] Chr5:16474758 [GRCh38]
Chr5:16474867 [GRCh37]
Chr5:5p15.1		 likely benign|uncertain significance
NM_001034850.3(RETREG1):c.615A>G (p.Thr205=) single nucleotide variant not provided [RCV000932047] Chr5:16481064 [GRCh38]
Chr5:16481173 [GRCh37]
Chr5:5p15.1		 likely benign
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 copy number loss not provided [RCV001005642] Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2		 pathogenic
NM_001034850.3(RETREG1):c.725T>C (p.Ile242Thr) single nucleotide variant not provided [RCV000813709] Chr5:16478933 [GRCh38]
Chr5:16479042 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1154G>C (p.Arg385Thr) single nucleotide variant Inborn genetic diseases [RCV003166097]|not provided [RCV000792954] Chr5:16475081 [GRCh38]
Chr5:16475190 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.803G>C (p.Arg268Thr) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2A [RCV002478894]|not provided [RCV000814148] Chr5:16478855 [GRCh38]
Chr5:16478964 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.832A>G (p.Lys278Glu) single nucleotide variant not provided [RCV000806931] Chr5:16478075 [GRCh38]
Chr5:16478184 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.428G>A (p.Gly143Asp) single nucleotide variant not provided [RCV000815175] Chr5:16565793 [GRCh38]
Chr5:16565902 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.459-25317A>G single nucleotide variant not provided [RCV000839874] Chr5:16508789 [GRCh38]
Chr5:16508898 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.691C>G (p.Pro231Ala) single nucleotide variant not provided [RCV001323591] Chr5:16478967 [GRCh38]
Chr5:16479076 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.671-124T>C single nucleotide variant not provided [RCV000829661] Chr5:16479111 [GRCh38]
Chr5:16479220 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.1262T>C (p.Val421Ala) single nucleotide variant not provided [RCV000803641] Chr5:16474973 [GRCh38]
Chr5:16475082 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.458+158G>A single nucleotide variant not provided [RCV000836809] Chr5:16565605 [GRCh38]
Chr5:16565714 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.459-25755C>T single nucleotide variant not provided [RCV000826911] Chr5:16509227 [GRCh38]
Chr5:16509336 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.873+60C>T single nucleotide variant not provided [RCV000837146] Chr5:16477974 [GRCh38]
Chr5:16478083 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.1000+198A>G single nucleotide variant not provided [RCV000837147] Chr5:16477464 [GRCh38]
Chr5:16477573 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.1000+248G>A single nucleotide variant not provided [RCV000837148] Chr5:16477414 [GRCh38]
Chr5:16477523 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.208T>A (p.Trp70Arg) single nucleotide variant not provided [RCV001338329] Chr5:16616764 [GRCh38]
Chr5:16616873 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.459-25249del deletion not provided [RCV000841625] Chr5:16508721 [GRCh38]
Chr5:16508830 [GRCh37]
Chr5:5p15.1		 benign
GRCh37/hg19 5p15.2-14.3(chr5:11182916-18624750)x3 copy number gain not provided [RCV000849007] Chr5:11182916..18624750 [GRCh37]
Chr5:5p15.2-14.3		 uncertain significance
NM_001034850.3(RETREG1):c.734A>G (p.Lys245Arg) single nucleotide variant not provided [RCV000803396] Chr5:16478924 [GRCh38]
Chr5:16479033 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.614C>T (p.Thr205Ile) single nucleotide variant not provided [RCV001337392] Chr5:16481065 [GRCh38]
Chr5:16481174 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.459-25602T>C single nucleotide variant not provided [RCV000839552] Chr5:16509074 [GRCh38]
Chr5:16509074..16509075 [GRCh38]
Chr5:16509183 [GRCh37]
Chr5:16509183..16509184 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.671-55T>C single nucleotide variant not provided [RCV000832714] Chr5:16479042 [GRCh38]
Chr5:16479151 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.873+23T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001702731]|not provided [RCV000832715] Chr5:16478011 [GRCh38]
Chr5:16478120 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.23A>G (p.Glu8Gly) single nucleotide variant Inborn genetic diseases [RCV002462137]|not provided [RCV000792072] Chr5:16616949 [GRCh38]
Chr5:16617058 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.459-6C>G single nucleotide variant not provided [RCV000873157] Chr5:16483478 [GRCh38]
Chr5:16483587 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.286C>T (p.Leu96=) single nucleotide variant not provided [RCV000920059] Chr5:16616686 [GRCh38]
Chr5:16616795 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.743C>T (p.Ser248Leu) single nucleotide variant not provided [RCV001856248] Chr5:16478915 [GRCh38]
Chr5:16479024 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.364G>A (p.Val122Ile) single nucleotide variant not provided [RCV001341329] Chr5:16572059 [GRCh38]
Chr5:16572168 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.494C>T (p.Pro165Leu) single nucleotide variant not provided [RCV000792370] Chr5:16483437 [GRCh38]
Chr5:16483546 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.428-310G>A single nucleotide variant not provided [RCV000826910] Chr5:16566103 [GRCh38]
Chr5:16566212 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.670+56G>A single nucleotide variant not provided [RCV000829660] Chr5:16480953 [GRCh38]
Chr5:16481062 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.87G>T (p.Pro29=) single nucleotide variant not provided [RCV000827104] Chr5:16616885 [GRCh38]
Chr5:16616994 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.19C>T (p.Pro7Ser) single nucleotide variant Inborn genetic diseases [RCV002462144]|not provided [RCV000795543] Chr5:16616953 [GRCh38]
Chr5:16617062 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.1(chr5:16526710-16743952)x3 copy number gain not provided [RCV000847625] Chr5:16526710..16743952 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.458+2T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001169985] Chr5:16565761 [GRCh38]
Chr5:16565870 [GRCh37]
Chr5:5p15.1		 pathogenic
NM_001034850.3(RETREG1):c.900G>A (p.Glu300=) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001152533]|not provided [RCV002070852] Chr5:16477762 [GRCh38]
Chr5:16477871 [GRCh37]
Chr5:5p15.1		 likely benign|uncertain significance
NM_001034850.3(RETREG1):c.959A>C (p.Asn320Thr) single nucleotide variant not provided [RCV001055051] Chr5:16477703 [GRCh38]
Chr5:16477812 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*1653G>A single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001152449] Chr5:16473088 [GRCh38]
Chr5:16473197 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.1(chr5:16546131-16625287)x1 copy number loss not provided [RCV001005657] Chr5:16546131..16625287 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.841_852del (p.Ser281_Asp284del) deletion not provided [RCV001963860] Chr5:16478055..16478066 [GRCh38]
Chr5:16478164..16478175 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1089T>G (p.Asp363Glu) single nucleotide variant Inborn genetic diseases [RCV004659379]|not provided [RCV001201752] Chr5:16475146 [GRCh38]
Chr5:16475255 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1137G>C (p.Gln379His) single nucleotide variant not provided [RCV001214077] Chr5:16475098 [GRCh38]
Chr5:16475207 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1400A>G (p.Glu467Gly) single nucleotide variant not provided [RCV001221230] Chr5:16474835 [GRCh38]
Chr5:16474944 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.16C>G (p.Pro6Ala) single nucleotide variant not provided [RCV001232200] Chr5:16616956 [GRCh38]
Chr5:16617065 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1433C>T (p.Ala478Val) single nucleotide variant not provided [RCV001224381] Chr5:16474802 [GRCh38]
Chr5:16474911 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.403G>A (p.Asp135Asn) single nucleotide variant not provided [RCV001242668] Chr5:16572020 [GRCh38]
Chr5:16572129 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.4_41dup (p.Cys14fs) duplication not provided [RCV001201820] Chr5:16616930..16616931 [GRCh38]
Chr5:16617039..16617040 [GRCh37]
Chr5:5p15.1		 pathogenic
NM_001034850.3(RETREG1):c.463G>A (p.Glu155Lys) single nucleotide variant not provided [RCV001207562] Chr5:16483468 [GRCh38]
Chr5:16483577 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1187T>C (p.Leu396Pro) single nucleotide variant not provided [RCV001235924] Chr5:16475048 [GRCh38]
Chr5:16475157 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.102del (p.Ala35fs) deletion Neuropathy, hereditary sensory and autonomic, type 2B [RCV003316887] Chr5:16616870 [GRCh38]
Chr5:16616979 [GRCh37]
Chr5:5p15.1		 pathogenic
NM_001034850.3(RETREG1):c.1000+210T>A single nucleotide variant not provided [RCV001549678] Chr5:16477452 [GRCh38]
Chr5:16477561 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.459-25582_459-25581dup duplication not provided [RCV001643590] Chr5:16509038..16509039 [GRCh38]
Chr5:16509147..16509148 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.703T>C (p.Cys235Arg) single nucleotide variant Inborn genetic diseases [RCV003241387] Chr5:16478955 [GRCh38]
Chr5:16479064 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1001-17T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001803391]|not provided [RCV001725088] Chr5:16475251 [GRCh38]
Chr5:16475360 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.428-177C>T single nucleotide variant not provided [RCV001555346] Chr5:16565970 [GRCh38]
Chr5:16566079 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1000+264A>G single nucleotide variant not provided [RCV001534930] Chr5:16477398 [GRCh38]
Chr5:16477507 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.459-25005G>C single nucleotide variant not provided [RCV001556505] Chr5:16508477 [GRCh38]
Chr5:16508586 [GRCh37]
Chr5:5p15.1		 likely benign
NC_000005.10:g.16617176A>T single nucleotide variant not provided [RCV001577103] Chr5:16617176 [GRCh38]
Chr5:16617285 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.809-236C>G single nucleotide variant not provided [RCV001562149] Chr5:16478334 [GRCh38]
Chr5:16478443 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.428-29G>C single nucleotide variant not provided [RCV001694398] Chr5:16565822 [GRCh38]
Chr5:16565931 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.586-195T>A single nucleotide variant not provided [RCV001552869] Chr5:16481288 [GRCh38]
Chr5:16481397 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.852C>T (p.Asp284=) single nucleotide variant not provided [RCV000952131] Chr5:16478055 [GRCh38]
Chr5:16478164 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.606T>C (p.Ser202=) single nucleotide variant not provided [RCV000939476] Chr5:16481073 [GRCh38]
Chr5:16481182 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.18T>C (p.Pro6=) single nucleotide variant not provided [RCV000871006] Chr5:16616954 [GRCh38]
Chr5:16617063 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1359T>C (p.Asp453=) single nucleotide variant not provided [RCV000930836] Chr5:16474876 [GRCh38]
Chr5:16474985 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.*1026T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001153725] Chr5:16473715 [GRCh38]
Chr5:16473824 [GRCh37]
Chr5:5p15.1		 likely benign
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) copy number loss 5p partial monosomy syndrome [RCV001195139] Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
NM_001034850.3(RETREG1):c.373C>A (p.Leu125Ile) single nucleotide variant not provided [RCV001227521] Chr5:16572050 [GRCh38]
Chr5:16572159 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.2(RETREG1):c.-62C>A single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001152642] Chr5:16617033 [GRCh38]
Chr5:16617142 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.321-220G>A single nucleotide variant not provided [RCV001661167] Chr5:16572322 [GRCh38]
Chr5:16572431 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.428-271C>T single nucleotide variant not provided [RCV001558269] Chr5:16566064 [GRCh38]
Chr5:16566173 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1000+100A>G single nucleotide variant not provided [RCV001568568] Chr5:16477562 [GRCh38]
Chr5:16477671 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.321-234C>T single nucleotide variant not provided [RCV001547301] Chr5:16572336 [GRCh38]
Chr5:16572445 [GRCh37]
Chr5:5p15.1		 likely benign
GRCh37/hg19 5p15.31-14.3(chr5:8081005-22210970)x1 copy number loss not provided [RCV002472646] Chr5:8081005..22210970 [GRCh37]
Chr5:5p15.31-14.3		 pathogenic
GRCh37/hg19 5p15.1(chr5:15093064-16669298)x3 copy number gain not provided [RCV001005656] Chr5:15093064..16669298 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.874-27C>T single nucleotide variant not provided [RCV001677317] Chr5:16477815 [GRCh38]
Chr5:16477924 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.94G>C (p.Ala32Pro) single nucleotide variant Inborn genetic diseases [RCV003353180]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV001156451]|not provided [RCV001882491] Chr5:16616878 [GRCh38]
Chr5:16616987 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*757G>A single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001156335] Chr5:16473984 [GRCh38]
Chr5:16474093 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.264C>T (p.Ser88=) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001156449]|not provided [RCV002070924] Chr5:16616708 [GRCh38]
Chr5:16616817 [GRCh37]
Chr5:5p15.1		 likely benign|uncertain significance
NM_001034850.3(RETREG1):c.295T>C (p.Phe99Leu) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001156448] Chr5:16616677 [GRCh38]
Chr5:16616786 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.10C>T (p.Pro4Ser) single nucleotide variant Inborn genetic diseases [RCV002462332]|Neuropathy, hereditary sensory and autonomic, type 2B [RCV001158111]|not provided [RCV001230601] Chr5:16616962 [GRCh38]
Chr5:16617071 [GRCh37]
Chr5:5p15.1		 likely benign|uncertain significance
NM_001034850.3(RETREG1):c.*235C>A single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001158005] Chr5:16474506 [GRCh38]
Chr5:16474615 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.*1169G>A single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001153723] Chr5:16473572 [GRCh38]
Chr5:16473681 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*1337A>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001153721] Chr5:16473404 [GRCh38]
Chr5:16473513 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1046A>G (p.Asp349Gly) single nucleotide variant not provided [RCV001229060] Chr5:16475189 [GRCh38]
Chr5:16475298 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*581T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001156336] Chr5:16474160 [GRCh38]
Chr5:16474269 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.459-25582dup duplication not provided [RCV001683827] Chr5:16509038..16509039 [GRCh38]
Chr5:16509147..16509148 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.321-112del deletion not provided [RCV001616950] Chr5:16572214 [GRCh38]
Chr5:16572323 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.1001-210T>C single nucleotide variant not provided [RCV001678879] Chr5:16475444 [GRCh38]
Chr5:16475553 [GRCh37]
Chr5:5p15.1		 benign
NC_000005.10:g.16617337A>C single nucleotide variant not provided [RCV001667322] Chr5:16617337 [GRCh38]
Chr5:16617446 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.428-82C>T single nucleotide variant not provided [RCV001707991] Chr5:16565875 [GRCh38]
Chr5:16565984 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.427+230T>G single nucleotide variant not provided [RCV001583819] Chr5:16571766 [GRCh38]
Chr5:16571875 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.595C>G (p.Leu199Val) single nucleotide variant Inborn genetic diseases [RCV002462282]|not provided [RCV001048569] Chr5:16481084 [GRCh38]
Chr5:16481193 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.738T>G (p.Ile246Met) single nucleotide variant not provided [RCV001212355] Chr5:16478920 [GRCh38]
Chr5:16479029 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.953C>A (p.Thr318Asn) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001152532] Chr5:16477709 [GRCh38]
Chr5:16477818 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.37_63del (p.Gly13_Glu21del) deletion Inborn genetic diseases [RCV002462270]|not provided [RCV001042116] Chr5:16616909..16616935 [GRCh38]
Chr5:16617018..16617044 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.230T>C (p.Leu77Pro) single nucleotide variant not provided [RCV001050459] Chr5:16616742 [GRCh38]
Chr5:16616851 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.346G>A (p.Val116Ile) single nucleotide variant not provided [RCV001051047] Chr5:16572077 [GRCh38]
Chr5:16572186 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1368_1373delinsCC (p.Glu456fs) indel not provided [RCV001248402] Chr5:16474862..16474867 [GRCh38]
Chr5:16474971..16474976 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.394A>G (p.Ile132Val) single nucleotide variant Inborn genetic diseases [RCV002562496]|not provided [RCV001220109] Chr5:16572029 [GRCh38]
Chr5:16572138 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*510A>T single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001156337] Chr5:16474231 [GRCh38]
Chr5:16474340 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.727T>C (p.Tyr243His) single nucleotide variant not provided [RCV001044728] Chr5:16478931 [GRCh38]
Chr5:16479040 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1171C>T (p.Gln391Ter) single nucleotide variant not provided [RCV001206072] Chr5:16475064 [GRCh38]
Chr5:16475173 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1321C>T (p.Pro441Ser) single nucleotide variant Inborn genetic diseases [RCV002462278]|not provided [RCV001045784] Chr5:16474914 [GRCh38]
Chr5:16475023 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.321G>A (p.Trp107Ter) single nucleotide variant not provided [RCV001045931] Chr5:16572102 [GRCh38]
Chr5:16572211 [GRCh37]
Chr5:5p15.1		 pathogenic
NM_001034850.3(RETREG1):c.*1235T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001153722] Chr5:16473506 [GRCh38]
Chr5:16473615 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*219A>G single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001158006] Chr5:16474522 [GRCh38]
Chr5:16474631 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1051C>T (p.Pro351Ser) single nucleotide variant not provided [RCV001068723] Chr5:16475184 [GRCh38]
Chr5:16475293 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.787C>T (p.Gln263Ter) single nucleotide variant not provided [RCV001036675] Chr5:16478871 [GRCh38]
Chr5:16478980 [GRCh37]
Chr5:5p15.1		 pathogenic
NM_001034850.3(RETREG1):c.670+8T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001153825] Chr5:16481001 [GRCh38]
Chr5:16481110 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.709_711del (p.Asp237del) deletion not provided [RCV001037371] Chr5:16478947..16478949 [GRCh38]
Chr5:16479056..16479058 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.703T>A (p.Cys235Ser) single nucleotide variant not provided [RCV001202241] Chr5:16478955 [GRCh38]
Chr5:16479064 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.160G>A (p.Gly54Arg) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001156450] Chr5:16616812 [GRCh38]
Chr5:16616921 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.110G>C (p.Arg37Pro) single nucleotide variant Inborn genetic diseases [RCV002551493]|not provided [RCV001041348] Chr5:16616862 [GRCh38]
Chr5:16616971 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.*1035T>C single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001153724]|not provided [RCV004694966] Chr5:16473706 [GRCh38]
Chr5:16473815 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.428-166A>C single nucleotide variant not provided [RCV001580840] Chr5:16565959 [GRCh38]
Chr5:16566068 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1351G>A (p.Glu451Lys) single nucleotide variant not provided [RCV001348349] Chr5:16474884 [GRCh38]
Chr5:16474993 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1 copy number loss See cases [RCV002285039] Chr5:113576..30712376 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_001034850.3(RETREG1):c.1448A>G (p.Asn483Ser) single nucleotide variant not provided [RCV001304035] Chr5:16474787 [GRCh38]
Chr5:16474896 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1073G>T (p.Gly358Val) single nucleotide variant not provided [RCV001295414] Chr5:16475162 [GRCh38]
Chr5:16475271 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.38_64dup (p.Glu21_Gln22insArgCysProAlaProAlaAlaGluGlu) duplication not provided [RCV001320196] Chr5:16616907..16616908 [GRCh38]
Chr5:16617016..16617017 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1226T>G (p.Met409Arg) single nucleotide variant not provided [RCV001341966] Chr5:16475009 [GRCh38]
Chr5:16475118 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1346C>G (p.Thr449Ser) single nucleotide variant not provided [RCV001340222] Chr5:16474889 [GRCh38]
Chr5:16474998 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.881T>C (p.Leu294Pro) single nucleotide variant not provided [RCV001299986] Chr5:16477781 [GRCh38]
Chr5:16477890 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1249A>T (p.Ile417Phe) single nucleotide variant Inborn genetic diseases [RCV004036141]|not provided [RCV001299617] Chr5:16474986 [GRCh38]
Chr5:16475095 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 copy number loss See cases [RCV001310287] Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_001034850.3(RETREG1):c.1290G>T (p.Glu430Asp) single nucleotide variant not provided [RCV001373629] Chr5:16474945 [GRCh38]
Chr5:16475054 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.48_49del (p.Pro17fs) deletion not provided [RCV001383284] Chr5:16616923..16616924 [GRCh38]
Chr5:16617032..16617033 [GRCh37]
Chr5:5p15.1		 pathogenic
NC_000005.9:g.(?_16474830)_(16481222_?)dup duplication not provided [RCV001304137] Chr5:16474830..16481222 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.67G>A (p.Ala23Thr) single nucleotide variant not provided [RCV001320011] Chr5:16616905 [GRCh38]
Chr5:16617014 [GRCh37]
Chr5:5p15.1		 uncertain significance
NC_000005.9:g.(?_16474840)_(16475353_?)del deletion not provided [RCV001345210] Chr5:16474840..16475353 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.559C>G (p.Leu187Val) single nucleotide variant not provided [RCV001323332] Chr5:16483372 [GRCh38]
Chr5:16483481 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.973T>G (p.Tyr325Asp) single nucleotide variant not provided [RCV001302395] Chr5:16477689 [GRCh38]
Chr5:16477798 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.745G>A (p.Val249Ile) single nucleotide variant not provided [RCV001322500] Chr5:16478913 [GRCh38]
Chr5:16479022 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.161G>C (p.Gly54Ala) single nucleotide variant not provided [RCV001347990] Chr5:16616811 [GRCh38]
Chr5:16616920 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1166A>G (p.Glu389Gly) single nucleotide variant not provided [RCV001298821] Chr5:16475069 [GRCh38]
Chr5:16475178 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.992C>T (p.Thr331Ile) single nucleotide variant not provided [RCV001301226] Chr5:16477670 [GRCh38]
Chr5:16477779 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.106G>A (p.Glu36Lys) single nucleotide variant not provided [RCV001358876] Chr5:16616866 [GRCh38]
Chr5:16616975 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.55G>T (p.Ala19Ser) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV001335569] Chr5:16616917 [GRCh38]
Chr5:16617026 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.923T>A (p.Val308Asp) single nucleotide variant not provided [RCV001351062] Chr5:16477739 [GRCh38]
Chr5:16477848 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.915C>T (p.Asp305=) single nucleotide variant not provided [RCV001490224] Chr5:16477747 [GRCh38]
Chr5:16477856 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.249C>T (p.Ala83=) single nucleotide variant not provided [RCV001450700] Chr5:16616723 [GRCh38]
Chr5:16616832 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.809-8C>T single nucleotide variant not provided [RCV001499827] Chr5:16478106 [GRCh38]
Chr5:16478215 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.747T>G (p.Val249=) single nucleotide variant not provided [RCV001405473] Chr5:16478911 [GRCh38]
Chr5:16479020 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1173A>G (p.Gln391=) single nucleotide variant not provided [RCV001483941] Chr5:16475062 [GRCh38]
Chr5:16475171 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.159G>A (p.Ala53=) single nucleotide variant not provided [RCV001434337] Chr5:16616813 [GRCh38]
Chr5:16616922 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.147G>A (p.Ala49=) single nucleotide variant not provided [RCV001453769] Chr5:16616825 [GRCh38]
Chr5:16616934 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.840C>T (p.Asp280=) single nucleotide variant not provided [RCV001445883] Chr5:16478067 [GRCh38]
Chr5:16478176 [GRCh37]
Chr5:5p15.1		 likely benign
NC_000005.9:g.(?_16483445)_(16483591_?)del deletion not provided [RCV001384703] Chr5:16483445..16483591 [GRCh37]
Chr5:5p15.1		 pathogenic
NM_001034850.3(RETREG1):c.291C>T (p.Leu97=) single nucleotide variant not provided [RCV001407383] Chr5:16616681 [GRCh38]
Chr5:16616790 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.728del (p.Tyr243fs) deletion not provided [RCV001390311] Chr5:16478930 [GRCh38]
Chr5:16479039 [GRCh37]
Chr5:5p15.1		 pathogenic
NM_001034850.3(RETREG1):c.81G>A (p.Pro27=) single nucleotide variant not provided [RCV001419994] Chr5:16616891 [GRCh38]
Chr5:16617000 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.291_314del (p.Gly98_Leu105del) deletion Hereditary spastic paraplegia [RCV001696754] Chr5:16616658..16616681 [GRCh38]
Chr5:16616767..16616790 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.586-150T>G single nucleotide variant not provided [RCV001592532] Chr5:16481243 [GRCh38]
Chr5:16481352 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.428-7G>A single nucleotide variant not provided [RCV001451358] Chr5:16565800 [GRCh38]
Chr5:16565909 [GRCh37]
Chr5:5p15.1		 likely benign
NC_000005.10:g.16617377A>G single nucleotide variant not provided [RCV001680866] Chr5:16617377 [GRCh38]
Chr5:16617486 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.459-24825G>A single nucleotide variant not provided [RCV001537268] Chr5:16508297 [GRCh38]
Chr5:16508406 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.345A>G (p.Arg115=) single nucleotide variant not provided [RCV001416833] Chr5:16572078 [GRCh38]
Chr5:16572187 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.711T>C (p.Asp237=) single nucleotide variant not provided [RCV001431549] Chr5:16478947 [GRCh38]
Chr5:16479056 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1068C>T (p.Gly356=) single nucleotide variant not provided [RCV001519486] Chr5:16475167 [GRCh38]
Chr5:16475276 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.1001-5C>A single nucleotide variant not provided [RCV001467410] Chr5:16475239 [GRCh38]
Chr5:16475348 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1008C>T (p.Asp336=) single nucleotide variant not provided [RCV001482302] Chr5:16475227 [GRCh38]
Chr5:16475336 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.15G>C (p.Ala5=) single nucleotide variant not provided [RCV001480461] Chr5:16616957 [GRCh38]
Chr5:16617066 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.885G>A (p.Thr295=) single nucleotide variant not provided [RCV001401875] Chr5:16477777 [GRCh38]
Chr5:16477886 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.211C>T (p.Leu71=) single nucleotide variant not provided [RCV001435619] Chr5:16616761 [GRCh38]
Chr5:16616870 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.276G>T (p.Pro92=) single nucleotide variant not provided [RCV001424910] Chr5:16616696 [GRCh38]
Chr5:16616805 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.947A>G (p.Asn316Ser) single nucleotide variant not provided [RCV001757271] Chr5:16477715 [GRCh38]
Chr5:16477824 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1340C>T (p.Thr447Ile) single nucleotide variant not provided [RCV001816392] Chr5:16474895 [GRCh38]
Chr5:16475004 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1091A>T (p.Glu364Val) single nucleotide variant not provided [RCV001874800] Chr5:16475144 [GRCh38]
Chr5:16475253 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.775G>C (p.Glu259Gln) single nucleotide variant not provided [RCV001871235] Chr5:16478883 [GRCh38]
Chr5:16478992 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.821A>G (p.Glu274Gly) single nucleotide variant not provided [RCV001915393] Chr5:16478086 [GRCh38]
Chr5:16478195 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1072G>A (p.Gly358Arg) single nucleotide variant not provided [RCV001896010] Chr5:16475163 [GRCh38]
Chr5:16475272 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.871A>G (p.Lys291Glu) single nucleotide variant not provided [RCV001915278] Chr5:16478036 [GRCh38]
Chr5:16478145 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.263G>A (p.Ser88Asn) single nucleotide variant not provided [RCV001896136] Chr5:16616709 [GRCh38]
Chr5:16616818 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.120GGA[2] (p.Glu43del) microsatellite not provided [RCV002025684] Chr5:16616844..16616846 [GRCh38]
Chr5:16616953..16616955 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1030T>C (p.Ser344Pro) single nucleotide variant Inborn genetic diseases [RCV002463081]|not provided [RCV001950343] Chr5:16475205 [GRCh38]
Chr5:16475314 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1156C>T (p.Pro386Ser) single nucleotide variant not provided [RCV001892894] Chr5:16475079 [GRCh38]
Chr5:16475188 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.1(chr5:16341722-16701378) copy number gain not specified [RCV002053481] Chr5:16341722..16701378 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.234G>A (p.Trp78Ter) single nucleotide variant not provided [RCV001947033] Chr5:16616738 [GRCh38]
Chr5:16616847 [GRCh37]
Chr5:5p15.1		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1 copy number loss not provided [RCV001827855] Chr5:113577..16952167 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
NM_001034850.3(RETREG1):c.1000+4T>C single nucleotide variant not provided [RCV002005431] Chr5:16477658 [GRCh38]
Chr5:16477767 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.991A>C (p.Thr331Pro) single nucleotide variant not provided [RCV001967063] Chr5:16477671 [GRCh38]
Chr5:16477780 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.1(chr5:16384928-16969392) copy number loss not specified [RCV002053482] Chr5:16384928..16969392 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.616T>A (p.Phe206Ile) single nucleotide variant not provided [RCV002041347] Chr5:16481063 [GRCh38]
Chr5:16481172 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.441G>T (p.Trp147Cys) single nucleotide variant not provided [RCV001901755] Chr5:16565780 [GRCh38]
Chr5:16565889 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.13G>C (p.Ala5Pro) single nucleotide variant not provided [RCV001942408] Chr5:16616959 [GRCh38]
Chr5:16617068 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.308A>G (p.Asn103Ser) single nucleotide variant not provided [RCV001888285] Chr5:16616664 [GRCh38]
Chr5:16616773 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.502A>G (p.Ser168Gly) single nucleotide variant not provided [RCV001980894] Chr5:16483429 [GRCh38]
Chr5:16483538 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.638A>G (p.Tyr213Cys) single nucleotide variant Inborn genetic diseases [RCV002463099]|not provided [RCV002020109] Chr5:16481041 [GRCh38]
Chr5:16481150 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.193G>A (p.Ala65Thr) single nucleotide variant not provided [RCV002039191] Chr5:16616779 [GRCh38]
Chr5:16616888 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1418C>T (p.Thr473Ile) single nucleotide variant not provided [RCV001943476] Chr5:16474817 [GRCh38]
Chr5:16474926 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.338C>A (p.Pro113Gln) single nucleotide variant not provided [RCV001888315] Chr5:16572085 [GRCh38]
Chr5:16572194 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.44_71del (p.Pro15fs) deletion Inborn genetic diseases [RCV002463083]|not provided [RCV001958621] Chr5:16616901..16616928 [GRCh38]
Chr5:16617010..16617037 [GRCh37]
Chr5:5p15.1		 pathogenic
NM_001034850.3(RETREG1):c.262A>C (p.Ser88Arg) single nucleotide variant not provided [RCV002029473] Chr5:16616710 [GRCh38]
Chr5:16616819 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.20C>T (p.Pro7Leu) single nucleotide variant not provided [RCV001903655] Chr5:16616952 [GRCh38]
Chr5:16617061 [GRCh37]
Chr5:5p15.1		 uncertain significance
NC_000005.9:g.(?_16474840)_(16483591_?)del deletion not provided [RCV001977384] Chr5:16474840..16483591 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.684_686dup (p.Phe228dup) duplication Inborn genetic diseases [RCV002463098]|not provided [RCV002010599] Chr5:16478971..16478972 [GRCh38]
Chr5:16479080..16479081 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.340T>A (p.Trp114Arg) single nucleotide variant not provided [RCV001877997] Chr5:16572083 [GRCh38]
Chr5:16572192 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.123G>C (p.Glu41Asp) single nucleotide variant Inborn genetic diseases [RCV002592662]|not provided [RCV001989189] Chr5:16616849 [GRCh38]
Chr5:16616958 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1211A>C (p.Gln404Pro) single nucleotide variant not provided [RCV001994253] Chr5:16475024 [GRCh38]
Chr5:16475133 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1255G>C (p.Ala419Pro) single nucleotide variant not provided [RCV001992078] Chr5:16474980 [GRCh38]
Chr5:16475089 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.237G>A (p.Leu79=) single nucleotide variant not provided [RCV001937771] Chr5:16616735 [GRCh38]
Chr5:16616844 [GRCh37]
Chr5:5p15.1		 likely benign|uncertain significance
NM_001034850.3(RETREG1):c.1010G>A (p.Arg337Gln) single nucleotide variant not provided [RCV001920595] Chr5:16475225 [GRCh38]
Chr5:16475334 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.668T>C (p.Leu223Pro) single nucleotide variant not provided [RCV002010518] Chr5:16481011 [GRCh38]
Chr5:16481120 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.321G>T (p.Trp107Cys) single nucleotide variant not provided [RCV001925781] Chr5:16572102 [GRCh38]
Chr5:16572211 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1434A>G (p.Ala478=) single nucleotide variant not provided [RCV001866622] Chr5:16474801 [GRCh38]
Chr5:16474910 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.16C>A (p.Pro6Thr) single nucleotide variant not provided [RCV001898670] Chr5:16616956 [GRCh38]
Chr5:16617065 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.320+2T>G single nucleotide variant not provided [RCV002029236] Chr5:16616650 [GRCh38]
Chr5:16616759 [GRCh37]
Chr5:5p15.1		 likely pathogenic
NM_001034850.3(RETREG1):c.1000+5G>C single nucleotide variant not provided [RCV001884607] Chr5:16477657 [GRCh38]
Chr5:16477766 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1303G>A (p.Ala435Thr) single nucleotide variant not provided [RCV001981481] Chr5:16474932 [GRCh38]
Chr5:16475041 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1311_1312dup (p.Gln438fs) microsatellite not provided [RCV002019701] Chr5:16474922..16474923 [GRCh38]
Chr5:16475031..16475032 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.217G>C (p.Gly73Arg) single nucleotide variant not provided [RCV001925438] Chr5:16616755 [GRCh38]
Chr5:16616864 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.859G>A (p.Ala287Thr) single nucleotide variant not provided [RCV002048817] Chr5:16478048 [GRCh38]
Chr5:16478157 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1228A>T (p.Ser410Cys) single nucleotide variant Inborn genetic diseases [RCV002463068]|not provided [RCV001918960] Chr5:16475007 [GRCh38]
Chr5:16475116 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.621_622insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCACCCGCCTCGGCCTCCCTACGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTGTGTGCACATTTTTT (p.Thr208delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer) microsatellite not provided [RCV001878653] Chr5:16481057..16481058 [GRCh38]
Chr5:16481166..16481167 [GRCh37]
Chr5:5p15.1		 pathogenic
NM_001034850.3(RETREG1):c.131C>T (p.Ala44Val) single nucleotide variant not provided [RCV001921732] Chr5:16616841 [GRCh38]
Chr5:16616950 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.977C>G (p.Thr326Ser) single nucleotide variant not provided [RCV001977936] Chr5:16477685 [GRCh38]
Chr5:16477794 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.413T>A (p.Leu138Ter) single nucleotide variant not provided [RCV001958708] Chr5:16572010 [GRCh38]
Chr5:16572119 [GRCh37]
Chr5:5p15.1		 pathogenic
NM_001034850.3(RETREG1):c.945T>C (p.Asp315=) single nucleotide variant not provided [RCV002187726] Chr5:16477717 [GRCh38]
Chr5:16477826 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.9C>T (p.Ser3=) single nucleotide variant not provided [RCV002084658] Chr5:16616963 [GRCh38]
Chr5:16617072 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1170G>T (p.Thr390=) single nucleotide variant not provided [RCV002205884] Chr5:16475065 [GRCh38]
Chr5:16475174 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1218T>C (p.Phe406=) single nucleotide variant not provided [RCV002092336] Chr5:16475017 [GRCh38]
Chr5:16475126 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.624G>A (p.Thr208=) single nucleotide variant not provided [RCV002129051] Chr5:16481055 [GRCh38]
Chr5:16481164 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1000+16T>G single nucleotide variant not provided [RCV002210261] Chr5:16477646 [GRCh38]
Chr5:16477755 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.873+11T>C single nucleotide variant not provided [RCV002214700] Chr5:16478023 [GRCh38]
Chr5:16478132 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.501C>T (p.Leu167=) single nucleotide variant not provided [RCV002133796] Chr5:16483430 [GRCh38]
Chr5:16483539 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.276G>A (p.Pro92=) single nucleotide variant not provided [RCV002113230] Chr5:16616696 [GRCh38]
Chr5:16616805 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1404T>C (p.Ser468=) single nucleotide variant not provided [RCV002195565] Chr5:16474831 [GRCh38]
Chr5:16474940 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.249C>G (p.Ala83=) single nucleotide variant not provided [RCV002215652] Chr5:16616723 [GRCh38]
Chr5:16616832 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.428-6T>C single nucleotide variant not provided [RCV002139522] Chr5:16565799 [GRCh38]
Chr5:16565908 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.24G>A (p.Glu8=) single nucleotide variant not provided [RCV002101058] Chr5:16616948 [GRCh38]
Chr5:16617057 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.882C>T (p.Leu294=) single nucleotide variant not provided [RCV002218577] Chr5:16477780 [GRCh38]
Chr5:16477889 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.30C>A (p.Ala10=) single nucleotide variant not provided [RCV002159939] Chr5:16616942 [GRCh38]
Chr5:16617051 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.808+11T>G single nucleotide variant not provided [RCV002216853] Chr5:16478839 [GRCh38]
Chr5:16478948 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.458+9C>T single nucleotide variant not provided [RCV002216995] Chr5:16565754 [GRCh38]
Chr5:16565863 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1143C>T (p.Asp381=) single nucleotide variant not provided [RCV002218130] Chr5:16475092 [GRCh38]
Chr5:16475201 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.670+12A>G single nucleotide variant not provided [RCV002157715] Chr5:16480997 [GRCh38]
Chr5:16481106 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.180C>T (p.Ala60=) single nucleotide variant not provided [RCV002136387] Chr5:16616792 [GRCh38]
Chr5:16616901 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1077A>G (p.Thr359=) single nucleotide variant not provided [RCV002162008] Chr5:16475158 [GRCh38]
Chr5:16475267 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.15G>T (p.Ala5=) single nucleotide variant not provided [RCV002140108] Chr5:16616957 [GRCh38]
Chr5:16617066 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.458+19G>A single nucleotide variant not provided [RCV002155858] Chr5:16565744 [GRCh38]
Chr5:16565853 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.458+18C>T single nucleotide variant not provided [RCV002179277] Chr5:16565745 [GRCh38]
Chr5:16565854 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.968A>T (p.Glu323Val) single nucleotide variant not provided [RCV003117953] Chr5:16477694 [GRCh38]
Chr5:16477803 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.775G>T (p.Glu259Ter) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV003120332] Chr5:16478883 [GRCh38]
Chr5:16478992 [GRCh37]
Chr5:5p15.1		 likely pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520) copy number gain 5p partial monosomy syndrome [RCV002280773] Chr5:113576..29310520 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_001034850.3(RETREG1):c.469A>G (p.Ile157Val) single nucleotide variant Inborn genetic diseases [RCV003258360] Chr5:16483462 [GRCh38]
Chr5:16483571 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.908T>G (p.Val303Gly) single nucleotide variant Inborn genetic diseases [RCV002460820] Chr5:16477754 [GRCh38]
Chr5:16477863 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.713T>C (p.Ile238Thr) single nucleotide variant Inborn genetic diseases [RCV002460827] Chr5:16478945 [GRCh38]
Chr5:16479054 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.368T>C (p.Met123Thr) single nucleotide variant Inborn genetic diseases [RCV002460838] Chr5:16572055 [GRCh38]
Chr5:16572164 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1 copy number loss not provided [RCV002472712] Chr5:1..32091038 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_001034850.3(RETREG1):c.1214C>A (p.Thr405Asn) single nucleotide variant Inborn genetic diseases [RCV002460419]|not provided [RCV003103058] Chr5:16475021 [GRCh38]
Chr5:16475130 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1 copy number loss not provided [RCV002473919] Chr5:113577..17654787 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
NM_001034850.3(RETREG1):c.1172A>G (p.Gln391Arg) single nucleotide variant Inborn genetic diseases [RCV002460547] Chr5:16475063 [GRCh38]
Chr5:16475172 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1107G>T (p.Leu369Phe) single nucleotide variant Inborn genetic diseases [RCV002460690] Chr5:16475128 [GRCh38]
Chr5:16475237 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.289C>G (p.Leu97Val) single nucleotide variant Inborn genetic diseases [RCV002460366]|not provided [RCV003103054] Chr5:16616683 [GRCh38]
Chr5:16616792 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1392T>G (p.Asp464Glu) single nucleotide variant Inborn genetic diseases [RCV002460377] Chr5:16474843 [GRCh38]
Chr5:16474952 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.331T>G (p.Leu111Val) single nucleotide variant Inborn genetic diseases [RCV002460531] Chr5:16572092 [GRCh38]
Chr5:16572201 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.489A>C (p.Glu163Asp) single nucleotide variant Inborn genetic diseases [RCV002460532] Chr5:16483442 [GRCh38]
Chr5:16483551 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.355C>G (p.Leu119Val) single nucleotide variant Inborn genetic diseases [RCV002460579]|not provided [RCV003103070] Chr5:16572068 [GRCh38]
Chr5:16572177 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1335G>T (p.Glu445Asp) single nucleotide variant Inborn genetic diseases [RCV002460648] Chr5:16474900 [GRCh38]
Chr5:16475009 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.649G>C (p.Val217Leu) single nucleotide variant not provided [RCV002862902] Chr5:16481030 [GRCh38]
Chr5:16481139 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.505C>T (p.His169Tyr) single nucleotide variant not provided [RCV002731070] Chr5:16483426 [GRCh38]
Chr5:16483535 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.953C>G (p.Thr318Ser) single nucleotide variant Inborn genetic diseases [RCV002461551] Chr5:16477709 [GRCh38]
Chr5:16477818 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.11C>T (p.Pro4Leu) single nucleotide variant Inborn genetic diseases [RCV002461601] Chr5:16616961 [GRCh38]
Chr5:16617070 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.922G>A (p.Val308Ile) single nucleotide variant Inborn genetic diseases [RCV004661523]|not provided [RCV002968002] Chr5:16477740 [GRCh38]
Chr5:16477849 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.44C>G (p.Pro15Arg) single nucleotide variant not provided [RCV003074360] Chr5:16616928 [GRCh38]
Chr5:16617037 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.21G>A (p.Pro7=) single nucleotide variant RETREG1-related disorder [RCV003973604]|not provided [RCV002993653] Chr5:16616951 [GRCh38]
Chr5:16617060 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.586-8A>G single nucleotide variant not provided [RCV003076879] Chr5:16481101 [GRCh38]
Chr5:16481210 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.78GCC[3] (p.Pro30_Gln31insPro) microsatellite not provided [RCV002903338] Chr5:16616888..16616889 [GRCh38]
Chr5:16616997..16616998 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.805T>A (p.Ser269Thr) single nucleotide variant not provided [RCV002730658] Chr5:16478853 [GRCh38]
Chr5:16478962 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.428-19T>C single nucleotide variant not provided [RCV003074891] Chr5:16565812 [GRCh38]
Chr5:16565921 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1380G>T (p.Gln460His) single nucleotide variant Inborn genetic diseases [RCV002460874] Chr5:16474855 [GRCh38]
Chr5:16474964 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1392T>C (p.Asp464=) single nucleotide variant not provided [RCV002615508] Chr5:16474843 [GRCh38]
Chr5:16474952 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1397T>C (p.Ile466Thr) single nucleotide variant Inborn genetic diseases [RCV002460872] Chr5:16474838 [GRCh38]
Chr5:16474947 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.321-2_321delinsTGT indel Inborn genetic diseases [RCV002461577] Chr5:16572102..16572104 [GRCh38]
Chr5:16572211..16572213 [GRCh37]
Chr5:5p15.1		 likely pathogenic
NM_001034850.3(RETREG1):c.874-3C>T single nucleotide variant not provided [RCV002994884] Chr5:16477791 [GRCh38]
Chr5:16477900 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.83C>A (p.Pro28Gln) single nucleotide variant Inborn genetic diseases [RCV002793478] Chr5:16616889 [GRCh38]
Chr5:16616998 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1 copy number loss not provided [RCV002475666] Chr5:113577..31448527 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_001034850.3(RETREG1):c.865_870dup (p.Pro290_Lys291insCysPro) duplication Inborn genetic diseases [RCV002461402] Chr5:16478036..16478037 [GRCh38]
Chr5:16478145..16478146 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1 copy number loss not provided [RCV002475573] Chr5:113577..26164852 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_001034850.3(RETREG1):c.12G>T (p.Pro4=) single nucleotide variant not provided [RCV003002910] Chr5:16616960 [GRCh38]
Chr5:16617069 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.808+16A>G single nucleotide variant not provided [RCV002889635] Chr5:16478834 [GRCh38]
Chr5:16478943 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1237G>A (p.Ala413Thr) single nucleotide variant Inborn genetic diseases [RCV002910752] Chr5:16474998 [GRCh38]
Chr5:16475107 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.220G>A (p.Glu74Lys) single nucleotide variant not provided [RCV003055549] Chr5:16616752 [GRCh38]
Chr5:16616861 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.161G>A (p.Gly54Glu) single nucleotide variant Inborn genetic diseases [RCV002738106] Chr5:16616811 [GRCh38]
Chr5:16616920 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.321G>C (p.Trp107Cys) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV003992691]|not provided [RCV002923884] Chr5:16572102 [GRCh38]
Chr5:16572211 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.767G>A (p.Gly256Glu) single nucleotide variant not provided [RCV002952872] Chr5:16478891 [GRCh38]
Chr5:16479000 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1170G>A (p.Thr390=) single nucleotide variant not provided [RCV002975992] Chr5:16475065 [GRCh38]
Chr5:16475174 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.741G>T (p.Lys247Asn) single nucleotide variant not provided [RCV002622770] Chr5:16478917 [GRCh38]
Chr5:16479026 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.558T>C (p.Ser186=) single nucleotide variant not provided [RCV002848415] Chr5:16483373 [GRCh38]
Chr5:16483482 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.538A>G (p.Ile180Val) single nucleotide variant not provided [RCV002760262] Chr5:16483393 [GRCh38]
Chr5:16483502 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.654A>T (p.Ile218=) single nucleotide variant not provided [RCV002823951] Chr5:16481025 [GRCh38]
Chr5:16481134 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.458+3A>G single nucleotide variant Inborn genetic diseases [RCV002888136] Chr5:16565760 [GRCh38]
Chr5:16565869 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.14C>G (p.Ala5Gly) single nucleotide variant Inborn genetic diseases [RCV002764190] Chr5:16616958 [GRCh38]
Chr5:16617067 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.670+20T>C single nucleotide variant not provided [RCV002932271] Chr5:16480989 [GRCh38]
Chr5:16481098 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.806C>G (p.Ser269Cys) single nucleotide variant not provided [RCV002663280] Chr5:16478852 [GRCh38]
Chr5:16478961 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.907G>A (p.Val303Met) single nucleotide variant not provided [RCV002852516] Chr5:16477755 [GRCh38]
Chr5:16477864 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.586-4C>A single nucleotide variant not provided [RCV002765405] Chr5:16481097 [GRCh38]
Chr5:16481206 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.363C>G (p.Ser121=) single nucleotide variant not provided [RCV003006113] Chr5:16572060 [GRCh38]
Chr5:16572169 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.348A>G (p.Val116=) single nucleotide variant not provided [RCV003083159] Chr5:16572075 [GRCh38]
Chr5:16572184 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1156C>A (p.Pro386Thr) single nucleotide variant not provided [RCV002666903] Chr5:16475079 [GRCh38]
Chr5:16475188 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.13G>A (p.Ala5Thr) single nucleotide variant Inborn genetic diseases [RCV002764189] Chr5:16616959 [GRCh38]
Chr5:16617068 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.403G>C (p.Asp135His) single nucleotide variant not provided [RCV002710853] Chr5:16572020 [GRCh38]
Chr5:16572129 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.672A>C (p.Leu224Phe) single nucleotide variant Inborn genetic diseases [RCV003167568]|not provided [RCV002666831] Chr5:16478986 [GRCh38]
Chr5:16479095 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.570G>A (p.Gln190=) single nucleotide variant not provided [RCV002574485] Chr5:16483361 [GRCh38]
Chr5:16483470 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.120G>A (p.Gln40=) single nucleotide variant not provided [RCV002579346] Chr5:16616852 [GRCh38]
Chr5:16616961 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1000+20G>C single nucleotide variant not provided [RCV002632284] Chr5:16477642 [GRCh38]
Chr5:16477751 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.279G>A (p.Leu93=) single nucleotide variant not provided [RCV002671737] Chr5:16616693 [GRCh38]
Chr5:16616802 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.158C>T (p.Ala53Val) single nucleotide variant not provided [RCV002631842] Chr5:16616814 [GRCh38]
Chr5:16616923 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1000+15C>T single nucleotide variant not provided [RCV003090740] Chr5:16477647 [GRCh38]
Chr5:16477756 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.340T>C (p.Trp114Arg) single nucleotide variant not provided [RCV003011088] Chr5:16572083 [GRCh38]
Chr5:16572192 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.377G>A (p.Gly126Glu) single nucleotide variant not provided [RCV003044012] Chr5:16572046 [GRCh38]
Chr5:16572155 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.808+4G>C single nucleotide variant not provided [RCV002810544] Chr5:16478846 [GRCh38]
Chr5:16478955 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.77C>T (p.Ser26Leu) single nucleotide variant Inborn genetic diseases [RCV002748021] Chr5:16616895 [GRCh38]
Chr5:16617004 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.389T>C (p.Met130Thr) single nucleotide variant Inborn genetic diseases [RCV002723987] Chr5:16572034 [GRCh38]
Chr5:16572143 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.363C>T (p.Ser121=) single nucleotide variant not provided [RCV002583909] Chr5:16572060 [GRCh38]
Chr5:16572169 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.905C>T (p.Ser302Phe) single nucleotide variant not provided [RCV002634605] Chr5:16477757 [GRCh38]
Chr5:16477866 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.574A>C (p.Ser192Arg) single nucleotide variant Inborn genetic diseases [RCV002723591] Chr5:16483357 [GRCh38]
Chr5:16483466 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.250G>A (p.Asp84Asn) single nucleotide variant Inborn genetic diseases [RCV002725343]|not provided [RCV002725342] Chr5:16616722 [GRCh38]
Chr5:16616831 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV002605269] Chr5:16616971 [GRCh38]
Chr5:16617080 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.188G>T (p.Arg63Leu) single nucleotide variant not provided [RCV003050740] Chr5:16616784 [GRCh38]
Chr5:16616893 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.440G>A (p.Trp147Ter) single nucleotide variant not provided [RCV002586448] Chr5:16565781 [GRCh38]
Chr5:16565890 [GRCh37]
Chr5:5p15.1		 pathogenic
NM_001034850.3(RETREG1):c.366C>T (p.Val122=) single nucleotide variant not provided [RCV002584946] Chr5:16572057 [GRCh38]
Chr5:16572166 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.217G>T (p.Gly73Trp) single nucleotide variant not provided [RCV002589050] Chr5:16616755 [GRCh38]
Chr5:16616864 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.15G>A (p.Ala5=) single nucleotide variant not provided [RCV003068403] Chr5:16616957 [GRCh38]
Chr5:16617066 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.631G>A (p.Gly211Arg) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV003883202]|not provided [RCV002653984] Chr5:16481048 [GRCh38]
Chr5:16481157 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1315G>A (p.Ala439Thr) single nucleotide variant Inborn genetic diseases [RCV003218499] Chr5:16474920 [GRCh38]
Chr5:16475029 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.2-15.1(chr5:10165922-18156739)x3 copy number gain Intellectual developmental disorder, autosomal dominant 63, with macrocephaly [RCV003159551] Chr5:10165922..18156739 [GRCh37]
Chr5:5p15.2-15.1		 pathogenic|likely pathogenic
NM_001034850.3(RETREG1):c.884C>T (p.Thr295Met) single nucleotide variant Inborn genetic diseases [RCV003307018] Chr5:16477778 [GRCh38]
Chr5:16477887 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.486T>G (p.Asp162Glu) single nucleotide variant not provided [RCV003328523] Chr5:16483445 [GRCh38]
Chr5:16483554 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.34G>T (p.Glu12Ter) single nucleotide variant Neuropathy, hereditary sensory and autonomic, type 2B [RCV003331882]|not provided [RCV003669388] Chr5:16616938 [GRCh38]
Chr5:16617047 [GRCh37]
Chr5:5p15.1		 pathogenic
NM_001034850.3(RETREG1):c.71C>G (p.Pro24Arg) single nucleotide variant Inborn genetic diseases [RCV003345370] Chr5:16616901 [GRCh38]
Chr5:16617010 [GRCh37]
Chr5:5p15.1		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 copy number loss not provided [RCV003485447] Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1 copy number loss not provided [RCV003485449] Chr5:113577..30529044 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1 copy number loss not provided [RCV003485450] Chr5:113577..21529653 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
NM_001034850.3(RETREG1):c.102C>G (p.Pro34=) single nucleotide variant not provided [RCV003691047] Chr5:16616870 [GRCh38]
Chr5:16616979 [GRCh37]
Chr5:5p15.1		 likely benign
GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1 copy number loss not provided [RCV003485453] Chr5:862398..18927500 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3 copy number gain not provided [RCV003484599] Chr5:113577..27800913 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_001034850.3(RETREG1):c.427+17T>G single nucleotide variant not provided [RCV003661501] Chr5:16571979 [GRCh38]
Chr5:16572088 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.873+10G>C single nucleotide variant not provided [RCV003687445] Chr5:16478024 [GRCh38]
Chr5:16478133 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.924C>G (p.Val308=) single nucleotide variant not provided [RCV003882187] Chr5:16477738 [GRCh38]
Chr5:16477847 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.300C>T (p.Val100=) single nucleotide variant not provided [RCV003830479] Chr5:16616672 [GRCh38]
Chr5:16616781 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.808+10G>A single nucleotide variant not provided [RCV003738919] Chr5:16478840 [GRCh38]
Chr5:16478949 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.975C>T (p.Tyr325=) single nucleotide variant not provided [RCV003687729] Chr5:16477687 [GRCh38]
Chr5:16477796 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.874-15T>C single nucleotide variant not provided [RCV003688190] Chr5:16477803 [GRCh38]
Chr5:16477912 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.320+16A>T single nucleotide variant not provided [RCV003667239] Chr5:16616636 [GRCh38]
Chr5:16616745 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.321-1G>A single nucleotide variant not provided [RCV003674415] Chr5:16572103 [GRCh38]
Chr5:16572212 [GRCh37]
Chr5:5p15.1		 likely pathogenic
NM_001034850.3(RETREG1):c.216C>T (p.Leu72=) single nucleotide variant not provided [RCV003724100] Chr5:16616756 [GRCh38]
Chr5:16616865 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.183G>A (p.Ala61=) single nucleotide variant not provided [RCV003561834] Chr5:16616789 [GRCh38]
Chr5:16616898 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1320C>T (p.Ala440=) single nucleotide variant not provided [RCV003559020] Chr5:16474915 [GRCh38]
Chr5:16475024 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1138T>C (p.Leu380=) single nucleotide variant not provided [RCV003815764] Chr5:16475097 [GRCh38]
Chr5:16475206 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.33G>A (p.Glu11=) single nucleotide variant not provided [RCV003699885] Chr5:16616939 [GRCh38]
Chr5:16617048 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.874-11T>C single nucleotide variant not provided [RCV003724078] Chr5:16477799 [GRCh38]
Chr5:16477908 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.330A>G (p.Ala110=) single nucleotide variant not provided [RCV003728779] Chr5:16572093 [GRCh38]
Chr5:16572202 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.1467C>T (p.Phe489=) single nucleotide variant not provided [RCV003734892] Chr5:16474768 [GRCh38]
Chr5:16474877 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.228G>A (p.Val76=) single nucleotide variant not provided [RCV003705168] Chr5:16616744 [GRCh38]
Chr5:16616853 [GRCh37]
Chr5:5p15.1		 benign
NM_001034850.3(RETREG1):c.808+13T>G single nucleotide variant not provided [RCV003705228] Chr5:16478837 [GRCh38]
Chr5:16478946 [GRCh37]
Chr5:5p15.1		 likely benign
NM_001034850.3(RETREG1):c.792G>A (p.Lys264=) single nucleotide variant not provided [RCV003721159] Chr5:16478866 [GRCh38]
Chr5:16478975 [GRCh37]
Chr5:5p15.1		 likely benign
GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1 copy number loss not specified [RCV003986544] Chr5:113576..28300709 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1 copy number loss not specified [RCV003986593] Chr5:113576..19388145 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1 copy number loss not specified [RCV003986598] Chr5:3272715..17317051 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1 copy number loss not specified [RCV003986560] Chr5:113576..26534253 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1 copy number loss not specified [RCV003986589] Chr5:113576..17511896 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1 copy number loss not specified [RCV003986556] Chr5:5259461..29748394 [GRCh37]
Chr5:5p15.32-13.3		 pathogenic
NM_001034850.3(RETREG1):c.820_823del (p.Glu274fs) deletion not provided [RCV003562595] Chr5:16478084..16478087 [GRCh38]
Chr5:16478193..16478196 [GRCh37]
Chr5:5p15.1		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3 copy number gain not provided [RCV004442822] Chr5:113577..31773283 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_001034850.3(RETREG1):c.1054T>G (p.Ser352Ala) single nucleotide variant Inborn genetic diseases [RCV004446032] Chr5:16475181 [GRCh38]
Chr5:16475290 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.66G>C (p.Gln22His) single nucleotide variant Inborn genetic diseases [RCV004446034] Chr5:16616906 [GRCh38]
Chr5:16617015 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.148G>A (p.Ala50Thr) single nucleotide variant Inborn genetic diseases [RCV004446033] Chr5:16616824 [GRCh38]
Chr5:16616933 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1076C>A (p.Thr359Lys) single nucleotide variant Inborn genetic diseases [RCV004658218] Chr5:16475159 [GRCh38]
Chr5:16475268 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1166A>C (p.Glu389Ala) single nucleotide variant Inborn genetic diseases [RCV004671849] Chr5:16475069 [GRCh38]
Chr5:16475178 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.1229G>A (p.Ser410Asn) single nucleotide variant not provided [RCV004726076] Chr5:16475006 [GRCh38]
Chr5:16475115 [GRCh37]
Chr5:5p15.1		 uncertain significance
NM_001034850.3(RETREG1):c.863T>C (p.Leu288Pro) single nucleotide variant not provided [RCV004773970] Chr5:16478044 [GRCh38]
Chr5:16478153 [GRCh37]
Chr5:5p15.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1685
Count of miRNA genes:722
Interacting mature miRNAs:844
Transcripts:ENST00000306320, ENST00000399793, ENST00000506441, ENST00000509048, ENST00000509977, ENST00000510362
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407269829GWAS918805_Hbody height QTL GWAS918805 (human)6e-09body height (VT:0001253)body height (CMO:0000106)51656071016560711Human
407049782GWAS698758_Hcarnosine measurement QTL GWAS698758 (human)0.000005blood carnosine amount (VT:0010990)51658225116582252Human
407055636GWAS704612_Hvenous thromboembolism QTL GWAS704612 (human)0.0000003venous thromboembolism51657204416572045Human
406914907GWAS563883_Hfacial morphology QTL GWAS563883 (human)0.000002facial morphology trait (VT:0003743)51649016616490167Human
406998255GWAS647231_HOrofacial cleft, vitamin supplement exposure measurement QTL GWAS647231 (human)0.0000004Orofacial cleft, vitamin supplement exposure measurement51650907416509075Human
406969759GWAS618735_Hparental longevity QTL GWAS618735 (human)0.000007parental longevity51648474316484744Human
407008940GWAS657916_Hdiffusing capacity of the lung for carbon monoxide QTL GWAS657916 (human)0.000009diffusing capacity of the lung for carbon monoxide51661318116613182Human

Markers in Region
SHGC-77754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37516,533,498 - 16,533,785UniSTSGRCh37
Build 36516,586,498 - 16,586,785RGDNCBI36
Celera516,557,168 - 16,557,455RGD
Cytogenetic Map5p15.1UniSTS
HuRef516,505,812 - 16,506,099UniSTS
TNG Radiation Hybrid Map58936.0UniSTS
SHGC-85175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37516,539,603 - 16,539,886UniSTSGRCh37
Build 36516,592,603 - 16,592,886RGDNCBI36
Celera516,563,273 - 16,563,556RGD
Cytogenetic Map5p15.1UniSTS
HuRef516,511,877 - 16,512,160UniSTS
TNG Radiation Hybrid Map58940.0UniSTS
D5S2532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37516,568,111 - 16,568,246UniSTSGRCh37
Build 36516,621,111 - 16,621,246RGDNCBI36
Celera516,591,780 - 16,591,915RGD
Cytogenetic Map5p15.1UniSTS
HuRef516,540,345 - 16,540,480UniSTS
TNG Radiation Hybrid Map58908.0UniSTS
STS-N47332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37516,473,182 - 16,473,322UniSTSGRCh37
Build 36516,526,182 - 16,526,322RGDNCBI36
Celera516,496,801 - 16,496,941RGD
Cytogenetic Map5p15.1UniSTS
HuRef516,445,094 - 16,445,234UniSTS
GeneMap99-GB4 RH Map562.64UniSTS
NCBI RH Map553.1UniSTS
RH47732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37516,474,845 - 16,475,017UniSTSGRCh37
Build 36516,527,845 - 16,528,017RGDNCBI36
Celera516,498,464 - 16,498,636RGD
Cytogenetic Map5p15.1UniSTS
HuRef516,446,758 - 16,446,930UniSTS
GeneMap99-GB4 RH Map560.1UniSTS
NCBI RH Map553.1UniSTS
D5S2685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37516,476,382 - 16,476,544UniSTSGRCh37
Build 36516,529,382 - 16,529,544RGDNCBI36
Celera516,500,001 - 16,500,163RGD
Cytogenetic Map5p15.1UniSTS
HuRef516,448,295 - 16,448,457UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2431 2788 2250 4960 1722 2343 5 619 1913 462 2269 7255 6430 53 3719 850 1739 1612 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001034850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC020980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI261750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG430512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG722905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR994722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA136983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000306320   ⟹   ENSP00000304642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,473,053 - 16,616,997 (-)Ensembl
Ensembl Acc Id: ENST00000399793   ⟹   ENSP00000382691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,473,053 - 16,508,998 (-)Ensembl
Ensembl Acc Id: ENST00000506441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,482,997 - 16,508,686 (-)Ensembl
Ensembl Acc Id: ENST00000509048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,615,480 - 16,617,001 (-)Ensembl
Ensembl Acc Id: ENST00000509977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,474,207 - 16,528,792 (-)Ensembl
Ensembl Acc Id: ENST00000510362   ⟹   ENSP00000425089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,473,038 - 16,509,436 (-)Ensembl
Ensembl Acc Id: ENST00000682033   ⟹   ENSP00000507240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,474,825 - 16,572,090 (-)Ensembl
Ensembl Acc Id: ENST00000682142   ⟹   ENSP00000506804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,473,071 - 16,508,788 (-)Ensembl
Ensembl Acc Id: ENST00000682229   ⟹   ENSP00000507342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,473,071 - 16,616,997 (-)Ensembl
Ensembl Acc Id: ENST00000682564   ⟹   ENSP00000508099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,473,071 - 16,616,994 (-)Ensembl
Ensembl Acc Id: ENST00000682628   ⟹   ENSP00000507536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,474,207 - 16,508,959 (-)Ensembl
Ensembl Acc Id: ENST00000682808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,613,676 - 16,617,038 (-)Ensembl
Ensembl Acc Id: ENST00000682828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,565,314 - 16,616,968 (-)Ensembl
Ensembl Acc Id: ENST00000682982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,473,071 - 16,616,994 (-)Ensembl
Ensembl Acc Id: ENST00000683045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,473,071 - 16,616,997 (-)Ensembl
Ensembl Acc Id: ENST00000683130   ⟹   ENSP00000507709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,474,207 - 16,508,828 (-)Ensembl
Ensembl Acc Id: ENST00000683169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,473,071 - 16,480,156 (-)Ensembl
Ensembl Acc Id: ENST00000683414   ⟹   ENSP00000508335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,474,207 - 16,508,821 (-)Ensembl
Ensembl Acc Id: ENST00000683527   ⟹   ENSP00000507253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,473,071 - 16,616,997 (-)Ensembl
Ensembl Acc Id: ENST00000683539   ⟹   ENSP00000507466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,474,675 - 16,509,436 (-)Ensembl
Ensembl Acc Id: ENST00000683973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,569,329 - 16,616,997 (-)Ensembl
Ensembl Acc Id: ENST00000684456   ⟹   ENSP00000508060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,474,207 - 16,508,858 (-)Ensembl
Ensembl Acc Id: ENST00000684521   ⟹   ENSP00000507521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,474,207 - 16,617,101 (-)Ensembl
Ensembl Acc Id: ENST00000684695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl516,473,071 - 16,616,989 (-)Ensembl
RefSeq Acc Id: NM_001034850   ⟹   NP_001030022
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38516,473,053 - 16,616,997 (-)NCBI
GRCh37516,472,922 - 16,617,167 (-)NCBI
Build 36516,526,147 - 16,670,118 (-)NCBI Archive
Celera516,496,766 - 16,640,783 (-)RGD
HuRef516,445,059 - 16,589,261 (-)NCBI
CHM1_1516,473,095 - 16,617,108 (-)NCBI
T2T-CHM13v2.0516,412,398 - 16,556,330 (-)NCBI
Sequence:
RefSeq Acc Id: NM_019000   ⟹   NP_061873
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38516,473,053 - 16,508,998 (-)NCBI
GRCh37516,472,922 - 16,617,167 (-)NCBI
Build 36516,526,147 - 16,562,031 (-)NCBI Archive
Celera516,496,766 - 16,640,783 (-)RGD
HuRef516,445,059 - 16,589,261 (-)NCBI
CHM1_1516,473,095 - 16,509,042 (-)NCBI
T2T-CHM13v2.0516,412,398 - 16,448,338 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514053   ⟹   XP_011512355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38516,473,053 - 16,616,997 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514054   ⟹   XP_011512356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38516,473,053 - 16,508,998 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514055   ⟹   XP_011512357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38516,473,053 - 16,542,874 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054352831   ⟹   XP_054208806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0516,412,398 - 16,556,330 (-)NCBI
RefSeq Acc Id: XM_054352832   ⟹   XP_054208807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0516,412,398 - 16,448,338 (-)NCBI
RefSeq Acc Id: XM_054352833   ⟹   XP_054208808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0516,412,398 - 16,482,206 (-)NCBI
RefSeq Acc Id: NP_001030022   ⟸   NM_001034850
- Peptide Label: isoform 1
- UniProtKB: Q9H764 (UniProtKB/Swiss-Prot),   Q9H6K6 (UniProtKB/Swiss-Prot),   Q69YN8 (UniProtKB/Swiss-Prot),   Q9NXM8 (UniProtKB/Swiss-Prot),   Q9H6L5 (UniProtKB/Swiss-Prot),   A0A804HKW5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_061873   ⟸   NM_019000
- Peptide Label: isoform 2
- UniProtKB: Q9H6L5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011512355   ⟸   XM_011514053
- Peptide Label: isoform X1
- UniProtKB: A0A804HKW5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512357   ⟸   XM_011514055
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011512356   ⟸   XM_011514054
- Peptide Label: isoform X2
- UniProtKB: A0A804HHX5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000304642   ⟸   ENST00000306320
Ensembl Acc Id: ENSP00000382691   ⟸   ENST00000399793
Ensembl Acc Id: ENSP00000425089   ⟸   ENST00000510362
Ensembl Acc Id: ENSP00000507536   ⟸   ENST00000682628
Ensembl Acc Id: ENSP00000508060   ⟸   ENST00000684456
Ensembl Acc Id: ENSP00000508099   ⟸   ENST00000682564
Ensembl Acc Id: ENSP00000507240   ⟸   ENST00000682033
Ensembl Acc Id: ENSP00000507709   ⟸   ENST00000683130
Ensembl Acc Id: ENSP00000507466   ⟸   ENST00000683539
Ensembl Acc Id: ENSP00000507342   ⟸   ENST00000682229
Ensembl Acc Id: ENSP00000506804   ⟸   ENST00000682142
Ensembl Acc Id: ENSP00000507253   ⟸   ENST00000683527
Ensembl Acc Id: ENSP00000508335   ⟸   ENST00000683414
Ensembl Acc Id: ENSP00000507521   ⟸   ENST00000684521
RefSeq Acc Id: XP_054208806   ⟸   XM_054352831
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208808   ⟸   XM_054352833
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054208807   ⟸   XM_054352832
- Peptide Label: isoform X2
- UniProtKB: A0A804HHX5 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H6L5-F1-model_v2 AlphaFold Q9H6L5 1-497 view protein structure

Promoters
RGD ID:6869280
Promoter ID:EPDNEW_H7804
Type:initiation region
Name:FAM134B_3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7805  EPDNEW_H7806  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38516,508,828 - 16,508,888EPDNEW
RGD ID:6869282
Promoter ID:EPDNEW_H7805
Type:initiation region
Name:FAM134B_2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7804  EPDNEW_H7806  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38516,508,998 - 16,509,058EPDNEW
RGD ID:6803184
Promoter ID:HG_KWN:49823
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_019000
Position:
Human AssemblyChrPosition (strand)Source
Build 36516,562,111 - 16,562,611 (-)MPROMDB
RGD ID:6869284
Promoter ID:EPDNEW_H7806
Type:initiation region
Name:FAM134B_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7804  EPDNEW_H7805  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38516,616,997 - 16,617,057EPDNEW
RGD ID:6803183
Promoter ID:HG_KWN:49824
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:NM_001034850
Position:
Human AssemblyChrPosition (strand)Source
Build 36516,670,051 - 16,671,067 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25964 AgrOrtholog
COSMIC RETREG1 COSMIC
Ensembl Genes ENSG00000154153 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000306320 ENTREZGENE
  ENST00000306320.10 UniProtKB/Swiss-Prot
  ENST00000399793 ENTREZGENE
  ENST00000399793.6 UniProtKB/Swiss-Prot
  ENST00000510362.6 UniProtKB/TrEMBL
  ENST00000682033.1 UniProtKB/TrEMBL
  ENST00000682142 ENTREZGENE
  ENST00000682142.1 UniProtKB/TrEMBL
  ENST00000682229.1 UniProtKB/TrEMBL
  ENST00000682564.1 UniProtKB/TrEMBL
  ENST00000682628.1 UniProtKB/TrEMBL
  ENST00000683130.1 UniProtKB/TrEMBL
  ENST00000683414.1 UniProtKB/TrEMBL
  ENST00000683527.1 UniProtKB/TrEMBL
  ENST00000683539.1 UniProtKB/TrEMBL
  ENST00000684456.1 UniProtKB/TrEMBL
  ENST00000684521.1 UniProtKB/TrEMBL
GTEx ENSG00000154153 GTEx
HGNC ID HGNC:25964 ENTREZGENE
Human Proteome Map RETREG1 Human Proteome Map
InterPro RETR1_RHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RETREG1/3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54463 UniProtKB/Swiss-Prot
NCBI Gene 54463 ENTREZGENE
OMIM 613114 OMIM
PANTHER PTHR28659 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR28659:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162386188 PharmGKB
UniProt A0A804HHX5 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HIV2_HUMAN UniProtKB/TrEMBL
  A0A804HIW5_HUMAN UniProtKB/TrEMBL
  A0A804HJ37_HUMAN UniProtKB/TrEMBL
  A0A804HJI9_HUMAN UniProtKB/TrEMBL
  A0A804HJZ6_HUMAN UniProtKB/TrEMBL
  A0A804HKT1_HUMAN UniProtKB/TrEMBL
  A0A804HKW5 ENTREZGENE, UniProtKB/TrEMBL
  H0Y9U4_HUMAN UniProtKB/TrEMBL
  Q69YN8 ENTREZGENE
  Q9H6K6 ENTREZGENE
  Q9H6L5 ENTREZGENE
  Q9H764 ENTREZGENE
  Q9NXM8 ENTREZGENE
  RETR1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q69YN8 UniProtKB/Swiss-Prot
  Q9H6K6 UniProtKB/Swiss-Prot
  Q9H764 UniProtKB/Swiss-Prot
  Q9NXM8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-21 RETREG1  reticulophagy regulator 1  FAM134B  family with sequence similarity 134 member B  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM134B  family with sequence similarity 134 member B    family with sequence similarity 134, member B  Symbol and/or name change 5135510 APPROVED