TOE1 (target of EGR1, exonuclease) - Rat Genome Database

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Gene: TOE1 (target of EGR1, exonuclease) Homo sapiens
Analyze
Symbol: TOE1
Name: target of EGR1, exonuclease
RGD ID: 1319240
HGNC Page HGNC:15954
Description: Enables poly(A)-specific ribonuclease activity and snRNA binding activity. Involved in snRNA 3'-end processing. Located in Cajal body and cytoplasm. Implicated in pontocerebellar hypoplasia type 7.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ13949; hCaf1z; PCH7; target of EGR1 protein 1; target of EGR1, member 1 (nuclear); TOE-1
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
GRCh38145,340,170 - 45,343,973 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl145,340,052 - 45,343,973 (+)EnsemblGRCh38hg38GRCh38
GRCh37145,805,842 - 45,809,645 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36145,577,929 - 45,582,237 (+)NCBINCBI36Build 36hg18NCBI36
Build 34145,474,434 - 45,478,467NCBI
Celera144,088,718 - 44,093,026 (+)NCBICelera
Cytogenetic Map1p34.1NCBI
HuRef143,916,889 - 43,921,125 (+)NCBIHuRef
CHM1_1145,922,145 - 45,926,453 (+)NCBICHM1_1
T2T-CHM13v2.0145,211,720 - 45,215,530 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
Cajal body  (IBA,IDA)
cytoplasm  (IDA)
nuclear body  (IDA)
nuclear speck  (IEA)
nucleolus  (IEA)
nucleoplasm  (IDA)
nucleus  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal scrotal rugation  (IAGP)
Absent penis  (IAGP)
Absent speech  (IAGP)
Ambiguous genitalia  (IAGP)
Aplasia of the uterus  (IAGP)
Apnea  (IAGP)
Ataxia  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Broad nasal tip  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Choreoathetosis  (IAGP)
Clitoral hypertrophy  (IAGP)
Colon cancer  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Deep philtrum  (IAGP)
Depressed nasal bridge  (IAGP)
Epicanthus  (IAGP)
Fasciculations  (IAGP)
Fatigable weakness of skeletal muscles  (IAGP)
Feeding difficulties  (IAGP)
Global developmental delay  (IAGP)
Gonadal dysgenesis  (IAGP)
High palate  (IAGP)
Hirsutism  (IAGP)
Hydrocephalus  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Involuntary movements  (IAGP)
Large forehead  (IAGP)
Low-set ears  (IAGP)
Macrotia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microphallus  (IAGP)
Muscle weakness  (IAGP)
Myoclonus  (IAGP)
Nystagmus  (IAGP)
Oculomotor apraxia  (IAGP)
Olivopontocerebellar hypoplasia  (IAGP)
Opisthotonus  (IAGP)
Optic atrophy  (IAGP)
Pectus carinatum  (IAGP)
Progressive microcephaly  (IAGP)
Prominent supraorbital ridges  (IAGP)
Seizure  (IAGP)
Single transverse palmar crease  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Stomach cancer  (IAGP)
Synophrys  (IAGP)
Thick upper lip vermilion  (IAGP)
Tongue fasciculations  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7829101   PMID:12477932   PMID:12562764   PMID:14702039   PMID:15146077   PMID:15489334   PMID:16169070   PMID:16344560   PMID:16710414   PMID:17081983   PMID:17178830   PMID:19274049  
PMID:19508870   PMID:21081503   PMID:21145461   PMID:21642987   PMID:21873635   PMID:22174317   PMID:22365833   PMID:22939629   PMID:23151878   PMID:23891004   PMID:24550385   PMID:26056259  
PMID:26186194   PMID:26344197   PMID:26496610   PMID:27634302   PMID:28092684   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28695742   PMID:29467282   PMID:29509190   PMID:29669292  
PMID:29802200   PMID:29884807   PMID:29955894   PMID:30196744   PMID:30371886   PMID:30463901   PMID:30948266   PMID:31048545   PMID:31076518   PMID:31091453   PMID:31527615   PMID:31586073  
PMID:31871319   PMID:32572027   PMID:32707033   PMID:32807901   PMID:32814053   PMID:32994395   PMID:33742100   PMID:33863777   PMID:33961781   PMID:34186245   PMID:34373451   PMID:35013218  
PMID:35013556   PMID:35256949   PMID:35271311   PMID:35850772   PMID:35944360   PMID:36215168   PMID:36244648   PMID:36273042   PMID:36424410   PMID:36526897   PMID:36537216   PMID:36574265  
PMID:36738896   PMID:36774506   PMID:37001908   PMID:37267103   PMID:37314180   PMID:37478862   PMID:37635087   PMID:37689310   PMID:37827155   PMID:38113892   PMID:38496616   PMID:38697112  


Genomics

Comparative Map Data
TOE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38145,340,170 - 45,343,973 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl145,340,052 - 45,343,973 (+)EnsemblGRCh38hg38GRCh38
GRCh37145,805,842 - 45,809,645 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36145,577,929 - 45,582,237 (+)NCBINCBI36Build 36hg18NCBI36
Build 34145,474,434 - 45,478,467NCBI
Celera144,088,718 - 44,093,026 (+)NCBICelera
Cytogenetic Map1p34.1NCBI
HuRef143,916,889 - 43,921,125 (+)NCBIHuRef
CHM1_1145,922,145 - 45,926,453 (+)NCBICHM1_1
T2T-CHM13v2.0145,211,720 - 45,215,530 (+)NCBIT2T-CHM13v2.0
Toe1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394116,661,199 - 116,664,785 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4116,651,507 - 116,664,837 (-)EnsemblGRCm39 Ensembl
GRCm384116,804,003 - 116,807,601 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4116,794,310 - 116,807,640 (-)EnsemblGRCm38mm10GRCm38
MGSCv374116,476,608 - 116,480,164 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364116,301,935 - 116,305,491 (-)NCBIMGSCv36mm8
Celera4115,538,951 - 115,542,507 (-)NCBICelera
Cytogenetic Map4D1NCBI
cM Map453.33NCBI
Toe1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85135,507,116 - 135,510,682 (-)NCBIGRCr8
mRatBN7.25130,270,484 - 130,274,050 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5130,262,319 - 130,274,050 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5132,896,417 - 132,899,984 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05134,651,019 - 134,654,586 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05134,673,421 - 134,676,988 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05135,659,733 - 135,663,299 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5135,659,734 - 135,663,299 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05139,456,024 - 139,459,589 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45137,100,321 - 137,103,886 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15137,105,561 - 137,108,984 (-)NCBI
Celera5128,797,155 - 128,800,720 (-)NCBICelera
Cytogenetic Map5q35NCBI
Toe1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546412,924,191 - 12,927,567 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546412,924,185 - 12,927,567 (-)NCBIChiLan1.0ChiLan1.0
TOE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21181,464,610 - 181,468,420 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11180,606,140 - 180,609,879 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0144,642,812 - 44,646,808 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1146,000,974 - 46,005,279 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl146,000,713 - 46,005,279 (+)Ensemblpanpan1.1panPan2
TOE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11515,014,790 - 15,018,285 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1515,015,098 - 15,018,276 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1515,136,140 - 15,139,619 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01515,170,118 - 15,173,597 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1515,170,115 - 15,173,604 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11514,967,231 - 14,970,707 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01515,035,100 - 15,038,579 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01515,107,210 - 15,110,689 (-)NCBIUU_Cfam_GSD_1.0
Toe1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505860,667,934 - 60,671,359 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647426,492,450 - 26,496,132 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647426,492,656 - 26,496,722 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TOE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6165,999,904 - 166,012,377 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16165,999,920 - 166,003,570 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26153,408,248 - 153,411,970 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TOE1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12087,446,367 - 87,450,832 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2087,444,683 - 87,450,232 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603329,511,211 - 29,515,693 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Toe1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249061,247,372 - 1,251,305 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249061,247,860 - 1,251,553 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TOE1
281 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33		 pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 copy number gain See cases [RCV000051803] Chr1:38222737..45636176 [GRCh38]
Chr1:38688409..46101848 [GRCh37]
Chr1:38460996..45874435 [NCBI36]
Chr1:1p34.3-34.1		 pathogenic
NM_025077.3(TOE1):c.551G>A (p.Arg184His) single nucleotide variant Malignant melanoma [RCV000064793] Chr1:45342442 [GRCh38]
Chr1:45808114 [GRCh37]
Chr1:45580701 [NCBI36]
Chr1:1p34.1		 not provided
NM_025077.4(TOE1):c.-45G>A single nucleotide variant Carcinoma of colon [RCV001353844]|Familial adenomatous polyposis 2 [RCV001097390]|Hereditary cancer-predisposing syndrome [RCV000579941]|Pontocerebellar hypoplasia type 7 [RCV003103733]|not provided [RCV001573000]|not specified [RCV000126892] Chr1:45340208 [GRCh38]
Chr1:45805880 [GRCh37]
Chr1:1p34.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128425.2(MUTYH):c.36+20C>G single nucleotide variant Familial adenomatous polyposis 2 [RCV000410676]|Hereditary cancer-predisposing syndrome [RCV000580449]|not specified [RCV000419816] Chr1:45340199 [GRCh38]
Chr1:45805871 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.10C>G (p.Leu4Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000131438] Chr1:45340245 [GRCh38]
Chr1:45805917 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr) single nucleotide variant Familial adenomatous polyposis 2 [RCV000458224]|Familial adenomatous polyposis 2 [RCV002483273]|Hereditary cancer-predisposing syndrome [RCV000132425]|MUTYH-related disorder [RCV004739462]|not provided [RCV000656906]|not specified [RCV000212695] Chr1:45340238 [GRCh38]
Chr1:45805910 [GRCh37]
Chr1:1p34.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3 copy number gain See cases [RCV000134906] Chr1:44962358..45585262 [GRCh38]
Chr1:45428030..46050934 [GRCh37]
Chr1:45200617..45823521 [NCBI36]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+20C>A single nucleotide variant Familial adenomatous polyposis 2 [RCV000412343]|Hereditary cancer-predisposing syndrome [RCV000776104]|not provided [RCV000160750] Chr1:45340199 [GRCh38]
Chr1:45805871 [GRCh37]
Chr1:1p34.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128425.2(MUTYH):c.13G>C (p.Val5Leu) single nucleotide variant Familial adenomatous polyposis 2 [RCV001850298]|Hereditary cancer-predisposing syndrome [RCV000164470] Chr1:45340242 [GRCh38]
Chr1:45805914 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.15C>A (p.Val5=) single nucleotide variant Familial adenomatous polyposis 2 [RCV000543594] Chr1:45340240 [GRCh38]
Chr1:45805912 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.36+10A>C single nucleotide variant Familial adenomatous polyposis 2 [RCV000545977]|Hereditary cancer-predisposing syndrome [RCV000583042]|not specified [RCV003323599] Chr1:45340209 [GRCh38]
Chr1:45805881 [GRCh37]
Chr1:1p34.1		 likely benign|uncertain significance
NM_001128425.2(MUTYH):c.7C>G (p.Pro3Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217552] Chr1:45340248 [GRCh38]
Chr1:45805920 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1141G>A (p.Glu381Lys) single nucleotide variant not provided [RCV000514282]|not specified [RCV001821436] Chr1:45343310 [GRCh38]
Chr1:45808982 [GRCh37]
Chr1:1p34.1		 benign|likely benign
NM_001128425.2(MUTYH):c.-4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217729]|not provided [RCV001705215]|not specified [RCV000236456] Chr1:45340258 [GRCh38]
Chr1:45805930 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+5G>A single nucleotide variant Familial adenomatous polyposis 2 [RCV001064196]|Hereditary cancer-predisposing syndrome [RCV000217740]|not specified [RCV000507237] Chr1:45340214 [GRCh38]
Chr1:45805886 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+3A>T single nucleotide variant Familial adenomatous polyposis 2 [RCV000640392]|Hereditary cancer-predisposing syndrome [RCV000220129]|not provided [RCV000985859] Chr1:45340216 [GRCh38]
Chr1:45805888 [GRCh37]
Chr1:1p34.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_001128425.2(MUTYH):c.17C>G (p.Ser6Cys) single nucleotide variant Familial adenomatous polyposis 2 [RCV000640357]|Hereditary cancer-predisposing syndrome [RCV000214713]|not provided [RCV001762479] Chr1:45340238 [GRCh38]
Chr1:45805910 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.2T>C (p.Met1Thr) single nucleotide variant Familial adenomatous polyposis 2 [RCV000687399]|Gastric cancer [RCV003165560]|Hereditary cancer-predisposing syndrome [RCV000223135]|not provided [RCV001770172]|not specified [RCV002282055] Chr1:45340253 [GRCh38]
Chr1:45805925 [GRCh37]
Chr1:1p34.1		 pathogenic|uncertain significance
NM_001128425.2(MUTYH):c.12C>A (p.Leu4=) single nucleotide variant Familial adenomatous polyposis 2 [RCV002054981]|Hereditary cancer-predisposing syndrome [RCV000221630] Chr1:45340243 [GRCh38]
Chr1:45805915 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.8C>T (p.Pro3Leu) single nucleotide variant Familial adenomatous polyposis 2 [RCV000818843]|Hereditary cancer-predisposing syndrome [RCV000215169] Chr1:45340247 [GRCh38]
Chr1:45805919 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.31C>G (p.Leu11Val) single nucleotide variant Familial adenomatous polyposis 2 [RCV000227994]|Hereditary cancer-predisposing syndrome [RCV001019150] Chr1:45340224 [GRCh38]
Chr1:45805896 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+4C>G single nucleotide variant Familial adenomatous polyposis 2 [RCV001857808]|Hereditary cancer-predisposing syndrome [RCV001020693]|not provided [RCV000766680]|not specified [RCV000237070] Chr1:45340215 [GRCh38]
Chr1:45805887 [GRCh37]
Chr1:1p34.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128425.2(MUTYH):c.29G>A (p.Arg10His) single nucleotide variant Familial adenomatous polyposis 2 [RCV000527208]|Hereditary cancer-predisposing syndrome [RCV000565975]|not specified [RCV001731760] Chr1:45340226 [GRCh38]
Chr1:45805898 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.9G>T (p.Pro3=) single nucleotide variant Familial adenomatous polyposis 2 [RCV000640405]|Hereditary cancer-predisposing syndrome [RCV000566305]|not specified [RCV002232094] Chr1:45340246 [GRCh38]
Chr1:45805918 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.-100C>A single nucleotide variant Familial adenomatous polyposis 2 [RCV000282662] Chr1:45340354 [GRCh38]
Chr1:45806026 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.-177T>C single nucleotide variant Familial adenomatous polyposis 2 [RCV000337258] Chr1:45340431 [GRCh38]
Chr1:45806103 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter) single nucleotide variant Familial adenomatous polyposis 2 [RCV001853721]|Hereditary cancer-predisposing syndrome [RCV000569145] Chr1:45340219 [GRCh38]
Chr1:45805891 [GRCh37]
Chr1:1p34.1		 pathogenic|likely pathogenic
NM_001128425.2(MUTYH):c.36+20C>T single nucleotide variant Familial adenomatous polyposis 2 [RCV002531526]|Hereditary cancer-predisposing syndrome [RCV001190147]|not specified [RCV000602790] Chr1:45340199 [GRCh38]
Chr1:45805871 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.9G>A (p.Pro3=) single nucleotide variant Familial adenomatous polyposis 2 [RCV000552322]|Hereditary cancer-predisposing syndrome [RCV003159816] Chr1:45340246 [GRCh38]
Chr1:45805918 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.36+18T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582310] Chr1:45340201 [GRCh38]
Chr1:45805873 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.36+11C>G single nucleotide variant Familial adenomatous polyposis 2 [RCV002061872]|Hereditary cancer-predisposing syndrome [RCV000584461] Chr1:45340208 [GRCh38]
Chr1:45805880 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.-3G>T single nucleotide variant Familial adenomatous polyposis 2 [RCV004001274]|Hereditary cancer-predisposing syndrome [RCV000580958] Chr1:45340257 [GRCh38]
Chr1:45805929 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.31C>T (p.Leu11=) single nucleotide variant Familial adenomatous polyposis 2 [RCV000640414]|Hereditary cancer-predisposing syndrome [RCV002325246] Chr1:45340224 [GRCh38]
Chr1:45805896 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.29G>C (p.Arg10Pro) single nucleotide variant Familial adenomatous polyposis 2 [RCV001065926]|Hereditary cancer-predisposing syndrome [RCV000581823] Chr1:45340226 [GRCh38]
Chr1:45805898 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+1G>A single nucleotide variant Familial adenomatous polyposis 2 [RCV001853782]|Hereditary cancer-predisposing syndrome [RCV000569246]|not provided [RCV000761658] Chr1:45340218 [GRCh38]
Chr1:45805890 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NM_001128425.2(MUTYH):c.36+7T>C single nucleotide variant Familial adenomatous polyposis 2 [RCV000975667]|Hereditary cancer-predisposing syndrome [RCV000583789]|MUTYH-related disorder [RCV004543290] Chr1:45340212 [GRCh38]
Chr1:45805884 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.36+1G>C single nucleotide variant Gastric cancer [RCV003164713] Chr1:45340218 [GRCh38]
Chr1:45805890 [GRCh37]
Chr1:1p34.1		 pathogenic
NM_001128425.2(MUTYH):c.36+1del deletion Gastric cancer [RCV003164649] Chr1:45340218 [GRCh38]
Chr1:45805890 [GRCh37]
Chr1:1p34.1		 pathogenic
NM_001128425.2(MUTYH):c.8C>G (p.Pro3Arg) single nucleotide variant Familial adenomatous polyposis 2 [RCV000695272]|Hereditary cancer-predisposing syndrome [RCV000572771] Chr1:45340247 [GRCh38]
Chr1:45805919 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.-13A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188616]|not specified [RCV000432156] Chr1:45340267 [GRCh38]
Chr1:45805939 [GRCh37]
Chr1:1p34.1		 likely benign|uncertain significance
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1 copy number loss See cases [RCV000448358] Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3		 likely pathogenic
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr) single nucleotide variant Inborn genetic diseases [RCV004678720]|Pontocerebellar hypoplasia type 7 [RCV000477680]|not provided [RCV004722812] Chr1:45342058 [GRCh38]
Chr1:45807730 [GRCh37]
Chr1:1p34.1		 pathogenic|likely pathogenic|uncertain significance
TOE1, 2-BP DEL deletion Pontocerebellar hypoplasia, type 7 [RCV000477688] Chr1:1p34.1 pathogenic
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV000477708] Chr1:45341543 [GRCh38]
Chr1:45807215 [GRCh37]
Chr1:1p34.1		 pathogenic|likely pathogenic
NM_025077.4(TOE1):c.957C>A (p.His319Gln) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV000477716] Chr1:45343126 [GRCh38]
Chr1:45808798 [GRCh37]
Chr1:1p34.1		 pathogenic
NM_025077.4(TOE1):c.658G>A (p.Glu220Lys) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV000477732] Chr1:45342549 [GRCh38]
Chr1:45808221 [GRCh37]
Chr1:1p34.1		 pathogenic|likely pathogenic
NM_025077.4(TOE1):c.518T>G (p.Val173Gly) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV000477747] Chr1:45342409 [GRCh38]
Chr1:45808081 [GRCh37]
Chr1:1p34.1		 pathogenic|likely pathogenic
NM_001128425.2(MUTYH):c.2T>G (p.Met1Arg) single nucleotide variant Familial adenomatous polyposis 2 [RCV000464651] Chr1:45340253 [GRCh38]
Chr1:45805925 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.9_10delinsAA (p.Leu4Ile) indel Familial adenomatous polyposis 2 [RCV002526587]|Hereditary cancer-predisposing syndrome [RCV002376876]|not specified [RCV000481735] Chr1:45340245..45340246 [GRCh38]
Chr1:45805917..45805918 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.34T>C (p.Trp12Arg) single nucleotide variant Familial adenomatous polyposis 2 [RCV000468941] Chr1:45340221 [GRCh38]
Chr1:45805893 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter) single nucleotide variant Familial adenomatous polyposis 2 [RCV001209233]|Hereditary cancer-predisposing syndrome [RCV003168963]|not provided [RCV000478455] Chr1:45340220 [GRCh38]
Chr1:45805892 [GRCh37]
Chr1:1p34.1		 pathogenic|likely pathogenic
NM_001128425.2(MUTYH):c.22C>T (p.Leu8=) single nucleotide variant Familial adenomatous polyposis 2 [RCV000476955]|Hereditary cancer-predisposing syndrome [RCV000573715]|MUTYH-related disorder [RCV004535448]|not specified [RCV000610552] Chr1:45340233 [GRCh38]
Chr1:45805905 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.36+8G>A single nucleotide variant Familial adenomatous polyposis 2 [RCV001421521] Chr1:45340211 [GRCh38]
Chr1:45805883 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.36+10A>G single nucleotide variant Familial adenomatous polyposis 2 [RCV000466341]|not specified [RCV004689750] Chr1:45340209 [GRCh38]
Chr1:45805881 [GRCh37]
Chr1:1p34.1		 likely benign
GRCh37/hg19 1p34.1(chr1:45715667-46501705)x3 copy number gain See cases [RCV000510158] Chr1:45715667..46501705 [GRCh37]
Chr1:1p34.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001128425.2(MUTYH):c.-127C>T single nucleotide variant Familial adenomatous polyposis 2 [RCV001097391]|Hereditary cancer-predisposing syndrome [RCV000491011]|not provided [RCV000504244] Chr1:45340381 [GRCh38]
Chr1:45806053 [GRCh37]
Chr1:1p34.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001128425.2(MUTYH):c.20G>T (p.Arg7Leu) single nucleotide variant Familial adenomatous polyposis 2 [RCV001238814]|Hereditary cancer-predisposing syndrome [RCV000491930] Chr1:45340235 [GRCh38]
Chr1:45805907 [GRCh37]
Chr1:1p34.1		 uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_025077.4(TOE1):c.1034G>A (p.Arg345Gln) single nucleotide variant Inborn genetic diseases [RCV003274614] Chr1:45343203 [GRCh38]
Chr1:45808875 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+6C>G single nucleotide variant Familial adenomatous polyposis 2 [RCV000558522]|Hereditary cancer-predisposing syndrome [RCV000776735] Chr1:45340213 [GRCh38]
Chr1:45805885 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+4C>T single nucleotide variant Familial adenomatous polyposis 2 [RCV000640361]|Hereditary cancer-predisposing syndrome [RCV000574593] Chr1:45340215 [GRCh38]
Chr1:45805887 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.940_941del (p.Gln314fs) microsatellite Pontocerebellar hypoplasia type 7 [RCV000477688]|not provided [RCV000627613] Chr1:45343107..45343108 [GRCh38]
Chr1:45808779..45808780 [GRCh37]
Chr1:1p34.1		 pathogenic|conflicting interpretations of pathogenicity
NM_001128425.2(MUTYH):c.14T>C (p.Val5Ala) single nucleotide variant Familial adenomatous polyposis 2 [RCV000640354] Chr1:45340241 [GRCh38]
Chr1:45805913 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+7T>G single nucleotide variant Familial adenomatous polyposis 2 [RCV000640404] Chr1:45340212 [GRCh38]
Chr1:45805884 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.-37G>A single nucleotide variant not specified [RCV000613964] Chr1:45340291 [GRCh38]
Chr1:45805963 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.733G>T (p.Glu245Ter) single nucleotide variant not provided [RCV000627345] Chr1:45342624 [GRCh38]
Chr1:45808296 [GRCh37]
Chr1:1p34.1		 pathogenic|conflicting interpretations of pathogenicity
NC_000001.10:g.(?_45794968)_(45805936_?)dup duplication Familial adenomatous polyposis 2 [RCV000707816] Chr1:45329296..45340264 [GRCh38]
Chr1:45794968..45805936 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.19C>T (p.Arg7Cys) single nucleotide variant Familial adenomatous polyposis 2 [RCV000698395]|Hereditary cancer-predisposing syndrome [RCV004026444] Chr1:45340236 [GRCh38]
Chr1:45805908 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+4dup duplication Familial adenomatous polyposis 2 [RCV000695258]|Hereditary cancer-predisposing syndrome [RCV000776728]|not provided [RCV003478421] Chr1:45340214..45340215 [GRCh38]
Chr1:45805886..45805887 [GRCh37]
Chr1:1p34.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_001128425.2(MUTYH):c.-126T>C single nucleotide variant Familial adenomatous polyposis 2 [RCV000986310] Chr1:45340380 [GRCh38]
Chr1:45806052 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.270T>C (p.His90=) single nucleotide variant not provided [RCV000969137] Chr1:45341506 [GRCh38]
Chr1:45807178 [GRCh37]
Chr1:1p34.1		 benign
NM_025077.4(TOE1):c.73A>G (p.Thr25Ala) single nucleotide variant not provided [RCV000926105] Chr1:45341093 [GRCh38]
Chr1:45806765 [GRCh37]
Chr1:1p34.1		 benign
NM_001128425.2(MUTYH):c.-19A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772790] Chr1:45340273 [GRCh38]
Chr1:45805945 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+9G>T single nucleotide variant Familial adenomatous polyposis 2 [RCV000937891]|Hereditary cancer-predisposing syndrome [RCV000772838]|not specified [RCV003387925] Chr1:45340210 [GRCh38]
Chr1:45805882 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.10C>T (p.Leu4Phe) single nucleotide variant Familial adenomatous polyposis 2 [RCV000804149]|Hereditary cancer-predisposing syndrome [RCV000772839]|not specified [RCV003387926] Chr1:45340245 [GRCh38]
Chr1:45805917 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.-2C>G single nucleotide variant Familial adenomatous polyposis 2 [RCV003461014]|Hereditary cancer-predisposing syndrome [RCV001017945]|not provided [RCV000759160] Chr1:45340256 [GRCh38]
Chr1:45805928 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.13G>A (p.Val5Ile) single nucleotide variant Familial adenomatous polyposis 2 [RCV003461040]|Hereditary cancer-predisposing syndrome [RCV000776242] Chr1:45340242 [GRCh38]
Chr1:45805914 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.196-3C>T single nucleotide variant TOE1-related disorder [RCV003960551]|not provided [RCV000942966]|not specified [RCV001818917] Chr1:45341300 [GRCh38]
Chr1:45806972 [GRCh37]
Chr1:1p34.1		 benign|likely benign
NM_025077.4(TOE1):c.930C>T (p.Pro310=) single nucleotide variant not provided [RCV000982957] Chr1:45343099 [GRCh38]
Chr1:45808771 [GRCh37]
Chr1:1p34.1		 benign
NM_025077.4(TOE1):c.104C>T (p.Pro35Leu) single nucleotide variant not provided [RCV000945020] Chr1:45341124 [GRCh38]
Chr1:45806796 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.1176G>A (p.Leu392=) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV002503005]|not provided [RCV000961003]|not specified [RCV001819030] Chr1:45343345 [GRCh38]
Chr1:45809017 [GRCh37]
Chr1:1p34.1		 benign|likely benign
NM_025077.4(TOE1):c.897C>T (p.Ile299=) single nucleotide variant TOE1-related disorder [RCV003978324]|not provided [RCV000958453]|not specified [RCV001819015] Chr1:45342987 [GRCh38]
Chr1:45808659 [GRCh37]
Chr1:1p34.1		 benign|likely benign
NM_025077.4(TOE1):c.1379C>T (p.Pro460Leu) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV002502991]|TOE1-related disorder [RCV003978325]|not provided [RCV000958454]|not specified [RCV001819016] Chr1:45343548 [GRCh38]
Chr1:45809220 [GRCh37]
Chr1:1p34.1		 benign|likely benign
NM_001128425.2(MUTYH):c.26G>A (p.Ser9Asn) single nucleotide variant Familial adenomatous polyposis 2 [RCV000800108] Chr1:45340229 [GRCh38]
Chr1:45805901 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.-180T>C single nucleotide variant Familial adenomatous polyposis 2 [RCV000986312] Chr1:45340434 [GRCh38]
Chr1:45806106 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.717C>T (p.Phe239=) single nucleotide variant not provided [RCV000915578] Chr1:45342608 [GRCh38]
Chr1:45808280 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.937C>G (p.Pro313Ala) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV000851252] Chr1:45343106 [GRCh38]
Chr1:45808778 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NM_025077.4(TOE1):c.1487C>T (p.Ser496Phe) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV000851259] Chr1:45343656 [GRCh38]
Chr1:45809328 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NC_000001.11:g.(?_45329306)_(45343656_?)dup duplication Familial adenomatous polyposis 2 [RCV001032014] Chr1:45794978..45809328 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.957C>T (p.His319=) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV000851253] Chr1:45343126 [GRCh38]
Chr1:45808798 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NM_001128425.2(MUTYH):c.-147C>T single nucleotide variant Familial adenomatous polyposis 2 [RCV000986311] Chr1:45340401 [GRCh38]
Chr1:45806073 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.35G>C (p.Trp12Ser) single nucleotide variant Familial adenomatous polyposis 2 [RCV001351536]|Hereditary cancer-predisposing syndrome [RCV001020690] Chr1:45340220 [GRCh38]
Chr1:45805892 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.1_7dup (p.Pro3fs) duplication Familial adenomatous polyposis 2 [RCV001233094] Chr1:45340247..45340248 [GRCh38]
Chr1:45805919..45805920 [GRCh37]
Chr1:1p34.1		 pathogenic
NM_001128425.2(MUTYH):c.19C>G (p.Arg7Gly) single nucleotide variant Familial adenomatous polyposis 2 [RCV001216494] Chr1:45340236 [GRCh38]
Chr1:45805908 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.955C>T (p.His319Tyr) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV000851254]|TOE1-related disorder [RCV003892775] Chr1:45343124 [GRCh38]
Chr1:45808796 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NM_025077.4(TOE1):c.219G>C (p.Arg73Ser) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV000851255] Chr1:45341326 [GRCh38]
Chr1:45806998 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NM_025077.4(TOE1):c.716T>C (p.Phe239Ser) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV000851256] Chr1:45342607 [GRCh38]
Chr1:45808279 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NM_025077.4(TOE1):c.757C>T (p.Arg253Trp) single nucleotide variant Inborn genetic diseases [RCV002538360]|Pontocerebellar hypoplasia type 7 [RCV000851257]|not provided [RCV003235419] Chr1:45342847 [GRCh38]
Chr1:45808519 [GRCh37]
Chr1:1p34.1		 likely pathogenic|uncertain significance
NM_025077.4(TOE1):c.693T>A (p.Tyr231Ter) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV000851258] Chr1:45342584 [GRCh38]
Chr1:45808256 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NM_025077.4(TOE1):c.448C>T (p.Gln150Ter) single nucleotide variant not provided [RCV001053043] Chr1:45342063 [GRCh38]
Chr1:45807735 [GRCh37]
Chr1:1p34.1		 pathogenic
NC_000001.10:g.(?_45800053)_(45809328_?)dup duplication Familial adenomatous polyposis 2 [RCV003105466] Chr1:45800053..45809328 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1476C>G (p.Phe492Leu) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV003232051] Chr1:45343645 [GRCh38]
Chr1:45809317 [GRCh37]
Chr1:1p34.1		 uncertain significance
NC_000001.11:g.45340760C>T single nucleotide variant not provided [RCV001597814] Chr1:45340760 [GRCh38]
Chr1:45806432 [GRCh37]
Chr1:1p34.1		 benign
NM_025077.4(TOE1):c.638C>A (p.Thr213Asn) single nucleotide variant not provided [RCV001587018] Chr1:45342529 [GRCh38]
Chr1:45808201 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.-13A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188222] Chr1:45340267 [GRCh38]
Chr1:45805939 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.-15T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179411] Chr1:45340269 [GRCh38]
Chr1:45805941 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.9G>C (p.Pro3=) single nucleotide variant Familial adenomatous polyposis 2 [RCV002549511]|Hereditary cancer-predisposing syndrome [RCV001019976] Chr1:45340246 [GRCh38]
Chr1:45805918 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.1131T>C (p.Pro377=) single nucleotide variant not provided [RCV000935326] Chr1:45343300 [GRCh38]
Chr1:45808972 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.913-4C>T single nucleotide variant not provided [RCV000934434] Chr1:45343078 [GRCh38]
Chr1:45808750 [GRCh37]
Chr1:1p34.1		 likely benign
GRCh37/hg19 1p34.1(chr1:45794978-45805926)x3 copy number gain not provided [RCV000994334] Chr1:45794978..45805926 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.1A>G (p.Met1Val) single nucleotide variant Familial adenomatous polyposis 2 [RCV001066037]|Hereditary cancer-predisposing syndrome [RCV001188722] Chr1:45340254 [GRCh38]
Chr1:45805926 [GRCh37]
Chr1:1p34.1		 uncertain significance
NC_000001.11:g.45340694G>A single nucleotide variant not provided [RCV001592270] Chr1:45340694 [GRCh38]
Chr1:45806366 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.13G>T (p.Val5Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177255] Chr1:45340242 [GRCh38]
Chr1:45805914 [GRCh37]
Chr1:1p34.1		 uncertain significance
GRCh37/hg19 1p34.1(chr1:45386263-45982314)x1 copy number loss not provided [RCV001005083] Chr1:45386263..45982314 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.28C>T (p.Arg10Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189247] Chr1:45340227 [GRCh38]
Chr1:45805899 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.23T>G (p.Leu8Arg) single nucleotide variant Familial adenomatous polyposis 2 [RCV001873264]|Hereditary cancer-predisposing syndrome [RCV001015414] Chr1:45340232 [GRCh38]
Chr1:45805904 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+9G>A single nucleotide variant Familial adenomatous polyposis 2 [RCV001410528]|Hereditary cancer-predisposing syndrome [RCV001179409] Chr1:45340210 [GRCh38]
Chr1:45805882 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.3G>A (p.Met1Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179410] Chr1:45340252 [GRCh38]
Chr1:45805924 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.28C>A (p.Arg10Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016909] Chr1:45340227 [GRCh38]
Chr1:45805899 [GRCh37]
Chr1:1p34.1		 likely benign
NC_000001.11:g.(?_45340209)_(45343656_?)dup duplication Familial adenomatous polyposis 2 [RCV001033110] Chr1:45805881..45809328 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+3A>G single nucleotide variant Familial adenomatous polyposis 2 [RCV001069583] Chr1:45340216 [GRCh38]
Chr1:45805888 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.-11T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187159] Chr1:45340265 [GRCh38]
Chr1:45805937 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.237-2A>G single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV001678596] Chr1:45341471 [GRCh38]
Chr1:45807143 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NC_000001.11:g.(?_44822405)_(45340264_?)dup duplication Familial adenomatous polyposis 2 [RCV001031167] Chr1:45288077..45805936 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.76T>G (p.Ser26Ala) single nucleotide variant not provided [RCV001682404] Chr1:45341096 [GRCh38]
Chr1:45806768 [GRCh37]
Chr1:1p34.1		 benign
NM_001128425.2(MUTYH):c.-165C>T single nucleotide variant Familial adenomatous polyposis 2 [RCV001097392] Chr1:45340419 [GRCh38]
Chr1:45806091 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.34T>A (p.Trp12Arg) single nucleotide variant Familial adenomatous polyposis 2 [RCV001207308] Chr1:45340221 [GRCh38]
Chr1:45805893 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.32T>G (p.Leu11Arg) single nucleotide variant Familial adenomatous polyposis 2 [RCV002551820]|Hereditary cancer-predisposing syndrome [RCV001019783]|not provided [RCV001766848] Chr1:45340223 [GRCh38]
Chr1:45805895 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.24G>C (p.Leu8=) single nucleotide variant Familial adenomatous polyposis 2 [RCV002068920]|Hereditary cancer-predisposing syndrome [RCV001015727] Chr1:45340231 [GRCh38]
Chr1:45805903 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.913-2A>G single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV001196657] Chr1:45343080 [GRCh38]
Chr1:45808752 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NM_025077.4(TOE1):c.539T>A (p.Leu180Gln) single nucleotide variant Inborn genetic diseases [RCV001266512] Chr1:45342430 [GRCh38]
Chr1:45808102 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NM_025077.4(TOE1):c.544C>T (p.Arg182Ter) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV002221842] Chr1:45342435 [GRCh38]
Chr1:45808107 [GRCh37]
Chr1:1p34.1		 pathogenic|likely pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
NM_025077.4(TOE1):c.745C>T (p.Arg249Trp) single nucleotide variant not provided [RCV001339854] Chr1:45342636 [GRCh38]
Chr1:45808308 [GRCh37]
Chr1:1p34.1		 conflicting interpretations of pathogenicity|uncertain significance
NC_000001.10:g.(?_45794968)_(45805936_?)dup duplication MYH-associated polyposis [RCV001313631] Chr1:45794968..45805936 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.12C>T (p.Leu4=) single nucleotide variant Familial adenomatous polyposis 2 [RCV001415482]|Hereditary cancer-predisposing syndrome [RCV002256767] Chr1:45340243 [GRCh38]
Chr1:45805915 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.4A>C (p.Thr2Pro) single nucleotide variant Familial adenomatous polyposis 2 [RCV001297434] Chr1:45340251 [GRCh38]
Chr1:45805923 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.2T>A (p.Met1Lys) single nucleotide variant Familial adenomatous polyposis 2 [RCV001307520] Chr1:45340253 [GRCh38]
Chr1:45805925 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1439G>A (p.Gly480Asp) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV001330030]|not provided [RCV001871807] Chr1:45343608 [GRCh38]
Chr1:45809280 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1240del (p.Glu413_Ile414insTer) deletion not provided [RCV001363489] Chr1:45343407 [GRCh38]
Chr1:45809079 [GRCh37]
Chr1:1p34.1		 uncertain significance
NC_000001.10:g.(?_45794978)_(45809328_?)dup duplication MYH-associated polyposis [RCV001299852] Chr1:45794978..45809328 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1159G>A (p.Asp387Asn) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV001330029]|not provided [RCV001863211] Chr1:45343328 [GRCh38]
Chr1:45809000 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.551G>T (p.Arg184Leu) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV001682617] Chr1:45342442 [GRCh38]
Chr1:45808114 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NM_025077.4(TOE1):c.196-42G>A single nucleotide variant not provided [RCV001714808] Chr1:45341261 [GRCh38]
Chr1:45806933 [GRCh37]
Chr1:1p34.1		 benign
NM_001128425.2(MUTYH):c.-3G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524468] Chr1:45340257 [GRCh38]
Chr1:45805929 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1469G>A (p.Ser490Asn) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV002251265] Chr1:45343638 [GRCh38]
Chr1:45809310 [GRCh37]
Chr1:1p34.1		 uncertain significance
GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3 copy number gain See cases [RCV002246181] Chr1:44346001..46332161 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1016G>A (p.Arg339Gln) single nucleotide variant not provided [RCV001754992] Chr1:45343185 [GRCh38]
Chr1:45808857 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1062del (p.Thr355fs) deletion Pontocerebellar hypoplasia type 7 [RCV002251067] Chr1:45343228 [GRCh38]
Chr1:45808900 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NM_025077.4(TOE1):c.1172del (p.Asn391fs) deletion See cases [RCV002253037] Chr1:45343340 [GRCh38]
Chr1:45809012 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NM_025077.4(TOE1):c.204T>G (p.Ser68Arg) single nucleotide variant not provided [RCV001772567] Chr1:45341311 [GRCh38]
Chr1:45806983 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1018C>T (p.Arg340Ter) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV001783889] Chr1:45343187 [GRCh38]
Chr1:45808859 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NM_025077.4(TOE1):c.343del (p.Ser115fs) deletion Pontocerebellar hypoplasia type 7 [RCV001785076] Chr1:45341957 [GRCh38]
Chr1:45807629 [GRCh37]
Chr1:1p34.1		 pathogenic
NM_025077.4(TOE1):c.492+5G>A single nucleotide variant Inborn genetic diseases [RCV002542027]|TOE1-related disorder [RCV003956400]|not provided [RCV001869693]|not specified [RCV001819444] Chr1:45342112 [GRCh38]
Chr1:45807784 [GRCh37]
Chr1:1p34.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025077.4(TOE1):c.106G>A (p.Val36Ile) single nucleotide variant not provided [RCV001885314]|not specified [RCV001822247] Chr1:45341126 [GRCh38]
Chr1:45806798 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36G>T (p.Trp12Cys) single nucleotide variant Familial adenomatous polyposis 2 [RCV001999437] Chr1:45340219 [GRCh38]
Chr1:45805891 [GRCh37]
Chr1:1p34.1		 uncertain significance
NC_000001.10:g.(?_45288087)_(45809328_?)dup duplication Familial adenomatous polyposis 2 [RCV001877385] Chr1:45288087..45809328 [GRCh37]
Chr1:1p34.1		 uncertain significance
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856) copy number loss not specified [RCV002053281] Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3		 likely pathogenic
NM_001128425.2(MUTYH):c.36G>C (p.Trp12Cys) single nucleotide variant Familial adenomatous polyposis 2 [RCV001878606] Chr1:45340219 [GRCh38]
Chr1:45805891 [GRCh37]
Chr1:1p34.1		 uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NM_025077.4(TOE1):c.940C>G (p.Gln314Glu) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV003136393]|not provided [RCV001971217] Chr1:45343109 [GRCh38]
Chr1:45808781 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.1A>C (p.Met1Leu) single nucleotide variant Familial adenomatous polyposis 2 [RCV001874964] Chr1:45340254 [GRCh38]
Chr1:45805926 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1104G>C (p.Lys368Asn) single nucleotide variant not provided [RCV001929013] Chr1:45343273 [GRCh38]
Chr1:45808945 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.776G>A (p.Arg259Gln) single nucleotide variant Inborn genetic diseases [RCV002555730]|TOE1-related disorder [RCV003913442]|not provided [RCV001910072] Chr1:45342866 [GRCh38]
Chr1:45808538 [GRCh37]
Chr1:1p34.1		 likely benign|uncertain significance
NM_025077.4(TOE1):c.325C>A (p.Pro109Thr) single nucleotide variant not provided [RCV001889277] Chr1:45341561 [GRCh38]
Chr1:45807233 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1379C>A (p.Pro460Gln) single nucleotide variant not provided [RCV001987417] Chr1:45343548 [GRCh38]
Chr1:45809220 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.5C>T (p.Thr2Ile) single nucleotide variant Familial adenomatous polyposis 2 [RCV002014531] Chr1:45340250 [GRCh38]
Chr1:45805922 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.20G>A (p.Arg7His) single nucleotide variant Familial adenomatous polyposis 2 [RCV002048722] Chr1:45340235 [GRCh38]
Chr1:45805907 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1481G>A (p.Arg494His) single nucleotide variant not provided [RCV002014187] Chr1:45343650 [GRCh38]
Chr1:45809322 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+5G>T single nucleotide variant Familial adenomatous polyposis 2 [RCV001928919] Chr1:45340214 [GRCh38]
Chr1:45805886 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1358A>T (p.Tyr453Phe) single nucleotide variant not provided [RCV001994005] Chr1:45343527 [GRCh38]
Chr1:45809199 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1160A>G (p.Asp387Gly) single nucleotide variant not provided [RCV001982540] Chr1:45343329 [GRCh38]
Chr1:45809001 [GRCh37]
Chr1:1p34.1		 uncertain significance
NC_000001.10:g.(?_45805881)_(45809328_?)del deletion Familial adenomatous polyposis 2 [RCV001962995] Chr1:45805881..45809328 [GRCh37]
Chr1:1p34.1		 pathogenic
NM_001128425.2(MUTYH):c.21C>T (p.Arg7=) single nucleotide variant Familial adenomatous polyposis 2 [RCV001942311] Chr1:45340234 [GRCh38]
Chr1:45805906 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.550C>T (p.Arg184Cys) single nucleotide variant Inborn genetic diseases [RCV002548186]|not provided [RCV002016638] Chr1:45342441 [GRCh38]
Chr1:45808113 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.655T>C (p.Cys219Arg) single nucleotide variant not provided [RCV001996403] Chr1:45342546 [GRCh38]
Chr1:45808218 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.77C>G (p.Ser26Cys) single nucleotide variant not provided [RCV002017855] Chr1:45341097 [GRCh38]
Chr1:45806769 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.554G>A (p.Arg185Gln) single nucleotide variant not provided [RCV001980842] Chr1:45342445 [GRCh38]
Chr1:45808117 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.533T>G (p.Leu178Arg) single nucleotide variant not provided [RCV001997190] Chr1:45342424 [GRCh38]
Chr1:45808096 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.880C>A (p.Pro294Thr) single nucleotide variant not provided [RCV001993785] Chr1:45342970 [GRCh38]
Chr1:45808642 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.261C>T (p.Ala87=) single nucleotide variant not provided [RCV001900541] Chr1:45341497 [GRCh38]
Chr1:45807169 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.866C>T (p.Pro289Leu) single nucleotide variant not provided [RCV001923475] Chr1:45342956 [GRCh38]
Chr1:45808628 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.993G>A (p.Ala331=) single nucleotide variant not provided [RCV002130136] Chr1:45343162 [GRCh38]
Chr1:45808834 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.53-16C>G single nucleotide variant not provided [RCV002185694] Chr1:45341057 [GRCh38]
Chr1:45806729 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.36+9del deletion Familial adenomatous polyposis 2 [RCV002146462] Chr1:45340210 [GRCh38]
Chr1:45805882 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.827G>C (p.Ser276Thr) single nucleotide variant Inborn genetic diseases [RCV004046321]|not provided [RCV002127348] Chr1:45342917 [GRCh38]
Chr1:45808589 [GRCh37]
Chr1:1p34.1		 benign|likely benign
NM_025077.4(TOE1):c.752+9A>G single nucleotide variant not provided [RCV002168284] Chr1:45342652 [GRCh38]
Chr1:45808324 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.255C>T (p.Tyr85=) single nucleotide variant not provided [RCV002146564] Chr1:45341491 [GRCh38]
Chr1:45807163 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.58G>C (p.Val20Leu) single nucleotide variant not provided [RCV002116025] Chr1:45341078 [GRCh38]
Chr1:45806750 [GRCh37]
Chr1:1p34.1		 benign
NM_025077.4(TOE1):c.354T>C (p.Ala118=) single nucleotide variant not provided [RCV002132973] Chr1:45341969 [GRCh38]
Chr1:45807641 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.753-17C>T single nucleotide variant not provided [RCV002133626] Chr1:45342826 [GRCh38]
Chr1:45808498 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.334-15T>G single nucleotide variant not provided [RCV002079157] Chr1:45341934 [GRCh38]
Chr1:45807606 [GRCh37]
Chr1:1p34.1		 benign
NM_025077.4(TOE1):c.1515C>T (p.Leu505=) single nucleotide variant not provided [RCV002167035] Chr1:45343684 [GRCh38]
Chr1:45809356 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.1022G>A (p.Arg341His) single nucleotide variant not provided [RCV002221127] Chr1:45343191 [GRCh38]
Chr1:45808863 [GRCh37]
Chr1:1p34.1		 benign
NM_025077.4(TOE1):c.438C>T (p.Phe146=) single nucleotide variant TOE1-related disorder [RCV003933346]|not provided [RCV002217317] Chr1:45342053 [GRCh38]
Chr1:45807725 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.615A>G (p.Ala205=) single nucleotide variant not provided [RCV002175234] Chr1:45342506 [GRCh38]
Chr1:45808178 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.1140C>T (p.Thr380=) single nucleotide variant not provided [RCV002143762] Chr1:45343309 [GRCh38]
Chr1:45808981 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.360G>A (p.Val120=) single nucleotide variant not provided [RCV002082492] Chr1:45341975 [GRCh38]
Chr1:45807647 [GRCh37]
Chr1:1p34.1		 likely benign
NC_000001.10:g.(?_44257753)_(46663493_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV003109481] Chr1:44257753..46663493 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.105C>T (p.Pro35=) single nucleotide variant not provided [RCV003121934] Chr1:45341125 [GRCh38]
Chr1:45806797 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.1063A>T (p.Thr355Ser) single nucleotide variant TOE1-related disorder [RCV003973763]|not provided [RCV003118833] Chr1:45343232 [GRCh38]
Chr1:45808904 [GRCh37]
Chr1:1p34.1		 likely benign|uncertain significance
NM_025077.4(TOE1):c.371C>T (p.Thr124Ile) single nucleotide variant Inborn genetic diseases [RCV003358138]|not provided [RCV003119051] Chr1:45341986 [GRCh38]
Chr1:45807658 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.911C>T (p.Ser304Leu) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV002244243] Chr1:45343001 [GRCh38]
Chr1:45808673 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.33G>A (p.Leu11=) single nucleotide variant Familial adenomatous polyposis 2 [RCV003505212]|Hereditary cancer-predisposing syndrome [RCV002452049] Chr1:45340222 [GRCh38]
Chr1:45805894 [GRCh37]
Chr1:1p34.1		 likely benign|uncertain significance
NM_001128425.2(MUTYH):c.36+2T>C single nucleotide variant Familial adenomatous polyposis 2 [RCV004005636]|Hereditary cancer-predisposing syndrome [RCV002455202] Chr1:45340217 [GRCh38]
Chr1:45805889 [GRCh37]
Chr1:1p34.1		 likely pathogenic|uncertain significance
NM_025077.4(TOE1):c.453G>T (p.Gln151His) single nucleotide variant not provided [RCV002297388] Chr1:45342068 [GRCh38]
Chr1:45807740 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.746G>A (p.Arg249Gln) single nucleotide variant Inborn genetic diseases [RCV003280436] Chr1:45342637 [GRCh38]
Chr1:45808309 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.3G>C (p.Met1Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375653] Chr1:45340252 [GRCh38]
Chr1:45805924 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.480G>C (p.Lys160Asn) single nucleotide variant not provided [RCV002305202] Chr1:45342095 [GRCh38]
Chr1:45807767 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.-5C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357981] Chr1:45340259 [GRCh38]
Chr1:45805931 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.237-10C>G single nucleotide variant not provided [RCV002839349] Chr1:45341463 [GRCh38]
Chr1:45807135 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.337G>A (p.Glu113Lys) single nucleotide variant not provided [RCV002731518] Chr1:45341952 [GRCh38]
Chr1:45807624 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1393T>C (p.Ser465Pro) single nucleotide variant Inborn genetic diseases [RCV002772528] Chr1:45343562 [GRCh38]
Chr1:45809234 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.195+12G>A single nucleotide variant not provided [RCV002636143] Chr1:45341227 [GRCh38]
Chr1:45806899 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.447C>T (p.Asn149=) single nucleotide variant TOE1-related disorder [RCV003943623]|not provided [RCV002948187] Chr1:45342062 [GRCh38]
Chr1:45807734 [GRCh37]
Chr1:1p34.1		 benign|likely benign
NM_025077.4(TOE1):c.1356C>T (p.Ala452=) single nucleotide variant not provided [RCV002616483] Chr1:45343525 [GRCh38]
Chr1:45809197 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.577C>T (p.Leu193Phe) single nucleotide variant Inborn genetic diseases [RCV002839782] Chr1:45342468 [GRCh38]
Chr1:45808140 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.73A>T (p.Thr25Ser) single nucleotide variant Inborn genetic diseases [RCV002954116]|not provided [RCV002970624] Chr1:45341093 [GRCh38]
Chr1:45806765 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1401C>T (p.Pro467=) single nucleotide variant not provided [RCV002994413] Chr1:45343570 [GRCh38]
Chr1:45809242 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.1054C>T (p.Leu352=) single nucleotide variant not provided [RCV002858352] Chr1:45343223 [GRCh38]
Chr1:45808895 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.382A>G (p.Met128Val) single nucleotide variant Inborn genetic diseases [RCV002773386] Chr1:45341997 [GRCh38]
Chr1:45807669 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.851G>A (p.Arg284His) single nucleotide variant not provided [RCV002755301] Chr1:45342941 [GRCh38]
Chr1:45808613 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1213_1215dup (p.Met405_Gly406insMet) duplication not provided [RCV002615946] Chr1:45343380..45343381 [GRCh38]
Chr1:45809052..45809053 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+16G>T single nucleotide variant Familial adenomatous polyposis 2 [RCV002885510] Chr1:45340203 [GRCh38]
Chr1:45805875 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.553C>T (p.Arg185Trp) single nucleotide variant not provided [RCV002571789] Chr1:45342444 [GRCh38]
Chr1:45808116 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.115G>T (p.Val39Leu) single nucleotide variant not provided [RCV002949671] Chr1:45341135 [GRCh38]
Chr1:45806807 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1405C>T (p.Leu469Phe) single nucleotide variant not provided [RCV002570097] Chr1:45343574 [GRCh38]
Chr1:45809246 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.344C>T (p.Ser115Phe) single nucleotide variant not provided [RCV002927618] Chr1:45341959 [GRCh38]
Chr1:45807631 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1264G>A (p.Val422Met) single nucleotide variant Inborn genetic diseases [RCV002694182] Chr1:45343433 [GRCh38]
Chr1:45809105 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.195+11G>A single nucleotide variant not provided [RCV002569734] Chr1:45341226 [GRCh38]
Chr1:45806898 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.333+12T>C single nucleotide variant not provided [RCV003000098] Chr1:45341581 [GRCh38]
Chr1:45807253 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.752+16A>T single nucleotide variant not provided [RCV002870865] Chr1:45342659 [GRCh38]
Chr1:45808331 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.1097C>T (p.Pro366Leu) single nucleotide variant Inborn genetic diseases [RCV002962757]|not provided [RCV002949514] Chr1:45343266 [GRCh38]
Chr1:45808938 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.27_28del (p.Ser9fs) deletion Familial adenomatous polyposis 2 [RCV002917663] Chr1:45340227..45340228 [GRCh38]
Chr1:45805899..45805900 [GRCh37]
Chr1:1p34.1		 pathogenic
NM_025077.4(TOE1):c.912G>A (p.Ser304=) single nucleotide variant not provided [RCV002574374] Chr1:45343002 [GRCh38]
Chr1:45808674 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.416A>T (p.Gln139Leu) single nucleotide variant Inborn genetic diseases [RCV002767993] Chr1:45342031 [GRCh38]
Chr1:45807703 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.242T>C (p.Ile81Thr) single nucleotide variant Inborn genetic diseases [RCV002937879]|Pontocerebellar hypoplasia type 7 [RCV004594658]|not provided [RCV002918963] Chr1:45341478 [GRCh38]
Chr1:45807150 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.234C>A (p.Asn78Lys) single nucleotide variant not provided [RCV003007248] Chr1:45341341 [GRCh38]
Chr1:45807013 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.787A>G (p.Ser263Gly) single nucleotide variant not provided [RCV002625860] Chr1:45342877 [GRCh38]
Chr1:45808549 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1189C>A (p.Gln397Lys) single nucleotide variant not provided [RCV003025049] Chr1:45343358 [GRCh38]
Chr1:45809030 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1347T>C (p.Tyr449=) single nucleotide variant TOE1-related disorder [RCV003963343]|not provided [RCV002765518] Chr1:45343516 [GRCh38]
Chr1:45809188 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.19G>A (p.Asp7Asn) single nucleotide variant Inborn genetic diseases [RCV002709095]|not specified [RCV004596570] Chr1:45340271 [GRCh38]
Chr1:45805943 [GRCh37]
Chr1:1p34.1		 likely benign|uncertain significance
NM_025077.4(TOE1):c.1010G>A (p.Arg337Gln) single nucleotide variant not provided [RCV002601471] Chr1:45343179 [GRCh38]
Chr1:45808851 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.132C>A (p.Phe44Leu) single nucleotide variant not provided [RCV003091982] Chr1:45341152 [GRCh38]
Chr1:45806824 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.912+12del deletion not provided [RCV002600959] Chr1:45343012 [GRCh38]
Chr1:45808684 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.23T>C (p.Leu8Pro) single nucleotide variant Familial adenomatous polyposis 2 [RCV003049314]|Hereditary cancer-predisposing syndrome [RCV003170923] Chr1:45340232 [GRCh38]
Chr1:45805904 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.32T>C (p.Leu11Pro) single nucleotide variant Familial adenomatous polyposis 2 [RCV003011060] Chr1:45340223 [GRCh38]
Chr1:45805895 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1368G>A (p.Val456=) single nucleotide variant not provided [RCV002597953] Chr1:45343537 [GRCh38]
Chr1:45809209 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.4G>A (p.Ala2Thr) single nucleotide variant not provided [RCV002812075] Chr1:45340256 [GRCh38]
Chr1:45805928 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+5G>C single nucleotide variant Familial adenomatous polyposis 2 [RCV002856660] Chr1:45340214 [GRCh38]
Chr1:45805886 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.992C>T (p.Ala331Val) single nucleotide variant Inborn genetic diseases [RCV002669352] Chr1:45343161 [GRCh38]
Chr1:45808833 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.494G>A (p.Gly165Asp) single nucleotide variant not provided [RCV002649322] Chr1:45342385 [GRCh38]
Chr1:45808057 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.837C>T (p.Asp279=) single nucleotide variant not provided [RCV003011102] Chr1:45342927 [GRCh38]
Chr1:45808599 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.168G>A (p.Lys56=) single nucleotide variant TOE1-related disorder [RCV003953957]|not provided [RCV002629420] Chr1:45341188 [GRCh38]
Chr1:45806860 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.1397G>A (p.Gly466Glu) single nucleotide variant Inborn genetic diseases [RCV002703000] Chr1:45343566 [GRCh38]
Chr1:45809238 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.753-19C>T single nucleotide variant not provided [RCV002600291] Chr1:45342824 [GRCh38]
Chr1:45808496 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.147A>G (p.Pro49=) single nucleotide variant not provided [RCV002675515] Chr1:45341167 [GRCh38]
Chr1:45806839 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.824C>A (p.Ser275Tyr) single nucleotide variant Inborn genetic diseases [RCV002919809] Chr1:45342914 [GRCh38]
Chr1:45808586 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.433G>A (p.Gly145Ser) single nucleotide variant Inborn genetic diseases [RCV002831474] Chr1:45342048 [GRCh38]
Chr1:45807720 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+4C>A single nucleotide variant Familial adenomatous polyposis 2 [RCV002715540] Chr1:45340215 [GRCh38]
Chr1:45805887 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.668del (p.Pro223fs) deletion not provided [RCV002770936] Chr1:45342557 [GRCh38]
Chr1:45808229 [GRCh37]
Chr1:1p34.1		 pathogenic|uncertain significance
NM_025077.4(TOE1):c.1058C>T (p.Pro353Leu) single nucleotide variant not provided [RCV002654560] Chr1:45343227 [GRCh38]
Chr1:45808899 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.868G>A (p.Ala290Thr) single nucleotide variant Inborn genetic diseases [RCV003349048]|not provided [RCV002603773] Chr1:45342958 [GRCh38]
Chr1:45808630 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.878G>A (p.Arg293His) single nucleotide variant not provided [RCV002583285] Chr1:45342968 [GRCh38]
Chr1:45808640 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.236+7A>G single nucleotide variant not provided [RCV003071643] Chr1:45341350 [GRCh38]
Chr1:45807022 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.718G>A (p.Val240Met) single nucleotide variant Inborn genetic diseases [RCV003072180]|not provided [RCV003072179] Chr1:45342609 [GRCh38]
Chr1:45808281 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+16G>A single nucleotide variant Familial adenomatous polyposis 2 [RCV002604175] Chr1:45340203 [GRCh38]
Chr1:45805875 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.297C>G (p.Ser99=) single nucleotide variant not provided [RCV002608218] Chr1:45341533 [GRCh38]
Chr1:45807205 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.1315C>T (p.Arg439Trp) single nucleotide variant not provided [RCV002589169] Chr1:45343484 [GRCh38]
Chr1:45809156 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.20A>G (p.Asp7Gly) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV003141096] Chr1:45340272 [GRCh38]
Chr1:45805944 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.581T>C (p.Ile194Thr) single nucleotide variant Inborn genetic diseases [RCV003181078] Chr1:45342472 [GRCh38]
Chr1:45808144 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.850C>T (p.Arg284Cys) single nucleotide variant Inborn genetic diseases [RCV003186330] Chr1:45342940 [GRCh38]
Chr1:45808612 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.826A>G (p.Ser276Gly) single nucleotide variant Inborn genetic diseases [RCV003358874] Chr1:45342916 [GRCh38]
Chr1:45808588 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1157C>A (p.Ala386Asp) single nucleotide variant Inborn genetic diseases [RCV003371734] Chr1:45343326 [GRCh38]
Chr1:45808998 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.509G>T (p.Ser170Ile) single nucleotide variant Inborn genetic diseases [RCV003378340] Chr1:45342400 [GRCh38]
Chr1:45808072 [GRCh37]
Chr1:1p34.1		 uncertain significance
GRCh37/hg19 1p34.1(chr1:45665404-45955823)x3 copy number gain not provided [RCV003484012] Chr1:45665404..45955823 [GRCh37]
Chr1:1p34.1		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
NM_025077.4(TOE1):c.908_910del (p.Phe303del) deletion TOE1-related disorder [RCV003402521] Chr1:45342996..45342998 [GRCh38]
Chr1:45808668..45808670 [GRCh37]
Chr1:1p34.1		 likely pathogenic|uncertain significance
NM_001128425.2(MUTYH):c.-6G>T single nucleotide variant not provided [RCV003442554] Chr1:45340260 [GRCh38]
Chr1:45805932 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+16G>C single nucleotide variant Familial adenomatous polyposis 2 [RCV003614510] Chr1:45340203 [GRCh38]
Chr1:45805875 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.36+13T>G single nucleotide variant Familial adenomatous polyposis 2 [RCV003614597] Chr1:45340206 [GRCh38]
Chr1:45805878 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.36+18T>A single nucleotide variant Familial adenomatous polyposis 2 [RCV003504952] Chr1:45340201 [GRCh38]
Chr1:45805873 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.36+9G>C single nucleotide variant Familial adenomatous polyposis 2 [RCV003614389] Chr1:45340210 [GRCh38]
Chr1:45805882 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.36+13T>C single nucleotide variant Familial adenomatous polyposis 2 [RCV003614792] Chr1:45340206 [GRCh38]
Chr1:45805878 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.14_36+4dup duplication Familial adenomatous polyposis 2 [RCV003614950] Chr1:45340214..45340215 [GRCh38]
Chr1:45805886..45805887 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.1029A>G (p.Glu343=) single nucleotide variant not provided [RCV003545226] Chr1:45343198 [GRCh38]
Chr1:45808870 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.913-12T>A single nucleotide variant not provided [RCV003829359] Chr1:45343070 [GRCh38]
Chr1:45808742 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.36+14G>C single nucleotide variant Familial adenomatous polyposis 2 [RCV003614354] Chr1:45340205 [GRCh38]
Chr1:45805877 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.30T>C (p.Arg10=) single nucleotide variant Familial adenomatous polyposis 2 [RCV003614558] Chr1:45340225 [GRCh38]
Chr1:45805897 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.27T>A (p.Ser9Arg) single nucleotide variant Familial adenomatous polyposis 2 [RCV003614594] Chr1:45340228 [GRCh38]
Chr1:45805900 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.22C>G (p.Leu8Val) single nucleotide variant Familial adenomatous polyposis 2 [RCV003881978] Chr1:45340233 [GRCh38]
Chr1:45805905 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.-7G>A single nucleotide variant Familial adenomatous polyposis 2 [RCV004011501]|Hereditary cancer-predisposing syndrome [RCV003585669] Chr1:45340261 [GRCh38]
Chr1:45805933 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.36+6C>T single nucleotide variant Familial adenomatous polyposis 2 [RCV003505455] Chr1:45340213 [GRCh38]
Chr1:45805885 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.913-17C>G single nucleotide variant not provided [RCV003665050] Chr1:45343065 [GRCh38]
Chr1:45808737 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.195+17A>G single nucleotide variant not provided [RCV003835986] Chr1:45341232 [GRCh38]
Chr1:45806904 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.534G>A (p.Leu178=) single nucleotide variant not provided [RCV003850240] Chr1:45342425 [GRCh38]
Chr1:45808097 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.1158C>T (p.Ala386=) single nucleotide variant not provided [RCV003726554] Chr1:45343327 [GRCh38]
Chr1:45808999 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.795C>T (p.His265=) single nucleotide variant not provided [RCV003838700] Chr1:45342885 [GRCh38]
Chr1:45808557 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.927C>T (p.Cys309=) single nucleotide variant not provided [RCV003724977] Chr1:45343096 [GRCh38]
Chr1:45808768 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.236+20T>G single nucleotide variant not provided [RCV003723357] Chr1:45341363 [GRCh38]
Chr1:45807035 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.153C>T (p.Leu51=) single nucleotide variant not provided [RCV003548074] Chr1:45341173 [GRCh38]
Chr1:45806845 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.1062G>A (p.Gly354=) single nucleotide variant not provided [RCV003559175] Chr1:45343231 [GRCh38]
Chr1:45808903 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.1035G>A (p.Arg345=) single nucleotide variant not provided [RCV003728640] Chr1:45343204 [GRCh38]
Chr1:45808876 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.805G>T (p.Glu269Ter) single nucleotide variant not provided [RCV003857513] Chr1:45342895 [GRCh38]
Chr1:45808567 [GRCh37]
Chr1:1p34.1		 pathogenic
NM_025077.4(TOE1):c.765T>C (p.Asn255=) single nucleotide variant not provided [RCV003868344] Chr1:45342855 [GRCh38]
Chr1:45808527 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.199C>T (p.Leu67=) single nucleotide variant not provided [RCV003728906] Chr1:45341306 [GRCh38]
Chr1:45806978 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.334-11C>T single nucleotide variant not provided [RCV003847799] Chr1:45341938 [GRCh38]
Chr1:45807610 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.974T>C (p.Ile325Thr) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV003991896] Chr1:45343143 [GRCh38]
Chr1:45808815 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.334-5_334-3del deletion TOE1-related disorder [RCV003954745] Chr1:45341944..45341946 [GRCh38]
Chr1:45807616..45807618 [GRCh37]
Chr1:1p34.1		 likely benign
NM_001128425.2(MUTYH):c.-7GGC[1] microsatellite Familial adenomatous polyposis 2 [RCV004012001] Chr1:45340256..45340258 [GRCh38]
Chr1:45805928..45805930 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.20G>C (p.Arg7Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004523665] Chr1:45340235 [GRCh38]
Chr1:45805907 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.-3G>C single nucleotide variant Familial adenomatous polyposis 2 [RCV004012082] Chr1:45340257 [GRCh38]
Chr1:45805929 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.36+1G>T single nucleotide variant Familial adenomatous polyposis 2 [RCV004015479] Chr1:45340218 [GRCh38]
Chr1:45805890 [GRCh37]
Chr1:1p34.1		 likely pathogenic
NM_025077.4(TOE1):c.1421A>C (p.Asn474Thr) single nucleotide variant Inborn genetic diseases [RCV004475832] Chr1:45343590 [GRCh38]
Chr1:45809262 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.524C>T (p.Thr175Ile) single nucleotide variant Inborn genetic diseases [RCV004475834] Chr1:45342415 [GRCh38]
Chr1:45808087 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.-10G>A single nucleotide variant Familial adenomatous polyposis 2 [RCV004016365] Chr1:45340264 [GRCh38]
Chr1:45805936 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.916T>C (p.Tyr306His) single nucleotide variant Inborn genetic diseases [RCV004475836] Chr1:45343085 [GRCh38]
Chr1:45808757 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.977A>C (p.Asp326Ala) single nucleotide variant Inborn genetic diseases [RCV004475837] Chr1:45343146 [GRCh38]
Chr1:45808818 [GRCh37]
Chr1:1p34.1		 uncertain significance
NC_000001.10:g.(?_45794913)_(45806113_?)dup duplication not specified [RCV004690875] Chr1:45794913..45806113 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.397A>G (p.Ile133Val) single nucleotide variant Inborn genetic diseases [RCV004682526] Chr1:45342012 [GRCh38]
Chr1:45807684 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.-5del deletion Hereditary cancer-predisposing syndrome [RCV004647010] Chr1:45340259 [GRCh38]
Chr1:45805931 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_001128425.2(MUTYH):c.24G>A (p.Leu8=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004647009] Chr1:45340231 [GRCh38]
Chr1:45805903 [GRCh37]
Chr1:1p34.1		 likely benign
NM_025077.4(TOE1):c.886C>G (p.Pro296Ala) single nucleotide variant Inborn genetic diseases [RCV004682523] Chr1:45342976 [GRCh38]
Chr1:45808648 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.212G>A (p.Gly71Glu) single nucleotide variant Inborn genetic diseases [RCV004682524] Chr1:45341319 [GRCh38]
Chr1:45806991 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_025077.4(TOE1):c.581T>A (p.Ile194Lys) single nucleotide variant Pontocerebellar hypoplasia type 7 [RCV004771637] Chr1:45342472 [GRCh38]
Chr1:45808144 [GRCh37]
Chr1:1p34.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1391
Count of miRNA genes:725
Interacting mature miRNAs:836
Transcripts:ENST00000372090, ENST00000460057, ENST00000471337, ENST00000477731, ENST00000495703, ENST00000539779
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2314561GLUCO47_HGlucose level QTL 47 (human)1.1Glucose level14477336070773360Human

Markers in Region
SGC31961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37145,809,575 - 45,809,701UniSTSGRCh37
Build 36145,582,162 - 45,582,288RGDNCBI36
Celera144,092,951 - 44,093,077RGD
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p33UniSTS
Whitehead-RH Map1169.6UniSTS
RH68652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37145,809,668 - 45,809,807UniSTSGRCh37
Build 36145,582,255 - 45,582,394RGDNCBI36
Celera144,093,044 - 44,093,183RGD
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p33UniSTS
HuRef143,921,363 - 43,921,502UniSTS
GeneMap99-GB4 RH Map1130.39UniSTS
NCBI RH Map1294.0UniSTS
RH18295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37145,809,342 - 45,809,543UniSTSGRCh37
Build 36145,581,929 - 45,582,130RGDNCBI36
Celera144,092,718 - 44,092,919RGD
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p33UniSTS
HuRef143,920,889 - 43,921,090UniSTS
GeneMap99-GB4 RH Map1130.29UniSTS
NCBI RH Map1294.0UniSTS
TESK2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37145,809,714 - 45,809,953UniSTSGRCh37
Build 36145,582,301 - 45,582,540RGDNCBI36
Celera144,093,090 - 44,093,329RGD
HuRef143,921,409 - 43,921,648UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2251 4972 1726 2351 6 624 1951 465 2269 7302 6469 53 3733 1 852 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001736951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_246230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_426587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_946532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK024011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY169960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI495405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA887065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000372090   ⟹   ENSP00000361162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl145,340,170 - 45,343,973 (+)Ensembl
Ensembl Acc Id: ENST00000460057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl145,341,296 - 45,342,859 (+)Ensembl
Ensembl Acc Id: ENST00000471337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl145,340,175 - 45,342,978 (+)Ensembl
Ensembl Acc Id: ENST00000477731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl145,340,052 - 45,342,761 (+)Ensembl
Ensembl Acc Id: ENST00000495703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl145,340,221 - 45,343,964 (+)Ensembl
RefSeq Acc Id: NM_025077   ⟹   NP_079353
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38145,340,170 - 45,343,973 (+)NCBI
GRCh37145,805,342 - 45,809,650 (+)RGD
GRCh37145,805,342 - 45,809,650 (+)NCBI
Build 36145,577,929 - 45,582,237 (+)NCBI Archive
Celera144,088,718 - 44,093,026 (+)RGD
HuRef143,916,889 - 43,921,125 (+)ENTREZGENE
CHM1_1145,922,145 - 45,926,453 (+)NCBI
T2T-CHM13v2.0145,211,727 - 45,215,530 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005270412   ⟹   XP_005270469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38145,340,170 - 45,343,973 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005270413   ⟹   XP_005270470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38145,340,170 - 45,343,973 (+)NCBI
GRCh37145,805,342 - 45,809,650 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047443500   ⟹   XP_047299456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38145,340,170 - 45,342,997 (+)NCBI
RefSeq Acc Id: XM_047443504   ⟹   XP_047299460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38145,340,170 - 45,342,965 (+)NCBI
RefSeq Acc Id: XM_047443512   ⟹   XP_047299468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38145,340,170 - 45,343,002 (+)NCBI
RefSeq Acc Id: XM_054334064   ⟹   XP_054190039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0145,211,720 - 45,215,530 (+)NCBI
RefSeq Acc Id: XM_054334065   ⟹   XP_054190040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0145,212,014 - 45,215,530 (+)NCBI
RefSeq Acc Id: XM_054334066   ⟹   XP_054190041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0145,211,798 - 45,214,554 (+)NCBI
RefSeq Acc Id: XM_054334067   ⟹   XP_054190042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0145,211,798 - 45,214,522 (+)NCBI
RefSeq Acc Id: XM_054334068   ⟹   XP_054190043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0145,211,727 - 45,214,559 (+)NCBI
RefSeq Acc Id: NP_079353   ⟸   NM_025077
- UniProtKB: Q96GM8 (UniProtKB/Swiss-Prot),   Q8IWN5 (UniProtKB/Swiss-Prot),   Q6IA35 (UniProtKB/Swiss-Prot),   B4DEM6 (UniProtKB/Swiss-Prot),   Q9H846 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005270469   ⟸   XM_005270412
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005270470   ⟸   XM_005270413
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000361162   ⟸   ENST00000372090
RefSeq Acc Id: XP_047299468   ⟸   XM_047443512
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047299456   ⟸   XM_047443500
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047299460   ⟸   XM_047443504
- Peptide Label: isoform X4
- UniProtKB: B4DP23 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054190039   ⟸   XM_054334064
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054190043   ⟸   XM_054334068
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054190041   ⟸   XM_054334066
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054190042   ⟸   XM_054334067
- Peptide Label: isoform X4
- UniProtKB: B4DP23 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054190040   ⟸   XM_054334065
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96GM8-F1-model_v2 AlphaFold Q96GM8 1-510 view protein structure

Promoters
RGD ID:6855340
Promoter ID:EPDNEW_H835
Type:initiation region
Name:TOE1_1
Description:target of EGR1, member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H838  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38145,339,722 - 45,339,782EPDNEW
RGD ID:6855346
Promoter ID:EPDNEW_H838
Type:initiation region
Name:TOE1_2
Description:target of EGR1, member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H835  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38145,340,221 - 45,340,281EPDNEW
RGD ID:6787045
Promoter ID:HG_KWN:2484
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_025077,   OTTHUMT00000020519,   OTTHUMT00000020520,   UC001CNQ.2,   UC001CNR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36145,577,231 - 45,578,327 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15954 AgrOrtholog
COSMIC TOE1 COSMIC
Ensembl Genes ENSG00000132773 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000372090 ENTREZGENE
  ENST00000372090.6 UniProtKB/Swiss-Prot
  ENST00000471337 ENTREZGENE
  ENST00000495703 ENTREZGENE
Gene3D-CATH 3.30.420.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.3220 UniProtKB/Swiss-Prot
GTEx ENSG00000132773 GTEx
HGNC ID HGNC:15954 ENTREZGENE
Human Proteome Map TOE1 Human Proteome Map
InterPro CAF1_poly(A)_ribonucleases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase_CAF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNaseH-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNaseH_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_CCCH UniProtKB/Swiss-Prot
KEGG Report hsa:114034 UniProtKB/Swiss-Prot
NCBI Gene 114034 ENTREZGENE
OMIM 613931 OMIM
PANTHER POLY A -SPECIFIC RIBONUCLEASE/TARGET OF EGR1, MEMBER 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TARGET OF EGR1 PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CAF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-CCCH UniProtKB/Swiss-Prot
PharmGKB PA38064 PharmGKB
PROSITE ZF_C3H1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53098 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DEM6 ENTREZGENE
  B4DP23 ENTREZGENE, UniProtKB/TrEMBL
  Q6IA35 ENTREZGENE
  Q8IWN5 ENTREZGENE
  Q96GM8 ENTREZGENE
  Q9H846 ENTREZGENE
  TOE1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DEM6 UniProtKB/Swiss-Prot
  Q6IA35 UniProtKB/Swiss-Prot
  Q8IWN5 UniProtKB/Swiss-Prot
  Q9H846 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-10-04 TOE1  target of EGR1, exonuclease    target of EGR1, member 1 (nuclear)  Symbol and/or name change 5135510 APPROVED