NGLY1 (N-glycanase 1) - Rat Genome Database

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Gene: NGLY1 (N-glycanase 1) Homo sapiens
Analyze
Symbol: NGLY1
Name: N-glycanase 1
RGD ID: 1318334
HGNC Page HGNC:17646
Description: Enables peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity. Involved in glycoprotein catabolic process. Located in cytoplasm. Implicated in NGLY1-deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDDG; CDG1V; FLJ11005; FLJ12409; hPNGase; peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase; peptide:N-glycanase; PNG-1; PNG1; PNGase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38325,718,944 - 25,790,039 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl325,718,944 - 25,790,039 (-)EnsemblGRCh38hg38GRCh38
GRCh37325,760,435 - 25,831,530 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36325,735,779 - 25,799,926 (-)NCBINCBI36Build 36hg18NCBI36
Build 34325,735,778 - 25,799,926NCBI
Celera325,697,316 - 25,768,403 (-)NCBICelera
Cytogenetic Map3p24.2NCBI
HuRef325,705,518 - 25,776,520 (-)NCBIHuRef
CHM1_1325,710,469 - 25,781,508 (-)NCBICHM1_1
T2T-CHM13v2.0325,721,799 - 25,792,805 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IBA,IEA,TAS)
nucleus  (IBA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
3-Methylglutaconic aciduria  (IAGP)
Abnormal brain morphology  (IAGP)
Abnormal myelination  (IAGP)
Abnormality of movement  (IAGP)
Absent speech  (IAGP)
Achilles tendon contracture  (IAGP)
Acromesomelia  (IAGP)
Action tremor  (IAGP)
Alacrima  (IAGP)
Anhidrosis  (IAGP)
Anteverted nares  (IAGP)
Astasia  (IAGP)
Athetosis  (IAGP)
Atonic seizure  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axonal loss  (IAGP)
Bilateral ptosis  (IAGP)
Brachycephaly  (IAGP)
Central sleep apnea  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Chondroitin sulfate excretion in urine  (IAGP)
Chorea  (IAGP)
Chronic constipation  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Congenital hip dislocation  (IAGP)
Corneal neovascularization  (IAGP)
Corneal opacity  (IAGP)
Corneal scarring  (IAGP)
Corneal ulceration  (IAGP)
Coxa valga  (IAGP)
Decreased body weight  (IAGP)
Decreased CSF 5-hydroxyindolacetic acid concentration  (IAGP)
Decreased CSF albumin concentration  (IAGP)
Decreased CSF biopterin level  (IAGP)
Decreased CSF homovanillic acid concentration  (IAGP)
Decreased CSF protein concentration  (IAGP)
Decreased CSF/serum albumin ratio  (IAGP)
Decreased lacrimation  (IAGP)
Decreased LDL cholesterol concentration  (IAGP)
Decreased resting energy expenditure  (IAGP)
Decreased sensory nerve conduction velocity  (IAGP)
Delayed ability to sit  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed myelination  (IAGP)
Delayed skeletal maturation  (IAGP)
Developmental regression  (IAGP)
Dilation of Virchow-Robin spaces  (IAGP)
Dysmetria  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
Elevated brain choline level by MRS  (IAGP)
Elevated circulating alpha-fetoprotein concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Exotropia  (IAGP)
Facial hypotonia  (IAGP)
Failure to thrive  (IAGP)
Fatigable weakness of speech muscles  (IAGP)
Fever  (IAGP)
Focal emotional seizure with laughing  (IAGP)
Focal tonic seizure  (IAGP)
Generalized aminoaciduria  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Gliosis  (IAGP)
Global developmental delay  (IAGP)
Heparan sulfate excretion in urine  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatomegaly  (IAGP)
High myoinositol in brain by MRS  (IAGP)
Hip dysplasia  (IAGP)
Hyperalaninemia  (IAGP)
Hyperhidrosis  (IAGP)
Hyperkinetic movements  (IAGP)
Hypertelorism  (IAGP)
Hypofibrinogenemia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Hypotriglyceridemia  (IAGP)
Impaired oral bolus formation  (IAGP)
Impaired oropharyngeal swallow response  (IAGP)
Inability to walk  (IAGP)
Increased circulating lactate concentration  (IAGP)
Increased susceptibility to fractures  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Intrinsic hand muscle atrophy  (IAGP)
Involuntary movements  (IAGP)
Joint hypermobility  (IAGP)
Keratan sulfate excretion in urine  (IAGP)
Lagophthalmos  (IAGP)
Limb joint contracture  (IAGP)
Lingual dystonia  (IAGP)
Low-set ears  (IAGP)
Microcephaly  (IAGP)
Micronodular cirrhosis  (IAGP)
Microvesicular hepatic steatosis  (IAGP)
Midface retrusion  (IAGP)
Motor regression  (IAGP)
Myoclonic seizure  (IAGP)
Myoclonus  (IAGP)
Narrow face  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Neurodevelopmental delay  (IAGP)
Nodular regenerative hyperplasia of liver  (IAGP)
Obstructive sleep apnea  (IAGP)
Oculomotor apraxia  (IAGP)
Open mouth  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Osteoporosis  (IAGP)
Pain  (IAGP)
Pain insensitivity  (IAGP)
Peripheral neuropathy  (IAGP)
Pigmentary retinopathy  (IAGP)
Pointed chin  (IAGP)
Polyneuropathy  (IAGP)
Poor head control  (IAGP)
Poor speech  (IAGP)
Prolonged prothrombin time  (IAGP)
Ptosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced brain glutamine level by MRS  (IAGP)
Reduced brain N-acetyl aspartate level by MRS  (IAGP)
Reduced factor XI activity  (IAGP)
Reduced protein C activity  (IAGP)
Respiratory distress  (IAGP)
Restlessness  (IAGP)
Sclerosis of finger phalanx  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Short foot  (IAGP)
Shoulder dislocation  (IAGP)
Single transverse palmar crease  (IAGP)
Small for gestational age  (IAGP)
Small forehead  (IAGP)
Small hand  (IAGP)
Splenomegaly  (IAGP)
Staring gaze  (IAGP)
Strabismus  (IAGP)
Suck reflex  (IAGP)
Sunken cheeks  (IAGP)
Tarsal sclerosis  (IAGP)
Ventriculomegaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems. Asahina M, etal., Hum Mol Genet. 2020 Jun 27;29(10):1635-1647. doi: 10.1093/hmg/ddaa059.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10831608   PMID:12477932   PMID:14702039   PMID:14749736   PMID:15358861   PMID:15362974   PMID:15489334   PMID:15610852   PMID:16055502   PMID:16807242   PMID:17015730   PMID:18187620  
PMID:20668520   PMID:21832049   PMID:21873635   PMID:22119785   PMID:22190034   PMID:22268729   PMID:22575648   PMID:23508102   PMID:23602568   PMID:24651605   PMID:24797263   PMID:25220016  
PMID:25398991   PMID:25416956   PMID:25754235   PMID:25900930   PMID:26186194   PMID:26344197   PMID:27388694   PMID:27432908   PMID:28443643   PMID:28514442   PMID:28675297   PMID:28750948  
PMID:28826503   PMID:29419975   PMID:29540532   PMID:30455355   PMID:31091453   PMID:31515488   PMID:31875565   PMID:31957011   PMID:31965062   PMID:32265286   PMID:32296183   PMID:32353859  
PMID:32687490   PMID:32938586   PMID:33060197   PMID:33277362   PMID:33320481   PMID:33497766   PMID:33660365   PMID:33961781   PMID:34079125   PMID:34709727   PMID:34969094   PMID:35271311  
PMID:35271393   PMID:35322011   PMID:35559673   PMID:35565658   PMID:35696571   PMID:36102038   PMID:36209585   PMID:36528660   PMID:36610398   PMID:37499664   PMID:38039131  


Genomics

Comparative Map Data
NGLY1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38325,718,944 - 25,790,039 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl325,718,944 - 25,790,039 (-)EnsemblGRCh38hg38GRCh38
GRCh37325,760,435 - 25,831,530 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36325,735,779 - 25,799,926 (-)NCBINCBI36Build 36hg18NCBI36
Build 34325,735,778 - 25,799,926NCBI
Celera325,697,316 - 25,768,403 (-)NCBICelera
Cytogenetic Map3p24.2NCBI
HuRef325,705,518 - 25,776,520 (-)NCBIHuRef
CHM1_1325,710,469 - 25,781,508 (-)NCBICHM1_1
T2T-CHM13v2.0325,721,799 - 25,792,805 (-)NCBIT2T-CHM13v2.0
Ngly1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39146,157,837 - 6,220,449 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl146,157,837 - 6,220,483 (-)EnsemblGRCm39 Ensembl
GRCm381416,249,314 - 16,311,926 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1416,249,280 - 16,311,926 (+)EnsemblGRCm38mm10GRCm38
MGSCv371417,081,828 - 17,144,440 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361415,042,581 - 15,105,193 (+)NCBIMGSCv36mm8
Celera1411,944,272 - 12,005,168 (+)NCBICelera
Cytogenetic Map14A1NCBI
cM Map147.08NCBI
Ngly1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81511,584,475 - 11,640,977 (-)NCBIGRCr8
mRatBN7.2159,153,738 - 9,210,228 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl159,153,738 - 9,204,630 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1511,296,510 - 11,347,084 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01512,209,299 - 12,259,873 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01510,509,774 - 10,560,348 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01510,405,453 - 10,455,973 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1510,405,164 - 10,455,956 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01514,450,836 - 14,501,356 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41510,704,196 - 10,750,564 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11510,715,806 - 10,723,084 (-)NCBI
Celera159,192,318 - 9,243,191 (-)NCBICelera
Cytogenetic Map15p16NCBI
Ngly1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543017,564,319 - 17,645,564 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543017,564,319 - 17,645,564 (-)NCBIChiLan1.0ChiLan1.0
NGLY1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2225,678,406 - 25,742,623 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1325,683,169 - 25,747,391 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0325,618,768 - 25,683,293 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1325,950,189 - 26,014,998 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl325,950,701 - 26,021,504 (-)Ensemblpanpan1.1panPan2
NGLY1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12318,044,479 - 18,101,937 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2318,039,456 - 18,099,660 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2318,042,146 - 18,099,607 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02318,347,625 - 18,405,157 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2318,342,554 - 18,405,154 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12318,166,197 - 18,223,888 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02318,269,312 - 18,326,783 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02318,383,003 - 18,440,512 (+)NCBIUU_Cfam_GSD_1.0
Ngly1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118184,105,190 - 184,155,991 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647317,239,966 - 17,294,791 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647317,243,763 - 17,294,609 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NGLY1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1312,616,567 - 12,685,823 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11312,616,564 - 12,683,637 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21314,229,512 - 14,291,711 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NGLY1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11570,381,992 - 70,449,373 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1570,382,004 - 70,449,341 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604143,521,267 - 43,588,968 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ngly1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247883,626,893 - 3,707,680 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247883,631,142 - 3,707,725 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NGLY1
703 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV000543687]|not provided [RCV001008027] Chr3:25739587 [GRCh38]
Chr3:25781078 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic
NM_018297.4(NGLY1):c.1918C>T (p.His640Tyr) single nucleotide variant Congenital disorder of deglycosylation [RCV000547190]|not provided [RCV001568550] Chr3:25719507 [GRCh38]
Chr3:25760998 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.1808A>G (p.Tyr603Cys) single nucleotide variant Congenital disorder of deglycosylation [RCV000544513] Chr3:25719617 [GRCh38]
Chr3:25761108 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.492+4A>T single nucleotide variant Congenital disorder of deglycosylation [RCV000528079]|not provided [RCV003431105] Chr3:25764062 [GRCh38]
Chr3:25805553 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.431G>A (p.Gly144Glu) single nucleotide variant Congenital disorder of deglycosylation [RCV000547394] Chr3:25764127 [GRCh38]
Chr3:25805618 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.123C>T (p.Asn41=) single nucleotide variant Congenital disorder of deglycosylation [RCV000525469]|not provided [RCV001764610] Chr3:25783268 [GRCh38]
Chr3:25824759 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.636G>T (p.Ser212=) single nucleotide variant Congenital disorder of deglycosylation [RCV000554682] Chr3:25751120 [GRCh38]
Chr3:25792611 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.872G>A (p.Arg291Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV000532397] Chr3:25739586 [GRCh38]
Chr3:25781077 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1945A>T (p.Ile649Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV001888966] Chr3:25719480 [GRCh38]
Chr3:25760971 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.717A>C (p.Glu239Asp) single nucleotide variant Congenital disorder of deglycosylation [RCV000542289]|Inborn genetic diseases [RCV002530238]|not provided [RCV001556237] Chr3:25739741 [GRCh38]
Chr3:25781232 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1889C>A (p.Thr630Asn) single nucleotide variant Congenital disorder of deglycosylation [RCV000545860] Chr3:25719536 [GRCh38]
Chr3:25761027 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.132-8T>C single nucleotide variant Congenital disorder of deglycosylation [RCV000550679] Chr3:25778696 [GRCh38]
Chr3:25820187 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.552C>T (p.Val184=) single nucleotide variant Congenital disorder of deglycosylation [RCV000548763] Chr3:25751204 [GRCh38]
Chr3:25792695 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.39del (p.Ser14fs) deletion Congenital disorder of deglycosylation [RCV003741212]|Inborn genetic diseases [RCV000624164] Chr3:25783352 [GRCh38]
Chr3:25824843 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1579A>G (p.Ile527Val) single nucleotide variant Congenital disorder of deglycosylation [RCV000527020]|not provided [RCV001591280] Chr3:25729165 [GRCh38]
Chr3:25770656 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.646A>G (p.Lys216Glu) single nucleotide variant Congenital disorder of deglycosylation [RCV000525147] Chr3:25751110 [GRCh38]
Chr3:25792601 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.591T>C (p.Cys197=) single nucleotide variant Congenital disorder of deglycosylation [RCV001506253] Chr3:25751165 [GRCh38]
Chr3:25792656 [GRCh37]
Chr3:3p24.2
likely benign
NM_001145294.1(NGLY1):c.121-5966A>G single nucleotide variant Lung cancer [RCV000093498] Chr3:25770277 [GRCh38]
Chr3:25811768 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1891del (p.Gln631fs) deletion Congenital disorder of deglycosylation 1 [RCV003147331]|Congenital disorder of deglycosylation [RCV000043662]|not provided [RCV000255027] Chr3:25719534 [GRCh38]
Chr3:25761025 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) single nucleotide variant Congenital disorder of deglycosylation 1 [RCV002477142]|Congenital disorder of deglycosylation [RCV000043663]|not provided [RCV000309063] Chr3:25733931 [GRCh38]
Chr3:25775422 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic
NM_018297.4(NGLY1):c.1370dup (p.Arg458fs) duplication Congenital disorder of deglycosylation [RCV000114362]|not provided [RCV001008537] Chr3:25732373..25732374 [GRCh38]
Chr3:25773864..25773865 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1202GAA[1] (p.Arg402del) microsatellite Congenital disorder of deglycosylation [RCV000114363] Chr3:25733925..25733927 [GRCh38]
Chr3:25775416..25775418 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV000114364]|not provided [RCV000578992] Chr3:25720179 [GRCh38]
Chr3:25761670 [GRCh37]
Chr3:3p24.2
pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2
pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1
pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2
pathogenic
NM_018297.4(NGLY1):c.132-14T>C single nucleotide variant Congenital disorder of deglycosylation [RCV001511609]|not specified [RCV000175901] Chr3:25778702 [GRCh38]
Chr3:25820193 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.1260+7T>G single nucleotide variant Congenital disorder of deglycosylation [RCV001519904]|not specified [RCV000180348] Chr3:25733865 [GRCh38]
Chr3:25775356 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.493-9del deletion Congenital disorder of deglycosylation [RCV001520767]|not specified [RCV000178318] Chr3:25751272 [GRCh38]
Chr3:25792763 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.-8G>A single nucleotide variant not specified [RCV000173464] Chr3:25783398 [GRCh38]
Chr3:25824889 [GRCh37]
Chr3:3p24.2
benign
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1
pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1
pathogenic
NM_018297.4(NGLY1):c.869A>G (p.Asn290Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV000876946]|Inborn genetic diseases [RCV002515506]|not provided [RCV001576791]|not specified [RCV000203090] Chr3:25739589 [GRCh38]
Chr3:25781080 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.881+8C>T single nucleotide variant Congenital disorder of deglycosylation [RCV000545047]|not specified [RCV000604202] Chr3:25739569 [GRCh38]
Chr3:25781060 [GRCh37]
Chr3:3p24.2
benign|likely benign
NM_018297.4(NGLY1):c.1789+5G>A single nucleotide variant not provided [RCV000579236] Chr3:25720009 [GRCh38]
Chr3:25761500 [GRCh37]
Chr3:3p24.2
likely pathogenic
NM_018297.4(NGLY1):c.930C>T (p.Gly310=) single nucleotide variant Congenital disorder of deglycosylation [RCV000496110] Chr3:25737407 [GRCh38]
Chr3:25778898 [GRCh37]
Chr3:3p24.2
pathogenic|uncertain significance
NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV000496134]|not provided [RCV001007960] Chr3:25751134 [GRCh38]
Chr3:25792625 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) single nucleotide variant Congenital disorder of deglycosylation [RCV000496158]|Neurodevelopmental delay [RCV002273988]|not specified [RCV001731437] Chr3:25737406 [GRCh38]
Chr3:25778897 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic|uncertain significance
NM_018297.4(NGLY1):c.347C>G (p.Ser116Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV000496176] Chr3:25764211 [GRCh38]
Chr3:25805702 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1604G>A (p.Trp535Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV000496208]|not provided [RCV001007961] Chr3:25729140 [GRCh38]
Chr3:25770631 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe) single nucleotide variant Congenital disorder of deglycosylation 1 [RCV003133352]|Congenital disorder of deglycosylation [RCV000525699] Chr3:25729275 [GRCh38]
Chr3:25770766 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.492+287G>A single nucleotide variant not provided [RCV001575245] Chr3:25763779 [GRCh38]
Chr3:25805270 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV000651488]|Inborn genetic diseases [RCV000622683]|not provided [RCV000578540] Chr3:25732339 [GRCh38]
Chr3:25773830 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.815A>C (p.Lys272Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV000531063]|Inborn genetic diseases [RCV003372756] Chr3:25739643 [GRCh38]
Chr3:25781134 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1789+1G>T single nucleotide variant not provided [RCV000598648] Chr3:25720013 [GRCh38]
Chr3:25761504 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1570dup (p.Met524fs) duplication Congenital disorder of deglycosylation [RCV002532690]|not provided [RCV000599192] Chr3:25729173..25729174 [GRCh38]
Chr3:25770664..25770665 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1740A>G (p.Thr580=) single nucleotide variant Congenital disorder of deglycosylation [RCV000533026] Chr3:25720063 [GRCh38]
Chr3:25761554 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.728A>C (p.His243Pro) single nucleotide variant Congenital disorder of deglycosylation [RCV000554902] Chr3:25739730 [GRCh38]
Chr3:25781221 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1560C>T (p.Gly520=) single nucleotide variant Congenital disorder of deglycosylation [RCV000555424]|not provided [RCV001562840] Chr3:25729184 [GRCh38]
Chr3:25770675 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.246+8T>A single nucleotide variant Congenital disorder of deglycosylation [RCV000559733] Chr3:25778566 [GRCh38]
Chr3:25820057 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.1300C>G (p.Leu434Val) single nucleotide variant Congenital disorder of deglycosylation [RCV000538049]|not provided [RCV001565771] Chr3:25732444 [GRCh38]
Chr3:25773935 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.550G>T (p.Val184Phe) single nucleotide variant Congenital disorder of deglycosylation [RCV000536135]|not provided [RCV001591282] Chr3:25751206 [GRCh38]
Chr3:25792697 [GRCh37]
Chr3:3p24.2
benign|likely benign
NM_018297.4(NGLY1):c.1150-1G>C single nucleotide variant Congenital disorder of deglycosylation [RCV000763511]|not provided [RCV000413780] Chr3:25733983 [GRCh38]
Chr3:25775474 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic
NM_018297.4(NGLY1):c.314T>G (p.Ile105Ser) single nucleotide variant Abnormal brain morphology [RCV000454236] Chr3:25764244 [GRCh38]
Chr3:25805735 [GRCh37]
Chr3:3p24.2
likely pathogenic
GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)x1 copy number loss See cases [RCV000447472] Chr3:25045365..32691140 [GRCh37]
Chr3:3p24.2-22.3
likely pathogenic
NM_018297.4(NGLY1):c.1722A>G (p.Gln574=) single nucleotide variant Congenital disorder of deglycosylation [RCV000552256]|not provided [RCV001703665] Chr3:25720081 [GRCh38]
Chr3:25761572 [GRCh37]
Chr3:3p24.2
benign|likely benign
NM_018297.4(NGLY1):c.1913del (p.Asn638fs) deletion not provided [RCV000522933] Chr3:25719512 [GRCh38]
Chr3:25761003 [GRCh37]
Chr3:3p24.2
likely pathogenic
NM_018297.4(NGLY1):c.-43G>C single nucleotide variant not provided [RCV001703686] Chr3:25783433 [GRCh38]
Chr3:25824924 [GRCh37]
Chr3:3p24.2
benign|likely benign
NM_018297.4(NGLY1):c.131+11A>G single nucleotide variant Congenital disorder of deglycosylation [RCV002059897]|not specified [RCV000432724] Chr3:25783249 [GRCh38]
Chr3:25824740 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.972G>A (p.Gly324=) single nucleotide variant Congenital disorder of deglycosylation [RCV002062696]|not provided [RCV001697834] Chr3:25737365 [GRCh38]
Chr3:25778856 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1003+15A>C single nucleotide variant Congenital disorder of deglycosylation [RCV002059824]|not specified [RCV000443629] Chr3:25737319 [GRCh38]
Chr3:25778810 [GRCh37]
Chr3:3p24.2
benign|likely benign
NM_018297.4(NGLY1):c.1869T>C (p.Gly623=) single nucleotide variant Congenital disorder of deglycosylation [RCV000552539]|not provided [RCV001720223] Chr3:25719556 [GRCh38]
Chr3:25761047 [GRCh37]
Chr3:3p24.2
benign|likely benign
NM_018297.4(NGLY1):c.582G>A (p.Ala194=) single nucleotide variant Congenital disorder of deglycosylation [RCV001504535]|not provided [RCV001703814] Chr3:25751174 [GRCh38]
Chr3:25792665 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1261-11A>G single nucleotide variant Congenital disorder of deglycosylation [RCV001511615]|not provided [RCV001720130] Chr3:25732494 [GRCh38]
Chr3:25773985 [GRCh37]
Chr3:3p24.2
benign|likely benign
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
NM_018297.4(NGLY1):c.596C>T (p.Pro199Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV000477796]|Inborn genetic diseases [RCV002525747]|not provided [RCV001572534] Chr3:25751160 [GRCh38]
Chr3:25792651 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp) deletion Congenital disorder of deglycosylation 1 [RCV002470875]|Congenital disorder of deglycosylation [RCV001341093]|not provided [RCV000483669] Chr3:25737357..25737359 [GRCh38]
Chr3:25778848..25778850 [GRCh37]
Chr3:3p24.2
likely pathogenic|uncertain significance
NM_018297.4(NGLY1):c.882-14dup duplication Congenital disorder of deglycosylation [RCV002063782]|not specified [RCV000485745] Chr3:25737468..25737469 [GRCh38]
Chr3:25778959..25778960 [GRCh37]
Chr3:3p24.2
benign|likely benign
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3
pathogenic
NM_018297.4(NGLY1):c.730T>C (p.Trp244Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV000496137] Chr3:25739728 [GRCh38]
Chr3:25781219 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.881+5G>T single nucleotide variant Congenital disorder of deglycosylation [RCV000496154] Chr3:25739572 [GRCh38]
Chr3:25781063 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1910del (p.Ser636_Leu637insTer) deletion Congenital disorder of deglycosylation [RCV000496180]|not provided [RCV001008032] Chr3:25719515 [GRCh38]
Chr3:25761006 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic
NM_018297.4(NGLY1):c.1169G>C (p.Arg390Pro) single nucleotide variant Congenital disorder of deglycosylation [RCV000496206]|not provided [RCV003441790] Chr3:25733963 [GRCh38]
Chr3:25775454 [GRCh37]
Chr3:3p24.2
pathogenic|uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
NM_018297.4(NGLY1):c.1470T>G (p.Ser490=) single nucleotide variant Congenital disorder of deglycosylation [RCV000538262]|not specified [RCV000615421] Chr3:25729274 [GRCh38]
Chr3:25770765 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.629A>C (p.Lys210Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV000542033] Chr3:25751127 [GRCh38]
Chr3:25792618 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1608C>A (p.His536Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV000539635]|not provided [RCV001591281] Chr3:25729136 [GRCh38]
Chr3:25770627 [GRCh37]
Chr3:3p24.2
likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_018297.4(NGLY1):c.334A>C (p.Arg112=) single nucleotide variant Congenital disorder of deglycosylation [RCV000534778] Chr3:25764224 [GRCh38]
Chr3:25805715 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.492+6G>A single nucleotide variant Congenital disorder of deglycosylation [RCV000702070]|not provided [RCV001722579] Chr3:25764060 [GRCh38]
Chr3:25805551 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.857_873del (p.Cys286fs) deletion Congenital disorder of deglycosylation [RCV000651484] Chr3:25739585..25739601 [GRCh38]
Chr3:25781076..25781092 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1354C>T (p.Pro452Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV000651485] Chr3:25732390 [GRCh38]
Chr3:25773881 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1333A>C (p.Ile445Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV000651486]|Inborn genetic diseases [RCV002531976]|not provided [RCV001575728] Chr3:25732411 [GRCh38]
Chr3:25773902 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.286G>A (p.Glu96Lys) single nucleotide variant Congenital disorder of deglycosylation [RCV000651487] Chr3:25764272 [GRCh38]
Chr3:25805763 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1508G>A (p.Arg503His) single nucleotide variant Congenital disorder of deglycosylation [RCV000651489]|not provided [RCV001584503] Chr3:25729236 [GRCh38]
Chr3:25770727 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1637C>T (p.Ser546Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV000651490]|not provided [RCV000734278] Chr3:25720166 [GRCh38]
Chr3:25761657 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1415T>C (p.Met472Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV000651491] Chr3:25732329 [GRCh38]
Chr3:25773820 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.818G>C (p.Trp273Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV000651492]|not provided [RCV001550534] Chr3:25739640 [GRCh38]
Chr3:25781131 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1771C>G (p.Gln591Glu) single nucleotide variant Congenital disorder of deglycosylation [RCV000651493] Chr3:25720032 [GRCh38]
Chr3:25761523 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.897G>T (p.Glu299Asp) single nucleotide variant Congenital disorder of deglycosylation [RCV000651494]|Inborn genetic diseases [RCV002531977] Chr3:25737440 [GRCh38]
Chr3:25778931 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.658+7G>C single nucleotide variant Congenital disorder of deglycosylation [RCV000651495] Chr3:25751091 [GRCh38]
Chr3:25792582 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1185T>C (p.His395=) single nucleotide variant Congenital disorder of deglycosylation [RCV000651496] Chr3:25733947 [GRCh38]
Chr3:25775438 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.519A>G (p.Glu173=) single nucleotide variant Congenital disorder of deglycosylation [RCV000651497] Chr3:25751237 [GRCh38]
Chr3:25792728 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1383G>A (p.Gly461=) single nucleotide variant Congenital disorder of deglycosylation [RCV000651498] Chr3:25732361 [GRCh38]
Chr3:25773852 [GRCh37]
Chr3:3p24.2
likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_018297.4(NGLY1):c.1875C>G (p.Val625=) single nucleotide variant Congenital disorder of deglycosylation [RCV000533242] Chr3:25719550 [GRCh38]
Chr3:25761041 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.-28C>T single nucleotide variant not specified [RCV000602501] Chr3:25783418 [GRCh38]
Chr3:25824909 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.468A>G (p.Ser156=) single nucleotide variant Congenital disorder of deglycosylation [RCV001452021]|not specified [RCV000616638] Chr3:25764090 [GRCh38]
Chr3:25805581 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.834G>A (p.Val278=) single nucleotide variant Congenital disorder of deglycosylation [RCV001473772]|not specified [RCV000610779] Chr3:25739624 [GRCh38]
Chr3:25781115 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1913A>G (p.Asn638Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV000534577]|not provided [RCV001755895] Chr3:25719512 [GRCh38]
Chr3:25761003 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) deletion Congenital disorder of deglycosylation 1 [RCV002468595]|Congenital disorder of deglycosylation [RCV000699456]|Intellectual disability [RCV000662298]|not provided [RCV000728678] Chr3:25729208..25729211 [GRCh38]
Chr3:25770699..25770702 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 copy number gain not provided [RCV000682249] Chr3:16923595..45249923 [GRCh37]
Chr3:3p24.3-21.31
pathogenic
NM_018297.4(NGLY1):c.406A>G (p.Thr136Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV000698256]|not provided [RCV003231592] Chr3:25764152 [GRCh38]
Chr3:25805643 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1174T>G (p.Ser392Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV000700458] Chr3:25733958 [GRCh38]
Chr3:25775449 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.448A>G (p.Arg150Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV000701487] Chr3:25764110 [GRCh38]
Chr3:25805601 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.319A>G (p.Ile107Val) single nucleotide variant Congenital disorder of deglycosylation [RCV000694915] Chr3:25764239 [GRCh38]
Chr3:25805730 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1249C>T (p.Leu417Phe) single nucleotide variant Congenital disorder of deglycosylation [RCV000707318] Chr3:25733883 [GRCh38]
Chr3:25775374 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.841C>T (p.His281Tyr) single nucleotide variant Congenital disorder of deglycosylation [RCV000705657]|Inborn genetic diseases [RCV003258940]|not provided [RCV002249422] Chr3:25739617 [GRCh38]
Chr3:25781108 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1517G>A (p.Arg506Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV000686739] Chr3:25729227 [GRCh38]
Chr3:25770718 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.53C>T (p.Ala18Val) single nucleotide variant Congenital disorder of deglycosylation [RCV000692598] Chr3:25783338 [GRCh38]
Chr3:25824829 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1268T>A (p.Leu423Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV000692485]|Inborn genetic diseases [RCV002532215]|NGLY1-related condition [RCV003424286]|not provided [RCV003437398] Chr3:25732476 [GRCh38]
Chr3:25773967 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.1773A>G (p.Gln591=) single nucleotide variant Congenital disorder of deglycosylation [RCV000687883] Chr3:25720030 [GRCh38]
Chr3:25761521 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.659G>A (p.Gly220Asp) single nucleotide variant Congenital disorder of deglycosylation [RCV000693243]|Inborn genetic diseases [RCV003163167] Chr3:25739799 [GRCh38]
Chr3:25781290 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1235A>T (p.Asp412Val) single nucleotide variant Congenital disorder of deglycosylation [RCV000693613]|not provided [RCV001508141] Chr3:25733897 [GRCh38]
Chr3:25775388 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1805C>G (p.Ser602Cys) single nucleotide variant Congenital disorder of deglycosylation [RCV000695859] Chr3:25719620 [GRCh38]
Chr3:25761111 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.388G>A (p.Ala130Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV000701042] Chr3:25764170 [GRCh38]
Chr3:25805661 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.1795A>G (p.Ser599Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV000692097]|not provided [RCV001566291] Chr3:25719630 [GRCh38]
Chr3:25761121 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.493-232A>G single nucleotide variant not provided [RCV001574888] Chr3:25751495 [GRCh38]
Chr3:25792986 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.3GGC[5] (p.Ala5dup) microsatellite Congenital disorder of deglycosylation [RCV000806302]|not provided [RCV001574620] Chr3:25783376..25783377 [GRCh38]
Chr3:25824867..25824868 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1868_1870del (p.Gly623del) deletion Congenital disorder of deglycosylation [RCV000806030]|not provided [RCV001805877] Chr3:25719555..25719557 [GRCh38]
Chr3:25761046..25761048 [GRCh37]
Chr3:3p24.2
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_018297.4(NGLY1):c.132-205del deletion not provided [RCV001539754] Chr3:25778893 [GRCh38]
Chr3:25820384 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.1214T>C (p.Val405Ala) single nucleotide variant not provided [RCV001665339] Chr3:25733918 [GRCh38]
Chr3:25775409 [GRCh37]
Chr3:3p24.2
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_018297.4(NGLY1):c.609A>G (p.Leu203=) single nucleotide variant Congenital disorder of deglycosylation [RCV000893219] Chr3:25751147 [GRCh38]
Chr3:25792638 [GRCh37]
Chr3:3p24.2
likely benign
NM_001145294.2(NGLY1):c.6-4927_6-4909del deletion not provided [RCV001565440] Chr3:25783597..25783615 [GRCh38]
Chr3:25825088..25825106 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.131+38G>A single nucleotide variant not provided [RCV001565627] Chr3:25783222 [GRCh38]
Chr3:25824713 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1004-379del deletion not provided [RCV001544842] Chr3:25736528 [GRCh38]
Chr3:25778019 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1437C>T (p.Thr479=) single nucleotide variant Congenital disorder of deglycosylation [RCV000880820] Chr3:25729307 [GRCh38]
Chr3:25770798 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.493-5A>G single nucleotide variant Congenital disorder of deglycosylation [RCV000897563] Chr3:25751268 [GRCh38]
Chr3:25792759 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1743A>G (p.Val581=) single nucleotide variant Congenital disorder of deglycosylation [RCV001425214]|not provided [RCV000925019] Chr3:25720060 [GRCh38]
Chr3:25761551 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.390C>G (p.Ala130=) single nucleotide variant Congenital disorder of deglycosylation [RCV000875768]|not provided [RCV001664517] Chr3:25764168 [GRCh38]
Chr3:25805659 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.837A>G (p.Glu279=) single nucleotide variant Congenital disorder of deglycosylation [RCV001407423] Chr3:25739621 [GRCh38]
Chr3:25781112 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.493-8C>T single nucleotide variant not provided [RCV000877051] Chr3:25751271 [GRCh38]
Chr3:25792762 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.636G>A (p.Ser212=) single nucleotide variant Congenital disorder of deglycosylation [RCV000899033] Chr3:25751120 [GRCh38]
Chr3:25792611 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1257G>A (p.Lys419=) single nucleotide variant Congenital disorder of deglycosylation [RCV001393668] Chr3:25733875 [GRCh38]
Chr3:25775366 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.96C>G (p.Ser32=) single nucleotide variant Congenital disorder of deglycosylation [RCV001448809] Chr3:25783295 [GRCh38]
Chr3:25824786 [GRCh37]
Chr3:3p24.2
likely benign
NC_000003.12:g.(?_25719440)_(25734002_?)del deletion Congenital disorder of deglycosylation [RCV001033138] Chr3:25760931..25775493 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.476C>T (p.Pro159Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV001069931] Chr3:25764082 [GRCh38]
Chr3:25805573 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.26C>G (p.Ser9Cys) single nucleotide variant Congenital disorder of deglycosylation [RCV001048391] Chr3:25783365 [GRCh38]
Chr3:25824856 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1232G>A (p.Arg411Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV001038257]|not provided [RCV002462267] Chr3:25733900 [GRCh38]
Chr3:25775391 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.761G>T (p.Gly254Val) single nucleotide variant Congenital disorder of deglycosylation [RCV001057609] Chr3:25739697 [GRCh38]
Chr3:25781188 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.882-7A>T single nucleotide variant Congenital disorder of deglycosylation [RCV001460484] Chr3:25737462 [GRCh38]
Chr3:25778953 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.643A>G (p.Arg215Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV000873075]|not specified [RCV002235921] Chr3:25751113 [GRCh38]
Chr3:25792604 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.411A>G (p.Thr137=) single nucleotide variant Congenital disorder of deglycosylation [RCV002065770] Chr3:25764147 [GRCh38]
Chr3:25805638 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1436C>T (p.Thr479Ile) single nucleotide variant Congenital disorder of deglycosylation [RCV000946099]|not provided [RCV001551494] Chr3:25729308 [GRCh38]
Chr3:25770799 [GRCh37]
Chr3:3p24.2
benign|likely benign
NM_018297.4(NGLY1):c.1004-5A>G single nucleotide variant Congenital disorder of deglycosylation [RCV001493496] Chr3:25736154 [GRCh38]
Chr3:25777645 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1451G>C (p.Cys484Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV000946098]|not provided [RCV001561360] Chr3:25729293 [GRCh38]
Chr3:25770784 [GRCh37]
Chr3:3p24.2
benign|likely benign
NM_018297.4(NGLY1):c.1107G>A (p.Trp369Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003581910]|Inborn genetic diseases [RCV003272060] Chr3:25736046 [GRCh38]
Chr3:25777537 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1649A>G (p.Tyr550Cys) single nucleotide variant Congenital disorder of deglycosylation [RCV000813427]|Inborn genetic diseases [RCV002538161] Chr3:25720154 [GRCh38]
Chr3:25761645 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1789+17A>C single nucleotide variant Congenital disorder of deglycosylation [RCV003741220]|not provided [RCV000841934] Chr3:25719997 [GRCh38]
Chr3:25761488 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1481_1488del (p.His494fs) deletion Congenital disorder of deglycosylation [RCV000824894]|not provided [RCV001008628] Chr3:25729256..25729263 [GRCh38]
Chr3:25770747..25770754 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic
NM_018297.4(NGLY1):c.452A>G (p.Asn151Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV000798207] Chr3:25764106 [GRCh38]
Chr3:25805597 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.648A>G (p.Lys216=) single nucleotide variant Congenital disorder of deglycosylation [RCV000937533] Chr3:25751108 [GRCh38]
Chr3:25792599 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.57G>A (p.Glu19=) single nucleotide variant Congenital disorder of deglycosylation [RCV000893036] Chr3:25783334 [GRCh38]
Chr3:25824825 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.44C>G (p.Pro15Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV000812090]|not provided [RCV001536615] Chr3:25783347 [GRCh38]
Chr3:25824838 [GRCh37]
Chr3:3p24.2
uncertain significance
GRCh37/hg19 3p24.2(chr3:25791210-25889888)x1 copy number loss not provided [RCV000848079] Chr3:25791210..25889888 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1732A>G (p.Thr578Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV000795859] Chr3:25720071 [GRCh38]
Chr3:25761562 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.491C>T (p.Thr164Met) single nucleotide variant Congenital disorder of deglycosylation [RCV000824105] Chr3:25764067 [GRCh38]
Chr3:25805558 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1228C>T (p.Leu410Phe) single nucleotide variant Congenital disorder of deglycosylation [RCV000802179]|not provided [RCV001570954] Chr3:25733904 [GRCh38]
Chr3:25775395 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1240A>G (p.Ile414Val) single nucleotide variant Congenital disorder of deglycosylation [RCV000802732] Chr3:25733892 [GRCh38]
Chr3:25775383 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.726dup (p.His243fs) duplication Congenital disorder of deglycosylation [RCV001046154] Chr3:25739731..25739732 [GRCh38]
Chr3:25781222..25781223 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1833A>C (p.Glu611Asp) single nucleotide variant Congenital disorder of deglycosylation [RCV001046465] Chr3:25719592 [GRCh38]
Chr3:25761083 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1447C>A (p.Pro483Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV000812242]|Inborn genetic diseases [RCV003372866] Chr3:25729297 [GRCh38]
Chr3:25770788 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.967G>A (p.Val323Ile) single nucleotide variant Congenital disorder of deglycosylation [RCV000793967] Chr3:25737370 [GRCh38]
Chr3:25778861 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.247-1G>A single nucleotide variant Congenital disorder of deglycosylation [RCV000796100] Chr3:25764312 [GRCh38]
Chr3:25805803 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic
NM_018297.4(NGLY1):c.455G>A (p.Arg152His) single nucleotide variant Congenital disorder of deglycosylation [RCV000793740] Chr3:25764103 [GRCh38]
Chr3:25805594 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1355C>G (p.Pro452Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV000814980] Chr3:25732389 [GRCh38]
Chr3:25773880 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.800G>T (p.Ser267Ile) single nucleotide variant Congenital disorder of deglycosylation [RCV000798845]|Inborn genetic diseases [RCV002538007]|not provided [RCV001557241] Chr3:25739658 [GRCh38]
Chr3:25781149 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter) single nucleotide variant Congenital disorder of deglycosylation 1 [RCV003338810]|Congenital disorder of deglycosylation [RCV000802056]|Inborn genetic diseases [RCV002537141]|not provided [RCV001008026] Chr3:25733901 [GRCh38]
Chr3:25775392 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic
NM_018297.4(NGLY1):c.642T>C (p.Ala214=) single nucleotide variant Congenital disorder of deglycosylation [RCV001404666] Chr3:25751114 [GRCh38]
Chr3:25792605 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1794C>T (p.Asn598=) single nucleotide variant Congenital disorder of deglycosylation [RCV001454300] Chr3:25719631 [GRCh38]
Chr3:25761122 [GRCh37]
Chr3:3p24.2
likely benign
NC_000003.12:g.(?_25751078)_(25751283_?)del deletion Congenital disorder of deglycosylation [RCV000801975] Chr3:25751078..25751283 [GRCh38]
Chr3:25792569..25792774 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1788C>T (p.Gly596=) single nucleotide variant Congenital disorder of deglycosylation [RCV001068614] Chr3:25720015 [GRCh38]
Chr3:25761506 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.550G>A (p.Val184Ile) single nucleotide variant Congenital disorder of deglycosylation [RCV001047139] Chr3:25751206 [GRCh38]
Chr3:25792697 [GRCh37]
Chr3:3p24.2
uncertain significance
GRCh37/hg19 3p24.3-24.1(chr3:19064852-26448689)x1 copy number loss not provided [RCV000848353] Chr3:19064852..26448689 [GRCh37]
Chr3:3p24.3-24.1
pathogenic
NM_018297.4(NGLY1):c.1819dup (p.Ser607fs) duplication Congenital disorder of deglycosylation [RCV001860591]|not provided [RCV001008539] Chr3:25719605..25719606 [GRCh38]
Chr3:25761096..25761097 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic
NM_018297.4(NGLY1):c.854C>G (p.Ala285Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001043678] Chr3:25739604 [GRCh38]
Chr3:25781095 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1363C>T (p.Leu455Phe) single nucleotide variant Congenital disorder of deglycosylation [RCV001045465] Chr3:25732381 [GRCh38]
Chr3:25773872 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.758G>T (p.Cys253Phe) single nucleotide variant Global developmental delay [RCV001003583] Chr3:25739700 [GRCh38]
Chr3:25781191 [GRCh37]
Chr3:3p24.2
likely pathogenic|uncertain significance
NM_018297.4(NGLY1):c.798del (p.Ser267fs) deletion not provided [RCV001008629] Chr3:25739660 [GRCh38]
Chr3:25781151 [GRCh37]
Chr3:3p24.2
likely pathogenic
NM_018297.4(NGLY1):c.1068A>G (p.Glu356=) single nucleotide variant Congenital disorder of deglycosylation [RCV001247901] Chr3:25736085 [GRCh38]
Chr3:25777576 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.1954A>G (p.Ser652Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001233501] Chr3:25719471 [GRCh38]
Chr3:25760962 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1697G>A (p.Ser566Asn) single nucleotide variant Congenital disorder of deglycosylation [RCV001226515] Chr3:25720106 [GRCh38]
Chr3:25761597 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.979G>A (p.Ala327Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV001224579] Chr3:25737358 [GRCh38]
Chr3:25778849 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.923G>A (p.Arg308Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV001242866] Chr3:25737414 [GRCh38]
Chr3:25778905 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.658+1G>A single nucleotide variant Congenital disorder of deglycosylation [RCV001242867]|not provided [RCV001785800] Chr3:25751097 [GRCh38]
Chr3:25792588 [GRCh37]
Chr3:3p24.2
likely pathogenic
NM_018297.4(NGLY1):c.1250_1258dup (p.Leu417_Lys419dup) duplication Congenital disorder of deglycosylation [RCV001226863] Chr3:25733873..25733874 [GRCh38]
Chr3:25775364..25775365 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1676C>T (p.Ser559Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV001221167] Chr3:25720127 [GRCh38]
Chr3:25761618 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.829G>C (p.Glu277Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV001214712] Chr3:25739629 [GRCh38]
Chr3:25781120 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1790A>G (p.Asp597Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001214731] Chr3:25719635 [GRCh38]
Chr3:25761126 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.164G>A (p.Arg55Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV001221559] Chr3:25778656 [GRCh38]
Chr3:25820147 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1261-3C>T single nucleotide variant Congenital disorder of deglycosylation [RCV001218575] Chr3:25732486 [GRCh38]
Chr3:25773977 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.364G>A (p.Val122Ile) single nucleotide variant Congenital disorder of deglycosylation [RCV001238684] Chr3:25764194 [GRCh38]
Chr3:25805685 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1829C>T (p.Thr610Ile) single nucleotide variant Congenital disorder of deglycosylation [RCV001204041] Chr3:25719596 [GRCh38]
Chr3:25761087 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.403C>G (p.Pro135Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV001236078]|Inborn genetic diseases [RCV003284097] Chr3:25764155 [GRCh38]
Chr3:25805646 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.581C>T (p.Ala194Val) single nucleotide variant Congenital disorder of deglycosylation [RCV001211527] Chr3:25751175 [GRCh38]
Chr3:25792666 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1463A>G (p.Lys488Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV001215529] Chr3:25729281 [GRCh38]
Chr3:25770772 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1264C>T (p.Gln422Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV000995586] Chr3:25732480 [GRCh38]
Chr3:25773971 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys) single nucleotide variant Congenital disorder of deglycosylation 1 [RCV002468613]|Congenital disorder of deglycosylation [RCV000995587]|not provided [RCV003148909] Chr3:25736128 [GRCh38]
Chr3:25777619 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic
NM_018297.4(NGLY1):c.14C>A (p.Ala5Glu) single nucleotide variant Congenital disorder of deglycosylation [RCV001212630]|not provided [RCV001574948] Chr3:25783377 [GRCh38]
Chr3:25824868 [GRCh37]
Chr3:3p24.2
uncertain significance
NC_000003.11:g.(?_25470223)_(25824881_?)del deletion Congenital disorder of deglycosylation [RCV003122294]|Microphthalmia, syndromic 12 [RCV003105380] Chr3:25470223..25824881 [GRCh37]
Chr3:3p24.2
pathogenic|uncertain significance
NM_017897.3(OXSM):c.-46G>T single nucleotide variant not provided [RCV001553248] Chr3:25790133 [GRCh38]
Chr3:25831624 [GRCh37]
Chr3:3p24.2
likely benign
NM_001145294.2(NGLY1):c.-157T>C single nucleotide variant not provided [RCV001599118] Chr3:25790022 [GRCh38]
Chr3:25831513 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1611+297A>G single nucleotide variant not provided [RCV001588557] Chr3:25728836 [GRCh38]
Chr3:25770327 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.132-238del deletion not provided [RCV001533800] Chr3:25778926 [GRCh38]
Chr3:25820417 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1425+213A>C single nucleotide variant not provided [RCV001715900] Chr3:25732106 [GRCh38]
Chr3:25773597 [GRCh37]
Chr3:3p24.2
benign
NM_001145294.2(NGLY1):c.6-5124A>C single nucleotide variant not provided [RCV001715923] Chr3:25783812 [GRCh38]
Chr3:25825303 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.132-188del deletion not provided [RCV001693928] Chr3:25778876 [GRCh38]
Chr3:25820367 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.132-274C>A single nucleotide variant not provided [RCV001696452] Chr3:25778962 [GRCh38]
Chr3:25820453 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.132-252_132-238del deletion not provided [RCV001669573] Chr3:25778926..25778940 [GRCh38]
Chr3:25820417..25820431 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.882-96A>G single nucleotide variant not provided [RCV001687465] Chr3:25737551 [GRCh38]
Chr3:25779042 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.1260+240T>A single nucleotide variant not provided [RCV001669790] Chr3:25733632 [GRCh38]
Chr3:25775123 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.132-224A>C single nucleotide variant not provided [RCV001639981] Chr3:25778912 [GRCh38]
Chr3:25820403 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.132-239_132-238del deletion not provided [RCV001541458] Chr3:25778926..25778927 [GRCh38]
Chr3:25820417..25820418 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.246+193A>G single nucleotide variant not provided [RCV001652480] Chr3:25778381 [GRCh38]
Chr3:25819872 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.493-5A>T single nucleotide variant not provided [RCV000963428] Chr3:25751268 [GRCh38]
Chr3:25792759 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.663C>T (p.Ile221=) single nucleotide variant Congenital disorder of deglycosylation [RCV001499762] Chr3:25739795 [GRCh38]
Chr3:25781286 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1695T>C (p.Asp565=) single nucleotide variant Congenital disorder of deglycosylation [RCV001488909] Chr3:25720108 [GRCh38]
Chr3:25761599 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.667A>G (p.Ile223Val) single nucleotide variant Congenital disorder of deglycosylation [RCV000921878]|not provided [RCV001558378] Chr3:25739791 [GRCh38]
Chr3:25781282 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.548T>C (p.Leu183Pro) single nucleotide variant Congenital disorder of deglycosylation [RCV001034871] Chr3:25751208 [GRCh38]
Chr3:25792699 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1042C>T (p.Arg348Trp) single nucleotide variant Congenital disorder of deglycosylation [RCV001238934] Chr3:25736111 [GRCh38]
Chr3:25777602 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.151T>C (p.Tyr51His) single nucleotide variant Congenital disorder of deglycosylation [RCV001239216] Chr3:25778669 [GRCh38]
Chr3:25820160 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1507C>G (p.Arg503Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001239410] Chr3:25729237 [GRCh38]
Chr3:25770728 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.485C>T (p.Ala162Val) single nucleotide variant Congenital disorder of deglycosylation [RCV001222860] Chr3:25764073 [GRCh38]
Chr3:25805564 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.409A>C (p.Thr137Pro) single nucleotide variant Congenital disorder of deglycosylation [RCV001208098] Chr3:25764149 [GRCh38]
Chr3:25805640 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1448C>T (p.Pro483Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV001214585] Chr3:25729296 [GRCh38]
Chr3:25770787 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1366G>C (p.Gly456Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV001050526] Chr3:25732378 [GRCh38]
Chr3:25773869 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1043G>A (p.Arg348Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV001245225] Chr3:25736110 [GRCh38]
Chr3:25777601 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.104T>A (p.Leu35Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV001245607] Chr3:25783287 [GRCh38]
Chr3:25824778 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.362A>G (p.Lys121Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV001069598] Chr3:25764196 [GRCh38]
Chr3:25805687 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1122C>G (p.Ser374=) single nucleotide variant Congenital disorder of deglycosylation [RCV001225130] Chr3:25736031 [GRCh38]
Chr3:25777522 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1687A>G (p.Lys563Glu) single nucleotide variant Congenital disorder of deglycosylation [RCV001045906] Chr3:25720116 [GRCh38]
Chr3:25761607 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.132-39G>T single nucleotide variant not provided [RCV001551161] Chr3:25778727 [GRCh38]
Chr3:25820218 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1261-48A>G single nucleotide variant not provided [RCV001578028] Chr3:25732531 [GRCh38]
Chr3:25774022 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1294G>T (p.Glu432Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV000991415] Chr3:25732450 [GRCh38]
Chr3:25773941 [GRCh37]
Chr3:3p24.2
likely pathogenic
NM_018297.4(NGLY1):c.247-77A>G single nucleotide variant not provided [RCV001677508] Chr3:25764388 [GRCh38]
Chr3:25805879 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.1790-80A>G single nucleotide variant not provided [RCV001552278] Chr3:25719715 [GRCh38]
Chr3:25761206 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.658+281T>C single nucleotide variant not provided [RCV001621865] Chr3:25750817 [GRCh38]
Chr3:25792308 [GRCh37]
Chr3:3p24.2
benign
NM_017897.3(OXSM):c.-54T>G single nucleotide variant not provided [RCV001561048] Chr3:25790125 [GRCh38]
Chr3:25831616 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1425+50T>C single nucleotide variant not provided [RCV001536319] Chr3:25732269 [GRCh38]
Chr3:25773760 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.659-102A>T single nucleotide variant not provided [RCV001720804] Chr3:25739901 [GRCh38]
Chr3:25781392 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.961C>T (p.Arg321Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV001213883]|not provided [RCV001008700] Chr3:25737376 [GRCh38]
Chr3:25778867 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic
NM_018297.4(NGLY1):c.1242del (p.Asn415fs) deletion Congenital disorder of deglycosylation [RCV001860596]|Inborn genetic diseases [RCV001266294]|not provided [RCV001008834] Chr3:25733890 [GRCh38]
Chr3:25775381 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1260+4T>C single nucleotide variant Congenital disorder of deglycosylation [RCV001070955] Chr3:25733868 [GRCh38]
Chr3:25775359 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.25T>A (p.Ser9Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV001045779]|Inborn genetic diseases [RCV002552587] Chr3:25783366 [GRCh38]
Chr3:25824857 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_001145294.2(NGLY1):c.6-4880CCGAGGACCCCGCCCCTGCCGG[2] microsatellite not provided [RCV001615008] Chr3:25783481..25783524 [GRCh38]
Chr3:25824972..25825015 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.882-225G>A single nucleotide variant not provided [RCV001590349] Chr3:25737680 [GRCh38]
Chr3:25779171 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.132-264dup duplication not provided [RCV001585188] Chr3:25778925..25778926 [GRCh38]
Chr3:25820416..25820417 [GRCh37]
Chr3:3p24.2
likely benign
NM_017897.3(OXSM):c.-76A>C single nucleotide variant not provided [RCV001671540] Chr3:25790103 [GRCh38]
Chr3:25831594 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.492+167G>A single nucleotide variant not provided [RCV001685095] Chr3:25763899 [GRCh38]
Chr3:25805390 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.1120T>C (p.Ser374Pro) single nucleotide variant Congenital disorder of deglycosylation [RCV001203535] Chr3:25736033 [GRCh38]
Chr3:25777524 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1238C>T (p.Thr413Ile) single nucleotide variant Congenital disorder of deglycosylation [RCV001061216] Chr3:25733894 [GRCh38]
Chr3:25775385 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.218A>G (p.Glu73Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001040120] Chr3:25778602 [GRCh38]
Chr3:25820093 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.88G>A (p.Glu30Lys) single nucleotide variant Congenital disorder of deglycosylation [RCV001232056] Chr3:25783303 [GRCh38]
Chr3:25824794 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1171T>C (p.Tyr391His) single nucleotide variant Congenital disorder of deglycosylation [RCV001202219] Chr3:25733961 [GRCh38]
Chr3:25775452 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.2T>C (p.Met1Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV001052112]|not provided [RCV003106103] Chr3:25783389 [GRCh38]
Chr3:25824880 [GRCh37]
Chr3:3p24.2
likely pathogenic|uncertain significance
NM_018297.4(NGLY1):c.1033_1035del (p.Ser345del) deletion Congenital disorder of deglycosylation [RCV001202415] Chr3:25736118..25736120 [GRCh38]
Chr3:25777609..25777611 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1796G>A (p.Ser599Asn) single nucleotide variant Congenital disorder of deglycosylation [RCV001218295] Chr3:25719629 [GRCh38]
Chr3:25761120 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.200C>T (p.Pro67Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV001219443] Chr3:25778620 [GRCh38]
Chr3:25820111 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1622C>T (p.Ala541Val) single nucleotide variant Congenital disorder of deglycosylation [RCV001215307] Chr3:25720181 [GRCh38]
Chr3:25761672 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1538C>G (p.Thr513Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV001059420] Chr3:25729206 [GRCh38]
Chr3:25770697 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.319A>C (p.Ile107Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV001040035]|not provided [RCV002260676] Chr3:25764239 [GRCh38]
Chr3:25805730 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.708G>T (p.Trp236Cys) single nucleotide variant Congenital disorder of deglycosylation [RCV001027427] Chr3:25739750 [GRCh38]
Chr3:25781241 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1169G>A (p.Arg390Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV001027428] Chr3:25733963 [GRCh38]
Chr3:25775454 [GRCh37]
Chr3:3p24.2
likely pathogenic
NM_018297.4(NGLY1):c.182T>G (p.Phe61Cys) single nucleotide variant Congenital disorder of deglycosylation [RCV001055732] Chr3:25778638 [GRCh38]
Chr3:25820129 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.305G>T (p.Arg102Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV001056844] Chr3:25764253 [GRCh38]
Chr3:25805744 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.246+5G>A single nucleotide variant Congenital disorder of deglycosylation [RCV001063019] Chr3:25778569 [GRCh38]
Chr3:25820060 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1709G>C (p.Arg570Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV001215183] Chr3:25720094 [GRCh38]
Chr3:25761585 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1289G>A (p.Arg430Lys) single nucleotide variant Congenital disorder of deglycosylation [RCV001057155]|not provided [RCV001548691] Chr3:25732455 [GRCh38]
Chr3:25773946 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1757G>A (p.Arg586Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV001214679] Chr3:25720046 [GRCh38]
Chr3:25761537 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.885T>C (p.Tyr295=) single nucleotide variant not provided [RCV001253826] Chr3:25737452 [GRCh38]
Chr3:25778943 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.247-3C>A single nucleotide variant Congenital disorder of deglycosylation [RCV001350235]|not provided [RCV001732133] Chr3:25764314 [GRCh38]
Chr3:25805805 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.781dup (p.Asp261fs) duplication not provided [RCV002280088] Chr3:25739676..25739677 [GRCh38]
Chr3:25781167..25781168 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1260+6_1260+7delinsCG indel Congenital disorder of deglycosylation [RCV001312828] Chr3:25733865..25733866 [GRCh38]
Chr3:25775356..25775357 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.736A>T (p.Asn246Tyr) single nucleotide variant Congenital disorder of deglycosylation [RCV001304513]|Inborn genetic diseases [RCV002539554] Chr3:25739722 [GRCh38]
Chr3:25781213 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys) single nucleotide variant Congenital disorder of deglycosylation 1 [RCV002471069]|Neurodevelopmental abnormality [RCV001264673] Chr3:25737355 [GRCh38]
Chr3:25778846 [GRCh37]
Chr3:3p24.2
likely pathogenic
NM_018297.4(NGLY1):c.1881G>A (p.Trp627Ter) single nucleotide variant not provided [RCV001268188] Chr3:25719544 [GRCh38]
Chr3:25761035 [GRCh37]
Chr3:3p24.2
likely pathogenic
NM_018297.4(NGLY1):c.1067A>G (p.Glu356Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001270700] Chr3:25736086 [GRCh38]
Chr3:25777577 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1149+43T>C single nucleotide variant not provided [RCV001527800] Chr3:25735961 [GRCh38]
Chr3:25777452 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1260G>C (p.Gln420His) single nucleotide variant Congenital disorder of deglycosylation [RCV001262564] Chr3:25733872 [GRCh38]
Chr3:25775363 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1084C>G (p.Pro362Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV001313853] Chr3:25736069 [GRCh38]
Chr3:25777560 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.880A>G (p.Arg294Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001297805] Chr3:25739578 [GRCh38]
Chr3:25781069 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.304C>T (p.Arg102Cys) single nucleotide variant Congenital disorder of deglycosylation [RCV001309845] Chr3:25764254 [GRCh38]
Chr3:25805745 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.959G>C (p.Cys320Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV001295787]|not provided [RCV002282510] Chr3:25737378 [GRCh38]
Chr3:25778869 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.729C>G (p.His243Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV001316880] Chr3:25739729 [GRCh38]
Chr3:25781220 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.508G>A (p.Ala170Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV001342798] Chr3:25751248 [GRCh38]
Chr3:25792739 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.633A>T (p.Leu211Phe) single nucleotide variant Congenital disorder of deglycosylation [RCV001301303] Chr3:25751123 [GRCh38]
Chr3:25792614 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1525A>G (p.Asn509Asp) single nucleotide variant Congenital disorder of deglycosylation [RCV001334012] Chr3:25729219 [GRCh38]
Chr3:25770710 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1030C>T (p.Pro344Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV001321285] Chr3:25736123 [GRCh38]
Chr3:25777614 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn) single nucleotide variant Congenital disorder of deglycosylation 1 [RCV002486393]|Congenital disorder of deglycosylation [RCV001343486]|not provided [RCV003322883] Chr3:25764204 [GRCh38]
Chr3:25805695 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.580G>A (p.Ala194Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV001305044] Chr3:25751176 [GRCh38]
Chr3:25792667 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1771C>T (p.Gln591Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV001383326] Chr3:25720032 [GRCh38]
Chr3:25761523 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.999C>A (p.Tyr333Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV001383339] Chr3:25737338 [GRCh38]
Chr3:25778829 [GRCh37]
Chr3:3p24.2
pathogenic
NC_000003.11:g.(?_25760931)_(25831376_?)del deletion Congenital disorder of deglycosylation [RCV001383360] Chr3:25760931..25831376 [GRCh37]
Chr3:3p24.2
pathogenic
NC_000003.11:g.(?_25820055)_(25824881_?)del deletion Congenital disorder of deglycosylation [RCV001383362] Chr3:25820055..25824881 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1370G>C (p.Gly457Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV001361559] Chr3:25732374 [GRCh38]
Chr3:25773865 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1409G>A (p.Gly470Asp) single nucleotide variant Congenital disorder of deglycosylation [RCV001372517] Chr3:25732335 [GRCh38]
Chr3:25773826 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.773G>A (p.Arg258Lys) single nucleotide variant Congenital disorder of deglycosylation [RCV001370313] Chr3:25739685 [GRCh38]
Chr3:25781176 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1003+8A>C single nucleotide variant Congenital disorder of deglycosylation [RCV001433872] Chr3:25737326 [GRCh38]
Chr3:25778817 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.776C>G (p.Ser259Cys) single nucleotide variant Congenital disorder of deglycosylation [RCV001332246] Chr3:25739682 [GRCh38]
Chr3:25781173 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.554A>G (p.Tyr185Cys) single nucleotide variant Congenital disorder of deglycosylation [RCV001294881]|not provided [RCV003481056] Chr3:25751202 [GRCh38]
Chr3:25792693 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1714A>G (p.Ser572Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001360679] Chr3:25720089 [GRCh38]
Chr3:25761580 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1305G>A (p.Gln435=) single nucleotide variant Congenital disorder of deglycosylation [RCV001433777] Chr3:25732439 [GRCh38]
Chr3:25773930 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.521T>G (p.Val174Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001349695] Chr3:25751235 [GRCh38]
Chr3:25792726 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.120C>G (p.Asp40Glu) single nucleotide variant Congenital disorder of deglycosylation [RCV001324657] Chr3:25783271 [GRCh38]
Chr3:25824762 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1781T>C (p.Leu594Pro) single nucleotide variant Congenital disorder of deglycosylation [RCV001344656] Chr3:25720022 [GRCh38]
Chr3:25761513 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.539A>G (p.Gln180Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV001299031] Chr3:25751217 [GRCh38]
Chr3:25792708 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1901G>C (p.Arg634Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV001303300] Chr3:25719524 [GRCh38]
Chr3:25761015 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.493-4T>G single nucleotide variant Congenital disorder of deglycosylation [RCV001346618] Chr3:25751267 [GRCh38]
Chr3:25792758 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.91G>A (p.Ala31Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV001345852] Chr3:25783300 [GRCh38]
Chr3:25824791 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.41C>T (p.Ser14Phe) single nucleotide variant Congenital disorder of deglycosylation [RCV001320231] Chr3:25783350 [GRCh38]
Chr3:25824841 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1837del (p.Ile613fs) deletion Congenital disorder of deglycosylation [RCV001270701] Chr3:25719588 [GRCh38]
Chr3:25761079 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.901C>G (p.Leu301Val) single nucleotide variant Congenital disorder of deglycosylation [RCV001372045] Chr3:25737436 [GRCh38]
Chr3:25778927 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1858A>G (p.Arg620Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001309866] Chr3:25719567 [GRCh38]
Chr3:25761058 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.419C>T (p.Ser140Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV001338910] Chr3:25764139 [GRCh38]
Chr3:25805630 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.586G>T (p.Ala196Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV001338947] Chr3:25751170 [GRCh38]
Chr3:25792661 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.690G>T (p.Leu230Phe) single nucleotide variant Congenital disorder of deglycosylation [RCV001369653] Chr3:25739768 [GRCh38]
Chr3:25781259 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1175C>T (p.Ser392Phe) single nucleotide variant Congenital disorder of deglycosylation [RCV001302297] Chr3:25733957 [GRCh38]
Chr3:25775448 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.370T>G (p.Ser124Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV001322371] Chr3:25764188 [GRCh38]
Chr3:25805679 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.494T>G (p.Val165Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001342984] Chr3:25751262 [GRCh38]
Chr3:25792753 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1345_1346delinsTA (p.Thr449Tyr) indel Congenital disorder of deglycosylation [RCV001304585] Chr3:25732398..25732399 [GRCh38]
Chr3:25773889..25773890 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.544G>A (p.Val182Met) single nucleotide variant Congenital disorder of deglycosylation [RCV001362294] Chr3:25751212 [GRCh38]
Chr3:25792703 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1681G>A (p.Gly561Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV001364471]|Inborn genetic diseases [RCV002550046] Chr3:25720122 [GRCh38]
Chr3:25761613 [GRCh37]
Chr3:3p24.2
uncertain significance
NC_000003.11:g.(?_25805537)_(25805822_?)del deletion Congenital disorder of deglycosylation [RCV001325414] Chr3:25805537..25805822 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1876G>A (p.Ala626Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV001366452] Chr3:25719549 [GRCh38]
Chr3:25761040 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.291G>T (p.Gln97His) single nucleotide variant Congenital disorder of deglycosylation [RCV001351114] Chr3:25764267 [GRCh38]
Chr3:25805758 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.626A>G (p.Glu209Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001350714] Chr3:25751130 [GRCh38]
Chr3:25792621 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.849T>G (p.Cys283Trp) single nucleotide variant Congenital disorder of deglycosylation [RCV001270699] Chr3:25739609 [GRCh38]
Chr3:25781100 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.603A>G (p.Gln201=) single nucleotide variant Congenital disorder of deglycosylation [RCV001367743] Chr3:25751153 [GRCh38]
Chr3:25792644 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.1304A>G (p.Gln435Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV001315178] Chr3:25732440 [GRCh38]
Chr3:25773931 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1941A>T (p.Ile647=) single nucleotide variant Congenital disorder of deglycosylation [RCV001421339] Chr3:25719484 [GRCh38]
Chr3:25760975 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.597G>A (p.Pro199=) single nucleotide variant Congenital disorder of deglycosylation [RCV001308095] Chr3:25751159 [GRCh38]
Chr3:25792650 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.889A>T (p.Asn297Tyr) single nucleotide variant Congenital disorder of deglycosylation 1 [RCV002504477]|Congenital disorder of deglycosylation [RCV001312939]|Inborn genetic diseases [RCV002543613] Chr3:25737448 [GRCh38]
Chr3:25778939 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.962G>A (p.Arg321Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV001365809] Chr3:25737375 [GRCh38]
Chr3:25778866 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.823G>A (p.Ala275Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV001324593] Chr3:25739635 [GRCh38]
Chr3:25781126 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1857C>T (p.Ser619=) single nucleotide variant Congenital disorder of deglycosylation [RCV001438771]|not provided [RCV001553269] Chr3:25719568 [GRCh38]
Chr3:25761059 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.951A>G (p.Thr317=) single nucleotide variant Congenital disorder of deglycosylation [RCV001498729] Chr3:25737386 [GRCh38]
Chr3:25778877 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.894T>A (p.Pro298=) single nucleotide variant Congenital disorder of deglycosylation [RCV001504767] Chr3:25737443 [GRCh38]
Chr3:25778934 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1149+8A>G single nucleotide variant Congenital disorder of deglycosylation [RCV001476660] Chr3:25735996 [GRCh38]
Chr3:25777487 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.741C>T (p.Asn247=) single nucleotide variant Congenital disorder of deglycosylation [RCV001466649]|not provided [RCV001732186] Chr3:25739717 [GRCh38]
Chr3:25781208 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.954G>C (p.Leu318=) single nucleotide variant Congenital disorder of deglycosylation [RCV001424118] Chr3:25737383 [GRCh38]
Chr3:25778874 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.588T>G (p.Ala196=) single nucleotide variant Congenital disorder of deglycosylation [RCV001497820] Chr3:25751168 [GRCh38]
Chr3:25792659 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1875C>T (p.Val625=) single nucleotide variant Congenital disorder of deglycosylation [RCV001435455] Chr3:25719550 [GRCh38]
Chr3:25761041 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1164T>C (p.Thr388=) single nucleotide variant Congenital disorder of deglycosylation [RCV001432591] Chr3:25733968 [GRCh38]
Chr3:25775459 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1748G>A (p.Trp583Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV001386057] Chr3:25720055 [GRCh38]
Chr3:25761546 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1272T>C (p.Phe424=) single nucleotide variant Congenital disorder of deglycosylation [RCV001402060] Chr3:25732472 [GRCh38]
Chr3:25773963 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.904T>C (p.Leu302=) single nucleotide variant Congenital disorder of deglycosylation [RCV001443411] Chr3:25737433 [GRCh38]
Chr3:25778924 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1789+8T>C single nucleotide variant Congenital disorder of deglycosylation [RCV001407405] Chr3:25720006 [GRCh38]
Chr3:25761497 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1887C>T (p.His629=) single nucleotide variant Congenital disorder of deglycosylation [RCV001415916] Chr3:25719538 [GRCh38]
Chr3:25761029 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1426-1G>A single nucleotide variant Congenital disorder of deglycosylation [RCV001377043] Chr3:25729319 [GRCh38]
Chr3:25770810 [GRCh37]
Chr3:3p24.2
likely pathogenic
NM_001145294.2(NGLY1):c.6-4854G>A single nucleotide variant not provided [RCV001534308] Chr3:25783542 [GRCh38]
Chr3:25825033 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.384T>G (p.Pro128=) single nucleotide variant Congenital disorder of deglycosylation [RCV001436558] Chr3:25764174 [GRCh38]
Chr3:25805665 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.154A>C (p.Arg52=) single nucleotide variant Congenital disorder of deglycosylation [RCV001448311] Chr3:25778666 [GRCh38]
Chr3:25820157 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.881+10C>G single nucleotide variant Congenital disorder of deglycosylation [RCV001404242] Chr3:25739567 [GRCh38]
Chr3:25781058 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1789+174T>C single nucleotide variant not provided [RCV001575747] Chr3:25719840 [GRCh38]
Chr3:25761331 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.922C>T (p.Arg308Trp) single nucleotide variant Congenital disorder of deglycosylation [RCV002032517]|not provided [RCV001539925] Chr3:25737415 [GRCh38]
Chr3:25778906 [GRCh37]
Chr3:3p24.2
likely pathogenic|uncertain significance
NM_018297.4(NGLY1):c.1790-6T>C single nucleotide variant Congenital disorder of deglycosylation [RCV001496375] Chr3:25719641 [GRCh38]
Chr3:25761132 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1612-277A>T single nucleotide variant not provided [RCV001713664] Chr3:25720468 [GRCh38]
Chr3:25761959 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.1789+119dup duplication not provided [RCV001716238] Chr3:25719882..25719883 [GRCh38]
Chr3:25761373..25761374 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.131+10A>G single nucleotide variant Congenital disorder of deglycosylation [RCV001483575] Chr3:25783250 [GRCh38]
Chr3:25824741 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1038G>A (p.Gln346=) single nucleotide variant Congenital disorder of deglycosylation [RCV001469962] Chr3:25736115 [GRCh38]
Chr3:25777606 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.165G>T (p.Arg55=) single nucleotide variant Congenital disorder of deglycosylation [RCV001459768] Chr3:25778655 [GRCh38]
Chr3:25820146 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1008T>C (p.His336=) single nucleotide variant Congenital disorder of deglycosylation [RCV001456491] Chr3:25736145 [GRCh38]
Chr3:25777636 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.745T>C (p.Leu249=) single nucleotide variant Congenital disorder of deglycosylation [RCV001501203] Chr3:25739713 [GRCh38]
Chr3:25781204 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1260+110A>G single nucleotide variant not provided [RCV001716239] Chr3:25733762 [GRCh38]
Chr3:25775253 [GRCh37]
Chr3:3p24.2
benign
NM_001145294.2(NGLY1):c.-113C>T single nucleotide variant not provided [RCV001587533] Chr3:25789978 [GRCh38]
Chr3:25831469 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.492+257A>G single nucleotide variant not provided [RCV001675148] Chr3:25763809 [GRCh38]
Chr3:25805300 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.498T>G (p.Ala166=) single nucleotide variant Congenital disorder of deglycosylation [RCV001498731] Chr3:25751258 [GRCh38]
Chr3:25792749 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.801T>C (p.Ser267=) single nucleotide variant Congenital disorder of deglycosylation 1 [RCV002501678]|Congenital disorder of deglycosylation [RCV001489423] Chr3:25739657 [GRCh38]
Chr3:25781148 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1150-6T>C single nucleotide variant Congenital disorder of deglycosylation [RCV001495507] Chr3:25733988 [GRCh38]
Chr3:25775479 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.177del (p.Ala60fs) deletion Congenital disorder of deglycosylation [RCV001384997] Chr3:25778643 [GRCh38]
Chr3:25820134 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.750C>T (p.Cys250=) single nucleotide variant Congenital disorder of deglycosylation [RCV001506480] Chr3:25739708 [GRCh38]
Chr3:25781199 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1515del (p.Arg506fs) deletion Congenital disorder of deglycosylation [RCV001390877] Chr3:25729229 [GRCh38]
Chr3:25770720 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1449del (p.Cys484fs) deletion Congenital disorder of deglycosylation [RCV001381919] Chr3:25729295 [GRCh38]
Chr3:25770786 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.492+7T>C single nucleotide variant Congenital disorder of deglycosylation [RCV001505355] Chr3:25764059 [GRCh38]
Chr3:25805550 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1161C>T (p.Val387=) single nucleotide variant Congenital disorder of deglycosylation [RCV001438772] Chr3:25733971 [GRCh38]
Chr3:25775462 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.12G>A (p.Ala4=) single nucleotide variant Congenital disorder of deglycosylation [RCV001452569] Chr3:25783379 [GRCh38]
Chr3:25824870 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.493-19dup duplication Congenital disorder of deglycosylation [RCV001519905]|not provided [RCV001540220] Chr3:25751271..25751272 [GRCh38]
Chr3:25792762..25792763 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.783T>C (p.Asp261=) single nucleotide variant Congenital disorder of deglycosylation [RCV001479681]|not provided [RCV001587428] Chr3:25739675 [GRCh38]
Chr3:25781166 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1757G>T (p.Arg586Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV003108945] Chr3:25720046 [GRCh38]
Chr3:25761537 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1150-37A>G single nucleotide variant not provided [RCV001733474] Chr3:25734019 [GRCh38]
Chr3:25775510 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1109G>A (p.Gly370Asp) single nucleotide variant not provided [RCV001753927] Chr3:25736044 [GRCh38]
Chr3:25777535 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.413C>G (p.Pro138Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV001885045]|not provided [RCV001769197] Chr3:25764145 [GRCh38]
Chr3:25805636 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.32G>C (p.Gly11Ala) single nucleotide variant not provided [RCV001756787] Chr3:25783359 [GRCh38]
Chr3:25824850 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1956T>A (p.Ser652Arg) single nucleotide variant not provided [RCV001752456] Chr3:25719469 [GRCh38]
Chr3:25760960 [GRCh37]
Chr3:3p24.2
uncertain significance
NC_000003.11:g.(25761683_25770623)_(25792755_25805556)dup duplication not specified [RCV001797935] Chr3:25770623..25792755 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs) deletion Congenital disorder of deglycosylation 1 [RCV003147674]|Congenital disorder of deglycosylation [RCV003741278] Chr3:25720018..25720039 [GRCh38]
Chr3:25761509..25761530 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic
NM_018297.4(NGLY1):c.1780C>T (p.Leu594=) single nucleotide variant not provided [RCV001816340] Chr3:25720023 [GRCh38]
Chr3:25761514 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1358del (p.Gly453fs) deletion Congenital disorder of deglycosylation [RCV001807983] Chr3:25732386 [GRCh38]
Chr3:25773877 [GRCh37]
Chr3:3p24.2
likely pathogenic
NM_018297.4(NGLY1):c.571C>T (p.Gln191Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV001821867] Chr3:25751185 [GRCh38]
Chr3:25792676 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.988G>A (p.Val330Ile) single nucleotide variant Congenital disorder of deglycosylation [RCV002009035] Chr3:25737349 [GRCh38]
Chr3:25778840 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.661A>G (p.Ile221Val) single nucleotide variant Congenital disorder of deglycosylation [RCV001914849] Chr3:25739797 [GRCh38]
Chr3:25781288 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.424C>A (p.Pro142Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV001971046] Chr3:25764134 [GRCh38]
Chr3:25805625 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.341A>C (p.Asp114Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV001950538] Chr3:25764217 [GRCh38]
Chr3:25805708 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.968T>C (p.Val323Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV002025833] Chr3:25737369 [GRCh38]
Chr3:25778860 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.997dup (p.Tyr333fs) duplication Congenital disorder of deglycosylation [RCV001896433] Chr3:25737339..25737340 [GRCh38]
Chr3:25778830..25778831 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1414A>G (p.Met472Val) single nucleotide variant Congenital disorder of deglycosylation [RCV001913116] Chr3:25732330 [GRCh38]
Chr3:25773821 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.658+6A>G single nucleotide variant Congenital disorder of deglycosylation [RCV001873988] Chr3:25751092 [GRCh38]
Chr3:25792583 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1612-3T>C single nucleotide variant Congenital disorder of deglycosylation [RCV002004500] Chr3:25720194 [GRCh38]
Chr3:25761685 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.205A>G (p.Arg69Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001970273] Chr3:25778615 [GRCh38]
Chr3:25820106 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1808A>T (p.Tyr603Phe) single nucleotide variant Congenital disorder of deglycosylation [RCV001914766] Chr3:25719617 [GRCh38]
Chr3:25761108 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1300C>T (p.Leu434Phe) single nucleotide variant Congenital disorder of deglycosylation [RCV001988054] Chr3:25732444 [GRCh38]
Chr3:25773935 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.404C>T (p.Pro135Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV001965546] Chr3:25764154 [GRCh38]
Chr3:25805645 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.131+12C>T single nucleotide variant Congenital disorder of deglycosylation [RCV002007335] Chr3:25783248 [GRCh38]
Chr3:25824739 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.27C>G (p.Ser9=) single nucleotide variant Congenital disorder of deglycosylation [RCV002007269] Chr3:25783364 [GRCh38]
Chr3:25824855 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.344G>C (p.Gly115Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV002044577] Chr3:25764214 [GRCh38]
Chr3:25805705 [GRCh37]
Chr3:3p24.2
uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
NM_018297.4(NGLY1):c.1309A>G (p.Ile437Val) single nucleotide variant Congenital disorder of deglycosylation [RCV001983324] Chr3:25732435 [GRCh38]
Chr3:25773926 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.341A>T (p.Asp114Val) single nucleotide variant Congenital disorder of deglycosylation [RCV001983419] Chr3:25764217 [GRCh38]
Chr3:25805708 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.542A>T (p.His181Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV001908847]|Inborn genetic diseases [RCV002555314] Chr3:25751214 [GRCh38]
Chr3:25792705 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.391A>G (p.Ser131Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001893200] Chr3:25764167 [GRCh38]
Chr3:25805658 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.259C>G (p.Leu87Val) single nucleotide variant Congenital disorder of deglycosylation [RCV002004795] Chr3:25764299 [GRCh38]
Chr3:25805790 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.460G>A (p.Gly154Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV001965465] Chr3:25764098 [GRCh38]
Chr3:25805589 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1A>G (p.Met1Val) single nucleotide variant Congenital disorder of deglycosylation [RCV001869870]|not specified [RCV001844706] Chr3:25783390 [GRCh38]
Chr3:25824881 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.-17_12dup (p.Ala5fs) duplication Congenital disorder of deglycosylation [RCV002044231] Chr3:25783378..25783379 [GRCh38]
Chr3:25824869..25824870 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.461G>A (p.Gly154Glu) single nucleotide variant Congenital disorder of deglycosylation [RCV001986963] Chr3:25764097 [GRCh38]
Chr3:25805588 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.333C>A (p.Ser111Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV001894960] Chr3:25764225 [GRCh38]
Chr3:25805716 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.463C>A (p.Gln155Lys) single nucleotide variant Congenital disorder of deglycosylation [RCV002043122] Chr3:25764095 [GRCh38]
Chr3:25805586 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1952_1953delinsAG (p.Phe651Ter) indel Congenital disorder of deglycosylation [RCV002041486] Chr3:25719472..25719473 [GRCh38]
Chr3:25760963..25760964 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.137C>A (p.Pro46His) single nucleotide variant Congenital disorder of deglycosylation [RCV002043187] Chr3:25778683 [GRCh38]
Chr3:25820174 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.-18_14dup (p.Leu6fs) duplication Congenital disorder of deglycosylation 1 [RCV002486660]|Congenital disorder of deglycosylation [RCV002004318]|Inborn genetic diseases [RCV002545467] Chr3:25783376..25783377 [GRCh38]
Chr3:25824867..25824868 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1714AGT[1] (p.Ser573del) microsatellite Congenital disorder of deglycosylation [RCV001913435] Chr3:25720084..25720086 [GRCh38]
Chr3:25761575..25761577 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.544G>C (p.Val182Leu) single nucleotide variant not specified [RCV001844707] Chr3:25751212 [GRCh38]
Chr3:25792703 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1612-4A>G single nucleotide variant Congenital disorder of deglycosylation [RCV001982757] Chr3:25720195 [GRCh38]
Chr3:25761686 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.199C>T (p.Pro67Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV001912810] Chr3:25778621 [GRCh38]
Chr3:25820112 [GRCh37]
Chr3:3p24.2
uncertain significance
GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140) copy number loss not specified [RCV002053334] Chr3:25045365..32691140 [GRCh37]
Chr3:3p24.2-22.3
likely pathogenic
NM_018297.4(NGLY1):c.1260+14_1260+17del deletion Congenital disorder of deglycosylation [RCV002007146] Chr3:25733855..25733858 [GRCh38]
Chr3:25775346..25775349 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1135T>A (p.Phe379Ile) single nucleotide variant Congenital disorder of deglycosylation [RCV001948585] Chr3:25736018 [GRCh38]
Chr3:25777509 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1625G>T (p.Arg542Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV002038062] Chr3:25720178 [GRCh38]
Chr3:25761669 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.-18GCCCGCTGGCGCTCAAGCATGGCGGCGGCGGC[3] (p.Leu6fs) microsatellite Congenital disorder of deglycosylation [RCV001887334] Chr3:25783376..25783377 [GRCh38]
Chr3:25824867..25824868 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.821G>A (p.Gly274Asp) single nucleotide variant Congenital disorder of deglycosylation [RCV001981521] Chr3:25739637 [GRCh38]
Chr3:25781128 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.8C>T (p.Ala3Val) single nucleotide variant Congenital disorder of deglycosylation [RCV002000690] Chr3:25783383 [GRCh38]
Chr3:25824874 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1235A>G (p.Asp412Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV002034245] Chr3:25733897 [GRCh38]
Chr3:25775388 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1635A>T (p.Gly545=) single nucleotide variant Congenital disorder of deglycosylation [RCV001877645] Chr3:25720168 [GRCh38]
Chr3:25761659 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.773G>T (p.Arg258Met) single nucleotide variant Congenital disorder of deglycosylation [RCV001922333] Chr3:25739685 [GRCh38]
Chr3:25781176 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.485C>G (p.Ala162Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001981962] Chr3:25764073 [GRCh38]
Chr3:25805564 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.305G>A (p.Arg102His) single nucleotide variant Congenital disorder of deglycosylation [RCV001944193] Chr3:25764253 [GRCh38]
Chr3:25805744 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.11C>T (p.Ala4Val) single nucleotide variant Congenital disorder of deglycosylation [RCV002048414] Chr3:25783380 [GRCh38]
Chr3:25824871 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.407C>G (p.Thr136Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV001886760] Chr3:25764151 [GRCh38]
Chr3:25805642 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.948_949insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGGCCAATTGTTTT (p.Thr317delinsPhePhePhePhePhePheXaaXaaXaaXaaAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer) microsatellite Congenital disorder of deglycosylation [RCV001940776] Chr3:25737388..25737389 [GRCh38]
Chr3:25778879..25778880 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1838T>C (p.Ile613Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV001887821] Chr3:25719587 [GRCh38]
Chr3:25761078 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1551G>A (p.Trp517Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV001883252] Chr3:25729193 [GRCh38]
Chr3:25770684 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.774G>T (p.Arg258Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV001943370] Chr3:25739684 [GRCh38]
Chr3:25781175 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.599T>G (p.Val200Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001915777] Chr3:25751157 [GRCh38]
Chr3:25792648 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.530C>T (p.Ser177Phe) single nucleotide variant Congenital disorder of deglycosylation [RCV001937812] Chr3:25751226 [GRCh38]
Chr3:25792717 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1474C>T (p.Gln492Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV001942125] Chr3:25729270 [GRCh38]
Chr3:25770761 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1441T>G (p.Phe481Val) single nucleotide variant Congenital disorder of deglycosylation [RCV001885631] Chr3:25729303 [GRCh38]
Chr3:25770794 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.535A>G (p.Ile179Val) single nucleotide variant Congenital disorder of deglycosylation [RCV001930573] Chr3:25751221 [GRCh38]
Chr3:25792712 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1063T>C (p.Cys355Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV002035527] Chr3:25736090 [GRCh38]
Chr3:25777581 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1263G>T (p.Arg421Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV001962755] Chr3:25732481 [GRCh38]
Chr3:25773972 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1615T>C (p.Tyr539His) single nucleotide variant Congenital disorder of deglycosylation [RCV002001122] Chr3:25720188 [GRCh38]
Chr3:25761679 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1168C>T (p.Arg390Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV001972519] Chr3:25733964 [GRCh38]
Chr3:25775455 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.916T>C (p.Cys306Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV001918988] Chr3:25737421 [GRCh38]
Chr3:25778912 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1425+6del deletion Congenital disorder of deglycosylation [RCV001996107] Chr3:25732313 [GRCh38]
Chr3:25773804 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1756C>G (p.Arg586Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV001870323] Chr3:25720047 [GRCh38]
Chr3:25761538 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.492G>A (p.Thr164=) single nucleotide variant Congenital disorder of deglycosylation [RCV001922424] Chr3:25764066 [GRCh38]
Chr3:25805557 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1629G>T (p.Lys543Asn) single nucleotide variant Congenital disorder of deglycosylation [RCV001882323] Chr3:25720174 [GRCh38]
Chr3:25761665 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.634T>C (p.Ser212Pro) single nucleotide variant Congenital disorder of deglycosylation [RCV001932710] Chr3:25751122 [GRCh38]
Chr3:25792613 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1342A>C (p.Lys448Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV002011957] Chr3:25732402 [GRCh38]
Chr3:25773893 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1660A>G (p.Lys554Glu) single nucleotide variant Congenital disorder of deglycosylation [RCV001990248] Chr3:25720143 [GRCh38]
Chr3:25761634 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.877C>G (p.Pro293Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV001881793] Chr3:25739581 [GRCh38]
Chr3:25781072 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1790-7C>G single nucleotide variant Congenital disorder of deglycosylation [RCV001954763] Chr3:25719642 [GRCh38]
Chr3:25761133 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.1364T>A (p.Leu455His) single nucleotide variant Congenital disorder of deglycosylation [RCV001900907] Chr3:25732380 [GRCh38]
Chr3:25773871 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.780A>T (p.Arg260Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV001973497] Chr3:25739678 [GRCh38]
Chr3:25781169 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.659-6T>G single nucleotide variant Congenital disorder of deglycosylation [RCV001866915] Chr3:25739805 [GRCh38]
Chr3:25781296 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1722_1723insCA (p.Thr575fs) insertion Congenital disorder of deglycosylation [RCV001993184] Chr3:25720080..25720081 [GRCh38]
Chr3:25761571..25761572 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.749G>A (p.Cys250Tyr) single nucleotide variant Congenital disorder of deglycosylation [RCV001937452] Chr3:25739709 [GRCh38]
Chr3:25781200 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.-18_14del (p.Met1fs) deletion Congenital disorder of deglycosylation [RCV001976275]|not provided [RCV003151876] Chr3:25783377..25783408 [GRCh38]
Chr3:25824868..25824899 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1431_1435del (p.Lys477fs) microsatellite Congenital disorder of deglycosylation [RCV001921089] Chr3:25729309..25729313 [GRCh38]
Chr3:25770800..25770804 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.371C>T (p.Ser124Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV001878466] Chr3:25764187 [GRCh38]
Chr3:25805678 [GRCh37]
Chr3:3p24.2
uncertain significance
NC_000003.11:g.(?_25820045)_(25824881_?)dup duplication Congenital disorder of deglycosylation [RCV001919014] Chr3:25820045..25824881 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.493-19T>G single nucleotide variant Congenital disorder of deglycosylation [RCV001884430] Chr3:25751282 [GRCh38]
Chr3:25792773 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.1490A>G (p.Tyr497Cys) single nucleotide variant Congenital disorder of deglycosylation [RCV001995712] Chr3:25729254 [GRCh38]
Chr3:25770745 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.38C>T (p.Ala13Val) single nucleotide variant Congenital disorder of deglycosylation [RCV001922576] Chr3:25783353 [GRCh38]
Chr3:25824844 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.41C>A (p.Ser14Tyr) single nucleotide variant Congenital disorder of deglycosylation [RCV001998850] Chr3:25783350 [GRCh38]
Chr3:25824841 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.246+17A>T single nucleotide variant Congenital disorder of deglycosylation [RCV001906500] Chr3:25778557 [GRCh38]
Chr3:25820048 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.1150-7_1150-4del deletion Congenital disorder of deglycosylation [RCV002025977] Chr3:25733986..25733989 [GRCh38]
Chr3:25775477..25775480 [GRCh37]
Chr3:3p24.2
likely benign|uncertain significance
NM_018297.4(NGLY1):c.538C>G (p.Gln180Glu) single nucleotide variant Congenital disorder of deglycosylation [RCV001935623] Chr3:25751218 [GRCh38]
Chr3:25792709 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1736G>C (p.Gly579Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV002015051] Chr3:25720067 [GRCh38]
Chr3:25761558 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1799T>C (p.Leu600Pro) single nucleotide variant Congenital disorder of deglycosylation [RCV001917608] Chr3:25719626 [GRCh38]
Chr3:25761117 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.904_905del (p.Leu302fs) deletion Congenital disorder of deglycosylation [RCV001975014] Chr3:25737432..25737433 [GRCh38]
Chr3:25778923..25778924 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1507C>T (p.Arg503Cys) single nucleotide variant Congenital disorder of deglycosylation [RCV002050344] Chr3:25729237 [GRCh38]
Chr3:25770728 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.826A>G (p.Lys276Glu) single nucleotide variant Congenital disorder of deglycosylation [RCV001905408] Chr3:25739632 [GRCh38]
Chr3:25781123 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1398A>T (p.Arg466Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV001939714] Chr3:25732346 [GRCh38]
Chr3:25773837 [GRCh37]
Chr3:3p24.2
uncertain significance
NC_000003.11:g.(?_16710965)_(41275270_?)del deletion not provided [RCV001958625] Chr3:16710965..41275270 [GRCh37]
Chr3:3p24.3-22.1
pathogenic
NM_018297.4(NGLY1):c.52G>T (p.Ala18Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV002026046] Chr3:25783339 [GRCh38]
Chr3:25824830 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1804T>C (p.Ser602Pro) single nucleotide variant Congenital disorder of deglycosylation [RCV001978681]|not provided [RCV002511118] Chr3:25719621 [GRCh38]
Chr3:25761112 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.464A>G (p.Gln155Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV001904174] Chr3:25764094 [GRCh38]
Chr3:25805585 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.132-19A>G single nucleotide variant Congenital disorder of deglycosylation [RCV001975811] Chr3:25778707 [GRCh38]
Chr3:25820198 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.45G>A (p.Pro15=) single nucleotide variant Congenital disorder of deglycosylation [RCV002029975] Chr3:25783346 [GRCh38]
Chr3:25824837 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1567A>G (p.Lys523Glu) single nucleotide variant Congenital disorder of deglycosylation [RCV001903056] Chr3:25729177 [GRCh38]
Chr3:25770668 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.658+5T>C single nucleotide variant Congenital disorder of deglycosylation [RCV001917412] Chr3:25751093 [GRCh38]
Chr3:25792584 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.381A>G (p.Gln127=) single nucleotide variant Congenital disorder of deglycosylation [RCV002208278] Chr3:25764177 [GRCh38]
Chr3:25805668 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.198G>A (p.Leu66=) single nucleotide variant Congenital disorder of deglycosylation [RCV002088898] Chr3:25778622 [GRCh38]
Chr3:25820113 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.881+12G>C single nucleotide variant Congenital disorder of deglycosylation [RCV002071724] Chr3:25739565 [GRCh38]
Chr3:25781056 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1353A>G (p.Lys451=) single nucleotide variant Congenital disorder of deglycosylation [RCV002188044] Chr3:25732391 [GRCh38]
Chr3:25773882 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.414A>G (p.Pro138=) single nucleotide variant Congenital disorder of deglycosylation [RCV002130656] Chr3:25764144 [GRCh38]
Chr3:25805635 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.789A>G (p.Ser263=) single nucleotide variant Congenital disorder of deglycosylation [RCV002187616] Chr3:25739669 [GRCh38]
Chr3:25781160 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1933T>C (p.Leu645=) single nucleotide variant Congenital disorder of deglycosylation [RCV002192104] Chr3:25719492 [GRCh38]
Chr3:25760983 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.132-11T>C single nucleotide variant Congenital disorder of deglycosylation [RCV002147675] Chr3:25778699 [GRCh38]
Chr3:25820190 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.480A>G (p.Pro160=) single nucleotide variant Congenital disorder of deglycosylation [RCV002166836] Chr3:25764078 [GRCh38]
Chr3:25805569 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.247-18T>A single nucleotide variant Congenital disorder of deglycosylation [RCV002185228] Chr3:25764329 [GRCh38]
Chr3:25805820 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1612-10C>T single nucleotide variant Congenital disorder of deglycosylation [RCV002129365] Chr3:25720201 [GRCh38]
Chr3:25761692 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1260+17T>C single nucleotide variant Congenital disorder of deglycosylation [RCV002170079] Chr3:25733855 [GRCh38]
Chr3:25775346 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.493-5dup duplication Congenital disorder of deglycosylation [RCV002091594] Chr3:25751267..25751268 [GRCh38]
Chr3:25792758..25792759 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1161C>A (p.Val387=) single nucleotide variant Congenital disorder of deglycosylation [RCV002096723] Chr3:25733971 [GRCh38]
Chr3:25775462 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.247-18dup duplication Congenital disorder of deglycosylation [RCV002132079] Chr3:25764328..25764329 [GRCh38]
Chr3:25805819..25805820 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.882-18T>C single nucleotide variant Congenital disorder of deglycosylation [RCV002196698] Chr3:25737473 [GRCh38]
Chr3:25778964 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1790-12T>C single nucleotide variant Congenital disorder of deglycosylation [RCV002150752] Chr3:25719647 [GRCh38]
Chr3:25761138 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.156A>G (p.Arg52=) single nucleotide variant Congenital disorder of deglycosylation [RCV002095323] Chr3:25778664 [GRCh38]
Chr3:25820155 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1752A>G (p.Lys584=) single nucleotide variant Congenital disorder of deglycosylation [RCV002076161] Chr3:25720051 [GRCh38]
Chr3:25761542 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.126C>T (p.Ile42=) single nucleotide variant Congenital disorder of deglycosylation [RCV002134030] Chr3:25783265 [GRCh38]
Chr3:25824756 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1790-12dup duplication Congenital disorder of deglycosylation [RCV002148245] Chr3:25719646..25719647 [GRCh38]
Chr3:25761137..25761138 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.658+20A>T single nucleotide variant Congenital disorder of deglycosylation [RCV002153537] Chr3:25751078 [GRCh38]
Chr3:25792569 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1611+17A>C single nucleotide variant Congenital disorder of deglycosylation [RCV002113045] Chr3:25729116 [GRCh38]
Chr3:25770607 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1611+11G>A single nucleotide variant Congenital disorder of deglycosylation [RCV002187672] Chr3:25729122 [GRCh38]
Chr3:25770613 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1614A>G (p.Val538=) single nucleotide variant Congenital disorder of deglycosylation [RCV002114229] Chr3:25720189 [GRCh38]
Chr3:25761680 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.453C>T (p.Asn151=) single nucleotide variant Congenital disorder of deglycosylation [RCV002078747] Chr3:25764105 [GRCh38]
Chr3:25805596 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.834G>T (p.Val278=) single nucleotide variant Congenital disorder of deglycosylation [RCV002133075] Chr3:25739624 [GRCh38]
Chr3:25781115 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.405T>C (p.Pro135=) single nucleotide variant Congenital disorder of deglycosylation [RCV002168661] Chr3:25764153 [GRCh38]
Chr3:25805644 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.567T>C (p.Ala189=) single nucleotide variant Congenital disorder of deglycosylation [RCV002147455] Chr3:25751189 [GRCh38]
Chr3:25792680 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1426-13C>T single nucleotide variant Congenital disorder of deglycosylation [RCV002212149] Chr3:25729331 [GRCh38]
Chr3:25770822 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1790-12del deletion Congenital disorder of deglycosylation [RCV002215156]|not specified [RCV003120810] Chr3:25719647 [GRCh38]
Chr3:25761138 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.246+8T>C single nucleotide variant Congenital disorder of deglycosylation [RCV002112710] Chr3:25778566 [GRCh38]
Chr3:25820057 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.108C>T (p.Leu36=) single nucleotide variant Congenital disorder of deglycosylation [RCV002193057] Chr3:25783283 [GRCh38]
Chr3:25824774 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1806C>T (p.Ser602=) single nucleotide variant Congenital disorder of deglycosylation [RCV002094112] Chr3:25719619 [GRCh38]
Chr3:25761110 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.246+15G>A single nucleotide variant Congenital disorder of deglycosylation [RCV002108217] Chr3:25778559 [GRCh38]
Chr3:25820050 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1122C>T (p.Ser374=) single nucleotide variant Congenital disorder of deglycosylation [RCV002131576] Chr3:25736031 [GRCh38]
Chr3:25777522 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1776A>G (p.Val592=) single nucleotide variant Congenital disorder of deglycosylation [RCV002155562] Chr3:25720027 [GRCh38]
Chr3:25761518 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.960C>T (p.Cys320=) single nucleotide variant Congenital disorder of deglycosylation [RCV002199592] Chr3:25737377 [GRCh38]
Chr3:25778868 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1563G>T (p.Val521=) single nucleotide variant Congenital disorder of deglycosylation [RCV002121517] Chr3:25729181 [GRCh38]
Chr3:25770672 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1789+14T>G single nucleotide variant Congenital disorder of deglycosylation [RCV002156453] Chr3:25720000 [GRCh38]
Chr3:25761491 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.465G>A (p.Gln155=) single nucleotide variant Congenital disorder of deglycosylation [RCV002158385] Chr3:25764093 [GRCh38]
Chr3:25805584 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.247-13T>G single nucleotide variant Congenital disorder of deglycosylation [RCV002204280] Chr3:25764324 [GRCh38]
Chr3:25805815 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1260+7T>C single nucleotide variant Congenital disorder of deglycosylation [RCV002219610] Chr3:25733865 [GRCh38]
Chr3:25775356 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1425+20A>G single nucleotide variant Congenital disorder of deglycosylation [RCV002140837] Chr3:25732299 [GRCh38]
Chr3:25773790 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.882-14del deletion Congenital disorder of deglycosylation [RCV002179079] Chr3:25737469 [GRCh38]
Chr3:25778960 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.1050G>A (p.Leu350=) single nucleotide variant Congenital disorder of deglycosylation [RCV002175500] Chr3:25736103 [GRCh38]
Chr3:25777594 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1168C>A (p.Arg390=) single nucleotide variant Congenital disorder of deglycosylation [RCV002138021] Chr3:25733964 [GRCh38]
Chr3:25775455 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1612-15C>A single nucleotide variant Congenital disorder of deglycosylation [RCV002099415] Chr3:25720206 [GRCh38]
Chr3:25761697 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.1004-15C>T single nucleotide variant Congenital disorder of deglycosylation [RCV002162773] Chr3:25736164 [GRCh38]
Chr3:25777655 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.132-15T>G single nucleotide variant Congenital disorder of deglycosylation [RCV002162774] Chr3:25778703 [GRCh38]
Chr3:25820194 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.48C>T (p.Ala16=) single nucleotide variant Congenital disorder of deglycosylation [RCV002159095] Chr3:25783343 [GRCh38]
Chr3:25824834 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1302C>T (p.Leu434=) single nucleotide variant Congenital disorder of deglycosylation [RCV002154751] Chr3:25732442 [GRCh38]
Chr3:25773933 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1426-20A>G single nucleotide variant Congenital disorder of deglycosylation [RCV002155508] Chr3:25729338 [GRCh38]
Chr3:25770829 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1767A>G (p.Thr589=) single nucleotide variant Congenital disorder of deglycosylation [RCV002220754] Chr3:25720036 [GRCh38]
Chr3:25761527 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.493-14T>C single nucleotide variant Congenital disorder of deglycosylation [RCV002121755] Chr3:25751277 [GRCh38]
Chr3:25792768 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.16T>C (p.Leu6=) single nucleotide variant Congenital disorder of deglycosylation [RCV002119995] Chr3:25783375 [GRCh38]
Chr3:25824866 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1790-18T>A single nucleotide variant Congenital disorder of deglycosylation [RCV002118296] Chr3:25719653 [GRCh38]
Chr3:25761144 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.881+10C>T single nucleotide variant Congenital disorder of deglycosylation [RCV002158498] Chr3:25739567 [GRCh38]
Chr3:25781058 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.246+13A>C single nucleotide variant Congenital disorder of deglycosylation [RCV002143847] Chr3:25778561 [GRCh38]
Chr3:25820052 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1003+20C>A single nucleotide variant Congenital disorder of deglycosylation [RCV002124214] Chr3:25737314 [GRCh38]
Chr3:25778805 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.493-9T>C single nucleotide variant Congenital disorder of deglycosylation [RCV002217737] Chr3:25751272 [GRCh38]
Chr3:25792763 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.159C>T (p.Ser53=) single nucleotide variant Congenital disorder of deglycosylation [RCV002180173] Chr3:25778661 [GRCh38]
Chr3:25820152 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1482C>T (p.His494=) single nucleotide variant Congenital disorder of deglycosylation [RCV002184491] Chr3:25729262 [GRCh38]
Chr3:25770753 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1260+14A>G single nucleotide variant Congenital disorder of deglycosylation [RCV002142744] Chr3:25733858 [GRCh38]
Chr3:25775349 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1244A>T (p.Asn415Ile) single nucleotide variant Congenital disorder of deglycosylation [RCV003115014] Chr3:25733888 [GRCh38]
Chr3:25775379 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.66G>C (p.Gln22His) single nucleotide variant Congenital disorder of deglycosylation [RCV003121812] Chr3:25783325 [GRCh38]
Chr3:25824816 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1192del (p.Glu397_Val398insTer) deletion Congenital disorder of deglycosylation [RCV003123511] Chr3:25733940 [GRCh38]
Chr3:25775431 [GRCh37]
Chr3:3p24.2
pathogenic|likely pathogenic
NM_018297.4(NGLY1):c.247-17A>G single nucleotide variant Congenital disorder of deglycosylation [RCV003121588] Chr3:25764328 [GRCh38]
Chr3:25805819 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.710T>C (p.Phe237Ser) single nucleotide variant Neurodevelopmental delay [RCV002274358] Chr3:25739748 [GRCh38]
Chr3:25781239 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1168C>G (p.Arg390Gly) single nucleotide variant Congenital disorder of deglycosylation 1 [RCV002283834] Chr3:25733964 [GRCh38]
Chr3:25775455 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.490dup (p.Thr164fs) duplication Congenital disorder of deglycosylation 1 [RCV002283973] Chr3:25764067..25764068 [GRCh38]
Chr3:25805558..25805559 [GRCh37]
Chr3:3p24.2
likely pathogenic
NM_018297.4(NGLY1):c.376C>T (p.Gln126Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003236264] Chr3:25764182 [GRCh38]
Chr3:25805673 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.659-1G>A single nucleotide variant not provided [RCV002281639] Chr3:25739800 [GRCh38]
Chr3:25781291 [GRCh37]
Chr3:3p24.2
not provided
NM_018297.4(NGLY1):c.206G>T (p.Arg69Ile) single nucleotide variant Congenital disorder of deglycosylation [RCV002297521] Chr3:25778614 [GRCh38]
Chr3:25820105 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1612-34A>G single nucleotide variant not specified [RCV003230797] Chr3:25720225 [GRCh38]
Chr3:25761716 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.425C>T (p.Pro142Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV002304432] Chr3:25764133 [GRCh38]
Chr3:25805624 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1114A>G (p.Lys372Glu) single nucleotide variant Congenital disorder of deglycosylation [RCV002302253] Chr3:25736039 [GRCh38]
Chr3:25777530 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.542A>G (p.His181Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV002301288] Chr3:25751214 [GRCh38]
Chr3:25792705 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1736del (p.Gly579fs) deletion Congenital disorder of deglycosylation [RCV002970806] Chr3:25720067 [GRCh38]
Chr3:25761558 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.891C>A (p.Asn297Lys) single nucleotide variant Congenital disorder of deglycosylation [RCV003014309] Chr3:25737446 [GRCh38]
Chr3:25778937 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.30A>T (p.Ser10=) single nucleotide variant Congenital disorder of deglycosylation [RCV002816385] Chr3:25783361 [GRCh38]
Chr3:25824852 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.215T>C (p.Val72Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV002842000] Chr3:25778605 [GRCh38]
Chr3:25820096 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1191G>A (p.Glu397=) single nucleotide variant Congenital disorder of deglycosylation [RCV002996901] Chr3:25733941 [GRCh38]
Chr3:25775432 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1203A>G (p.Arg401=) single nucleotide variant Congenital disorder of deglycosylation [RCV002904684] Chr3:25733929 [GRCh38]
Chr3:25775420 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1561G>A (p.Val521Met) single nucleotide variant Congenital disorder of deglycosylation [RCV002636096] Chr3:25729183 [GRCh38]
Chr3:25770674 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1149+10A>T single nucleotide variant Congenital disorder of deglycosylation [RCV002838282] Chr3:25735994 [GRCh38]
Chr3:25777485 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.385G>A (p.Ala129Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV002731637] Chr3:25764173 [GRCh38]
Chr3:25805664 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1882del (p.Gln628fs) deletion Congenital disorder of deglycosylation [RCV002839251] Chr3:25719543 [GRCh38]
Chr3:25761034 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.430G>A (p.Gly144Arg) single nucleotide variant Inborn genetic diseases [RCV002749138] Chr3:25764128 [GRCh38]
Chr3:25805619 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1552G>C (p.Glu518Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV002730555] Chr3:25729192 [GRCh38]
Chr3:25770683 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1894C>G (p.Leu632Val) single nucleotide variant Congenital disorder of deglycosylation [RCV002838606] Chr3:25719531 [GRCh38]
Chr3:25761022 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1756C>T (p.Arg586Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003111692]|Inborn genetic diseases [RCV002864007] Chr3:25720047 [GRCh38]
Chr3:25761538 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.881+17G>A single nucleotide variant Congenital disorder of deglycosylation [RCV002996323] Chr3:25739560 [GRCh38]
Chr3:25781051 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.492+8del deletion Congenital disorder of deglycosylation [RCV002800253] Chr3:25764058 [GRCh38]
Chr3:25805549 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.659-10A>T single nucleotide variant Congenital disorder of deglycosylation [RCV002848434] Chr3:25739809 [GRCh38]
Chr3:25781300 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1293A>G (p.Lys431=) single nucleotide variant Congenital disorder of deglycosylation [RCV002622182] Chr3:25732451 [GRCh38]
Chr3:25773942 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1260+20T>C single nucleotide variant Congenital disorder of deglycosylation [RCV003054136] Chr3:25733852 [GRCh38]
Chr3:25775343 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1950A>G (p.Lys650=) single nucleotide variant Congenital disorder of deglycosylation [RCV002871231] Chr3:25719475 [GRCh38]
Chr3:25760966 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.787T>C (p.Ser263Pro) single nucleotide variant Congenital disorder of deglycosylation [RCV002825112] Chr3:25739671 [GRCh38]
Chr3:25781162 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1611+1G>C single nucleotide variant Congenital disorder of deglycosylation [RCV002928151] Chr3:25729132 [GRCh38]
Chr3:25770623 [GRCh37]
Chr3:3p24.2
likely pathogenic
NM_018297.4(NGLY1):c.961C>A (p.Arg321=) single nucleotide variant Congenital disorder of deglycosylation [RCV002637277] Chr3:25737376 [GRCh38]
Chr3:25778867 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1044G>C (p.Arg348=) single nucleotide variant Congenital disorder of deglycosylation [RCV002867353] Chr3:25736109 [GRCh38]
Chr3:25777600 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.236del (p.Gly79fs) deletion Congenital disorder of deglycosylation [RCV003036530] Chr3:25778584 [GRCh38]
Chr3:25820075 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1917C>T (p.Asp639=) single nucleotide variant Congenital disorder of deglycosylation [RCV002820287] Chr3:25719508 [GRCh38]
Chr3:25760999 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1731G>C (p.Gln577His) single nucleotide variant Congenital disorder of deglycosylation [RCV003036106] Chr3:25720072 [GRCh38]
Chr3:25761563 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1725T>G (p.Thr575=) single nucleotide variant Congenital disorder of deglycosylation [RCV002870904] Chr3:25720078 [GRCh38]
Chr3:25761569 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1347C>T (p.Thr449=) single nucleotide variant Congenital disorder of deglycosylation [RCV002622088] Chr3:25732397 [GRCh38]
Chr3:25773888 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1261-15A>T single nucleotide variant Congenital disorder of deglycosylation [RCV002923417] Chr3:25732498 [GRCh38]
Chr3:25773989 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.14_15insGCCCGCTGGCGCTCAAGCATGGCGGCGGCGGCGGC (p.Leu6fs) microsatellite Congenital disorder of deglycosylation [RCV002695411] Chr3:25783376..25783377 [GRCh38]
Chr3:25824867..25824868 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.587C>A (p.Ala196Asp) single nucleotide variant Congenital disorder of deglycosylation [RCV003018176] Chr3:25751169 [GRCh38]
Chr3:25792660 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1848A>G (p.Ala616=) single nucleotide variant Congenital disorder of deglycosylation [RCV002760953] Chr3:25719577 [GRCh38]
Chr3:25761068 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.5C>T (p.Ala2Val) single nucleotide variant Inborn genetic diseases [RCV002869479] Chr3:25783386 [GRCh38]
Chr3:25824877 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.78G>C (p.Glu26Asp) single nucleotide variant Congenital disorder of deglycosylation [RCV002824597] Chr3:25783313 [GRCh38]
Chr3:25824804 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.795G>T (p.Leu265=) single nucleotide variant Congenital disorder of deglycosylation [RCV003038827] Chr3:25739663 [GRCh38]
Chr3:25781154 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.467C>T (p.Ser156Leu) single nucleotide variant Congenital disorder of deglycosylation [RCV002805382] Chr3:25764091 [GRCh38]
Chr3:25805582 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1110C>A (p.Gly370=) single nucleotide variant Congenital disorder of deglycosylation [RCV002791429] Chr3:25736043 [GRCh38]
Chr3:25777534 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.255A>C (p.Thr85=) single nucleotide variant Congenital disorder of deglycosylation [RCV003023525] Chr3:25764303 [GRCh38]
Chr3:25805794 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.78G>T (p.Glu26Asp) single nucleotide variant Congenital disorder of deglycosylation [RCV002982277] Chr3:25783313 [GRCh38]
Chr3:25824804 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1536A>C (p.Gln512His) single nucleotide variant Inborn genetic diseases [RCV002826249] Chr3:25729208 [GRCh38]
Chr3:25770699 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.153T>C (p.Tyr51=) single nucleotide variant Congenital disorder of deglycosylation [RCV002802034] Chr3:25778667 [GRCh38]
Chr3:25820158 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.247-6T>C single nucleotide variant Congenital disorder of deglycosylation [RCV002985289] Chr3:25764317 [GRCh38]
Chr3:25805808 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1745A>G (p.Glu582Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV002928401] Chr3:25720058 [GRCh38]
Chr3:25761549 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.122A>G (p.Asn41Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV002889936] Chr3:25783269 [GRCh38]
Chr3:25824760 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1483C>A (p.Leu495Ile) single nucleotide variant Congenital disorder of deglycosylation [RCV002802067] Chr3:25729261 [GRCh38]
Chr3:25770752 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.612A>G (p.Lys204=) single nucleotide variant Congenital disorder of deglycosylation [RCV002711191] Chr3:25751144 [GRCh38]
Chr3:25792635 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1953C>T (p.Phe651=) single nucleotide variant Congenital disorder of deglycosylation [RCV002805272] Chr3:25719472 [GRCh38]
Chr3:25760963 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.619T>C (p.Ser207Pro) single nucleotide variant Congenital disorder of deglycosylation [RCV003006095] Chr3:25751137 [GRCh38]
Chr3:25792628 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.176C>G (p.Thr59Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV002828505] Chr3:25778644 [GRCh38]
Chr3:25820135 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.247-12T>C single nucleotide variant Congenital disorder of deglycosylation [RCV002745662] Chr3:25764323 [GRCh38]
Chr3:25805814 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1212G>A (p.Lys404=) single nucleotide variant Congenital disorder of deglycosylation [RCV002852927] Chr3:25733920 [GRCh38]
Chr3:25775411 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1682G>A (p.Gly561Asp) single nucleotide variant Congenital disorder of deglycosylation [RCV003025763] Chr3:25720121 [GRCh38]
Chr3:25761612 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1176C>G (p.Ser392=) single nucleotide variant Congenital disorder of deglycosylation [RCV003056554] Chr3:25733956 [GRCh38]
Chr3:25775447 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.925T>C (p.Cys309Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV002957770] Chr3:25737412 [GRCh38]
Chr3:25778903 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.162C>T (p.Ile54=) single nucleotide variant Congenital disorder of deglycosylation [RCV002872319] Chr3:25778658 [GRCh38]
Chr3:25820149 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1662G>A (p.Lys554=) single nucleotide variant Congenital disorder of deglycosylation [RCV002852223] Chr3:25720141 [GRCh38]
Chr3:25761632 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.387A>C (p.Ala129=) single nucleotide variant Congenital disorder of deglycosylation [RCV002985288] Chr3:25764171 [GRCh38]
Chr3:25805662 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.149A>C (p.Lys50Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV002801238] Chr3:25778671 [GRCh38]
Chr3:25820162 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1632A>T (p.Glu544Asp) single nucleotide variant Congenital disorder of deglycosylation [RCV002602866] Chr3:25720171 [GRCh38]
Chr3:25761662 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1790A>T (p.Asp597Val) single nucleotide variant Congenital disorder of deglycosylation [RCV003065197] Chr3:25719635 [GRCh38]
Chr3:25761126 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.15A>G (p.Ala5=) single nucleotide variant Congenital disorder of deglycosylation [RCV002675752] Chr3:25783376 [GRCh38]
Chr3:25824867 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1014G>C (p.Trp338Cys) single nucleotide variant Congenital disorder of deglycosylation [RCV002962540] Chr3:25736139 [GRCh38]
Chr3:25777630 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1797T>A (p.Ser599Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV002770752] Chr3:25719628 [GRCh38]
Chr3:25761119 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1052A>G (p.His351Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV003029239] Chr3:25736101 [GRCh38]
Chr3:25777592 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.200C>G (p.Pro67Arg) single nucleotide variant Congenital disorder of deglycosylation [RCV003045378] Chr3:25778620 [GRCh38]
Chr3:25820111 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.395C>T (p.Thr132Ile) single nucleotide variant Congenital disorder of deglycosylation [RCV002938702] Chr3:25764163 [GRCh38]
Chr3:25805654 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.816G>A (p.Lys272=) single nucleotide variant Congenital disorder of deglycosylation [RCV002933650] Chr3:25739642 [GRCh38]
Chr3:25781133 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1758A>G (p.Arg586=) single nucleotide variant Congenital disorder of deglycosylation [RCV002857198] Chr3:25720045 [GRCh38]
Chr3:25761536 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.240T>C (p.Phe80=) single nucleotide variant Congenital disorder of deglycosylation [RCV003010129] Chr3:25778580 [GRCh38]
Chr3:25820071 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.807T>A (p.Asp269Glu) single nucleotide variant Congenital disorder of deglycosylation [RCV002715562] Chr3:25739651 [GRCh38]
Chr3:25781142 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.665A>G (p.Asn222Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV003060218] Chr3:25739793 [GRCh38]
Chr3:25781284 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1149+19A>T single nucleotide variant Congenital disorder of deglycosylation [RCV003065644] Chr3:25735985 [GRCh38]
Chr3:25777476 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1696A>G (p.Ser566Gly) single nucleotide variant Congenital disorder of deglycosylation [RCV002806785] Chr3:25720107 [GRCh38]
Chr3:25761598 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1765A>G (p.Thr589Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV002937496] Chr3:25720038 [GRCh38]
Chr3:25761529 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1261-13dup duplication Congenital disorder of deglycosylation [RCV003047671] Chr3:25732495..25732496 [GRCh38]
Chr3:25773986..25773987 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.1923A>G (p.Glu641=) single nucleotide variant Congenital disorder of deglycosylation [RCV003028489] Chr3:25719502 [GRCh38]
Chr3:25760993 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1611+3A>C single nucleotide variant Congenital disorder of deglycosylation [RCV002814907] Chr3:25729130 [GRCh38]
Chr3:25770621 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.351T>C (p.Asn117=) single nucleotide variant Congenital disorder of deglycosylation [RCV002582297] Chr3:25764207 [GRCh38]
Chr3:25805698 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1237A>G (p.Thr413Ala) single nucleotide variant Congenital disorder of deglycosylation [RCV002721737] Chr3:25733895 [GRCh38]
Chr3:25775386 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1198G>A (p.Ala400Thr) single nucleotide variant Congenital disorder of deglycosylation [RCV003092954] Chr3:25733934 [GRCh38]
Chr3:25775425 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.173A>G (p.Asn58Ser) single nucleotide variant Congenital disorder of deglycosylation [RCV002653774] Chr3:25778647 [GRCh38]
Chr3:25820138 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.492G>C (p.Thr164=) single nucleotide variant Congenital disorder of deglycosylation [RCV002608925] Chr3:25764066 [GRCh38]
Chr3:25805557 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1261-19dup duplication Congenital disorder of deglycosylation [RCV002633924] Chr3:25732501..25732502 [GRCh38]
Chr3:25773992..25773993 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.1485T>C (p.Leu495=) single nucleotide variant Congenital disorder of deglycosylation [RCV002814800] Chr3:25729259 [GRCh38]
Chr3:25770750 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.132-19A>C single nucleotide variant Congenital disorder of deglycosylation [RCV003069066] Chr3:25778707 [GRCh38]
Chr3:25820198 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1315G>T (p.Val439Leu) single nucleotide variant Congenital disorder of deglycosylation 1 [RCV003133023] Chr3:25732429 [GRCh38]
Chr3:25773920 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1124_1125del (p.Tyr375fs) deletion Congenital disorder of deglycosylation 1 [RCV003325266] Chr3:25736028..25736029 [GRCh38]
Chr3:25777519..25777520 [GRCh37]
Chr3:3p24.2
likely pathogenic
GRCh38/hg38 3p24.2(chr3:25699606-25738988)x0 copy number loss Congenital disorder of deglycosylation 1 [RCV003327653] Chr3:25699606..25738988 [GRCh38]
Chr3:3p24.2
pathogenic
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1
pathogenic
GRCh37/hg19 3p24.2(chr3:25453857-26021261)x1 copy number loss not provided [RCV003485382] Chr3:25453857..26021261 [GRCh37]
Chr3:3p24.2
uncertain significance
GRCh37/hg19 3p24.2(chr3:25791211-25912576)x1 copy number loss not provided [RCV003485383] Chr3:25791211..25912576 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.366A>C (p.Val122=) single nucleotide variant Congenital disorder of deglycosylation [RCV003874884] Chr3:25764192 [GRCh38]
Chr3:25805683 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1612-15C>G single nucleotide variant Congenital disorder of deglycosylation [RCV003874930] Chr3:25720206 [GRCh38]
Chr3:25761697 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1789+18G>T single nucleotide variant Congenital disorder of deglycosylation [RCV003826173] Chr3:25719996 [GRCh38]
Chr3:25761487 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.246+19T>G single nucleotide variant Congenital disorder of deglycosylation [RCV003826843] Chr3:25778555 [GRCh38]
Chr3:25820046 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1003+20C>T single nucleotide variant Congenital disorder of deglycosylation [RCV003825641] Chr3:25737314 [GRCh38]
Chr3:25778805 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.493-18T>A single nucleotide variant Congenital disorder of deglycosylation [RCV003828051] Chr3:25751281 [GRCh38]
Chr3:25792772 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1539C>T (p.Thr513=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741501] Chr3:25729205 [GRCh38]
Chr3:25770696 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.173del (p.Asn58fs) deletion Congenital disorder of deglycosylation [RCV003581376] Chr3:25778647 [GRCh38]
Chr3:25820138 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1746del (p.Glu582fs) deletion Congenital disorder of deglycosylation [RCV003582801] Chr3:25720057 [GRCh38]
Chr3:25761548 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1425+15C>T single nucleotide variant Congenital disorder of deglycosylation [RCV003741556] Chr3:25732304 [GRCh38]
Chr3:25773795 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.131+18C>G single nucleotide variant Congenital disorder of deglycosylation [RCV003741582] Chr3:25783242 [GRCh38]
Chr3:25824733 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.93C>T (p.Ala31=) single nucleotide variant Congenital disorder of deglycosylation [RCV003581432] Chr3:25783298 [GRCh38]
Chr3:25824789 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1612-12T>C single nucleotide variant Congenital disorder of deglycosylation [RCV003741383] Chr3:25720203 [GRCh38]
Chr3:25761694 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1516C>T (p.Arg506Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003741644] Chr3:25729228 [GRCh38]
Chr3:25770719 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1422A>G (p.Leu474=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741631] Chr3:25732322 [GRCh38]
Chr3:25773813 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.462G>A (p.Gly154=) single nucleotide variant Congenital disorder of deglycosylation [RCV003581502] Chr3:25764096 [GRCh38]
Chr3:25805587 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.375T>C (p.Ser125=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741691] Chr3:25764183 [GRCh38]
Chr3:25805674 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.882-9T>G single nucleotide variant Congenital disorder of deglycosylation [RCV003741740] Chr3:25737464 [GRCh38]
Chr3:25778955 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.666T>C (p.Asn222=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741679] Chr3:25739792 [GRCh38]
Chr3:25781283 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1003+2T>C single nucleotide variant Congenital disorder of deglycosylation [RCV003741696] Chr3:25737332 [GRCh38]
Chr3:25778823 [GRCh37]
Chr3:3p24.2
likely pathogenic
NM_018297.4(NGLY1):c.731G>A (p.Trp244Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003741765] Chr3:25739727 [GRCh38]
Chr3:25781218 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.246+11T>A single nucleotide variant Congenital disorder of deglycosylation [RCV003583028] Chr3:25778563 [GRCh38]
Chr3:25820054 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.237C>T (p.Gly79=) single nucleotide variant Congenital disorder of deglycosylation [RCV003582986] Chr3:25778583 [GRCh38]
Chr3:25820074 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1150-8T>C single nucleotide variant Congenital disorder of deglycosylation [RCV003741787] Chr3:25733990 [GRCh38]
Chr3:25775481 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1406G>A (p.Arg469Gln) single nucleotide variant Congenital disorder of deglycosylation [RCV003583072] Chr3:25732338 [GRCh38]
Chr3:25773829 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.1260+15T>C single nucleotide variant Congenital disorder of deglycosylation [RCV003741856] Chr3:25733857 [GRCh38]
Chr3:25775348 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1004-11T>C single nucleotide variant Congenital disorder of deglycosylation [RCV003741877] Chr3:25736160 [GRCh38]
Chr3:25777651 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1612-16T>A single nucleotide variant Congenital disorder of deglycosylation [RCV003741842] Chr3:25720207 [GRCh38]
Chr3:25761698 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.372A>G (p.Ser124=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741845] Chr3:25764186 [GRCh38]
Chr3:25805677 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.659-20dup duplication Congenital disorder of deglycosylation [RCV003741962] Chr3:25739818..25739819 [GRCh38]
Chr3:25781309..25781310 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1419T>G (p.Gly473=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741982] Chr3:25732325 [GRCh38]
Chr3:25773816 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.562_563del (p.Pro188fs) deletion Congenital disorder of deglycosylation [RCV003741985] Chr3:25751193..25751194 [GRCh38]
Chr3:25792684..25792685 [GRCh37]
Chr3:3p24.2
pathogenic
NC_000003.12:g.25719635_25719641del deletion Congenital disorder of deglycosylation [RCV003581971] Chr3:25719629..25719635 [GRCh38]
Chr3:25761120..25761126 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.819G>A (p.Trp273Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003582028] Chr3:25739639 [GRCh38]
Chr3:25781130 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.51G>A (p.Val17=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742001] Chr3:25783340 [GRCh38]
Chr3:25824831 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1026T>C (p.Tyr342=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742012] Chr3:25736127 [GRCh38]
Chr3:25777618 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.493-10_493-9dup duplication Congenital disorder of deglycosylation [RCV003742035] Chr3:25751271..25751272 [GRCh38]
Chr3:25792762..25792763 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.1668G>A (p.Glu556=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741992] Chr3:25720135 [GRCh38]
Chr3:25761626 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.270del (p.Ala93fs) deletion Congenital disorder of deglycosylation [RCV003742015] Chr3:25764288 [GRCh38]
Chr3:25805779 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.659-19T>A single nucleotide variant Congenital disorder of deglycosylation [RCV003582075] Chr3:25739818 [GRCh38]
Chr3:25781309 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.63C>A (p.Cys21Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003740730] Chr3:25783328 [GRCh38]
Chr3:25824819 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.881+16G>A single nucleotide variant Congenital disorder of deglycosylation [RCV003742106] Chr3:25739561 [GRCh38]
Chr3:25781052 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1426-6T>C single nucleotide variant Congenital disorder of deglycosylation [RCV003582226] Chr3:25729324 [GRCh38]
Chr3:25770815 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1560C>A (p.Gly520=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742170] Chr3:25729184 [GRCh38]
Chr3:25770675 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.15A>T (p.Ala5=) single nucleotide variant Congenital disorder of deglycosylation [RCV003582221] Chr3:25783376 [GRCh38]
Chr3:25824867 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1303C>T (p.Gln435Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003740781] Chr3:25732441 [GRCh38]
Chr3:25773932 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1637del (p.Ser546fs) deletion Congenital disorder of deglycosylation [RCV003582251] Chr3:25720166 [GRCh38]
Chr3:25761657 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1260+12C>G single nucleotide variant Congenital disorder of deglycosylation [RCV003582283] Chr3:25733860 [GRCh38]
Chr3:25775351 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1611+13A>G single nucleotide variant Congenital disorder of deglycosylation [RCV003740929] Chr3:25729120 [GRCh38]
Chr3:25770611 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1261-19T>A single nucleotide variant Congenital disorder of deglycosylation [RCV003742241] Chr3:25732502 [GRCh38]
Chr3:25773993 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.882-13dup duplication Congenital disorder of deglycosylation [RCV003742247] Chr3:25737467..25737468 [GRCh38]
Chr3:25778958..25778959 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1632_1635del (p.Glu544fs) microsatellite Congenital disorder of deglycosylation [RCV003742308] Chr3:25720168..25720171 [GRCh38]
Chr3:25761659..25761662 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1426-8T>G single nucleotide variant Congenital disorder of deglycosylation [RCV003582429] Chr3:25729326 [GRCh38]
Chr3:25770817 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.720A>G (p.Glu240=) single nucleotide variant Congenital disorder of deglycosylation [RCV003740916] Chr3:25739738 [GRCh38]
Chr3:25781229 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.450G>A (p.Arg150=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742397] Chr3:25764108 [GRCh38]
Chr3:25805599 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1749G>A (p.Trp583Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003742264] Chr3:25720054 [GRCh38]
Chr3:25761545 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.276del (p.Ala93fs) deletion Congenital disorder of deglycosylation [RCV003582470] Chr3:25764282 [GRCh38]
Chr3:25805773 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1131A>C (p.Ile377=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741104] Chr3:25736022 [GRCh38]
Chr3:25777513 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.493-2A>G single nucleotide variant Congenital disorder of deglycosylation [RCV003741361] Chr3:25751265 [GRCh38]
Chr3:25792756 [GRCh37]
Chr3:3p24.2
likely pathogenic
NM_018297.4(NGLY1):c.1491C>A (p.Tyr497Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003581265] Chr3:25729253 [GRCh38]
Chr3:25770744 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1150-7G>A single nucleotide variant Congenital disorder of deglycosylation [RCV003832611] Chr3:25733989 [GRCh38]
Chr3:25775480 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.419C>G (p.Ser140Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003741363] Chr3:25764139 [GRCh38]
Chr3:25805630 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1261-19del deletion Congenital disorder of deglycosylation [RCV003581298] Chr3:25732502 [GRCh38]
Chr3:25773993 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.35C>A (p.Ser12Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003742510] Chr3:25783356 [GRCh38]
Chr3:25824847 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.804T>C (p.Asp268=) single nucleotide variant Congenital disorder of deglycosylation [RCV003581354] Chr3:25739654 [GRCh38]
Chr3:25781145 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.127del (p.Leu43fs) deletion Congenital disorder of deglycosylation [RCV003582759] Chr3:25783264 [GRCh38]
Chr3:25824755 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.881+18T>C single nucleotide variant Congenital disorder of deglycosylation [RCV003740979] Chr3:25739559 [GRCh38]
Chr3:25781050 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.132-6dup duplication Congenital disorder of deglycosylation [RCV003741673] Chr3:25778693..25778694 [GRCh38]
Chr3:25820184..25820185 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.1261-15A>C single nucleotide variant Congenital disorder of deglycosylation [RCV003742283] Chr3:25732498 [GRCh38]
Chr3:25773989 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.600C>T (p.Val200=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741006] Chr3:25751156 [GRCh38]
Chr3:25792647 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.131+13G>C single nucleotide variant Congenital disorder of deglycosylation [RCV003741021] Chr3:25783247 [GRCh38]
Chr3:25824738 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1790-9dup duplication Congenital disorder of deglycosylation [RCV003741690] Chr3:25719643..25719644 [GRCh38]
Chr3:25761134..25761135 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1134A>G (p.Ala378=) single nucleotide variant Congenital disorder of deglycosylation [RCV003582995] Chr3:25736019 [GRCh38]
Chr3:25777510 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.131+15G>T single nucleotide variant Congenital disorder of deglycosylation [RCV003583033] Chr3:25783245 [GRCh38]
Chr3:25824736 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.180C>G (p.Ala60=) single nucleotide variant Congenital disorder of deglycosylation [RCV003582435] Chr3:25778640 [GRCh38]
Chr3:25820131 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.492+18C>T single nucleotide variant Congenital disorder of deglycosylation [RCV003583078] Chr3:25764048 [GRCh38]
Chr3:25805539 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.247-2A>T single nucleotide variant Congenital disorder of deglycosylation [RCV003742261] Chr3:25764313 [GRCh38]
Chr3:25805804 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.243A>G (p.Glu81=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741871] Chr3:25778577 [GRCh38]
Chr3:25820068 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.477A>T (p.Pro159=) single nucleotide variant Congenital disorder of deglycosylation [RCV003581181] Chr3:25764081 [GRCh38]
Chr3:25805572 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1003+7A>G single nucleotide variant Congenital disorder of deglycosylation [RCV003742441] Chr3:25737327 [GRCh38]
Chr3:25778818 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1003+13G>C single nucleotide variant Congenital disorder of deglycosylation [RCV003583132] Chr3:25737321 [GRCh38]
Chr3:25778812 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1686A>G (p.Leu562=) single nucleotide variant Congenital disorder of deglycosylation [RCV003583144] Chr3:25720117 [GRCh38]
Chr3:25761608 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1224A>G (p.Ala408=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741920] Chr3:25733908 [GRCh38]
Chr3:25775399 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1167G>A (p.Trp389Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003581216] Chr3:25733965 [GRCh38]
Chr3:25775456 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1074C>T (p.Val358=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742494] Chr3:25736079 [GRCh38]
Chr3:25777570 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.531dup (p.Asn178fs) duplication Congenital disorder of deglycosylation [RCV003742447] Chr3:25751224..25751225 [GRCh38]
Chr3:25792715..25792716 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1261-12C>T single nucleotide variant Congenital disorder of deglycosylation [RCV003581278] Chr3:25732495 [GRCh38]
Chr3:25773986 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1260+10G>A single nucleotide variant Congenital disorder of deglycosylation [RCV003582022] Chr3:25733862 [GRCh38]
Chr3:25775353 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.882-19T>G single nucleotide variant Congenital disorder of deglycosylation [RCV003742031] Chr3:25737474 [GRCh38]
Chr3:25778965 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1698C>T (p.Ser566=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742527] Chr3:25720105 [GRCh38]
Chr3:25761596 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1612-18C>T single nucleotide variant Congenital disorder of deglycosylation [RCV003582195] Chr3:25720209 [GRCh38]
Chr3:25761700 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.369G>A (p.Lys123=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742126] Chr3:25764189 [GRCh38]
Chr3:25805680 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1512T>A (p.Tyr504Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003740833] Chr3:25729232 [GRCh38]
Chr3:25770723 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.659-17C>T single nucleotide variant Congenital disorder of deglycosylation [RCV003741562] Chr3:25739816 [GRCh38]
Chr3:25781307 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1179C>T (p.Cys393=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741603] Chr3:25733953 [GRCh38]
Chr3:25775444 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.195C>G (p.Leu65=) single nucleotide variant Congenital disorder of deglycosylation [RCV003581339] Chr3:25778625 [GRCh38]
Chr3:25820116 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.387A>G (p.Ala129=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741621] Chr3:25764171 [GRCh38]
Chr3:25805662 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1149+7C>G single nucleotide variant Congenital disorder of deglycosylation [RCV003582906] Chr3:25735997 [GRCh38]
Chr3:25777488 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.21C>A (p.Gly7=) single nucleotide variant Congenital disorder of deglycosylation [RCV003582003] Chr3:25783370 [GRCh38]
Chr3:25824861 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1470T>C (p.Ser490=) single nucleotide variant Congenital disorder of deglycosylation [RCV003582025] Chr3:25729274 [GRCh38]
Chr3:25770765 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.806A>T (p.Asp269Val) single nucleotide variant Congenital disorder of deglycosylation [RCV003740716] Chr3:25739652 [GRCh38]
Chr3:25781143 [GRCh37]
Chr3:3p24.2
uncertain significance
NM_018297.4(NGLY1):c.131+8G>A single nucleotide variant Congenital disorder of deglycosylation [RCV003740744] Chr3:25783252 [GRCh38]
Chr3:25824743 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1263G>A (p.Arg421=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742016] Chr3:25732481 [GRCh38]
Chr3:25773972 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1248G>C (p.Gly416=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742037] Chr3:25733884 [GRCh38]
Chr3:25775375 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1227A>G (p.Leu409=) single nucleotide variant Congenital disorder of deglycosylation [RCV003740923] Chr3:25733905 [GRCh38]
Chr3:25775396 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1764T>C (p.Asp588=) single nucleotide variant Congenital disorder of deglycosylation [RCV003582391] Chr3:25720039 [GRCh38]
Chr3:25761530 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.12G>C (p.Ala4=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742245] Chr3:25783379 [GRCh38]
Chr3:25824870 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.645A>G (p.Arg215=) single nucleotide variant Congenital disorder of deglycosylation [RCV003582491] Chr3:25751111 [GRCh38]
Chr3:25792602 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1488T>C (p.Cys496=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741080] Chr3:25729256 [GRCh38]
Chr3:25770747 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1260+16C>T single nucleotide variant Congenital disorder of deglycosylation [RCV003742417] Chr3:25733856 [GRCh38]
Chr3:25775347 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.301dup (p.Ile101fs) duplication Congenital disorder of deglycosylation [RCV003582690] Chr3:25764256..25764257 [GRCh38]
Chr3:25805747..25805748 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1248G>A (p.Gly416=) single nucleotide variant Congenital disorder of deglycosylation [RCV003582862] Chr3:25733884 [GRCh38]
Chr3:25775375 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1188A>G (p.Glu396=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741610] Chr3:25733944 [GRCh38]
Chr3:25775435 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1442_1452del (p.Leu480_Phe481insTer) deletion Congenital disorder of deglycosylation [RCV003582927] Chr3:25729292..25729302 [GRCh38]
Chr3:25770783..25770793 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1109dup (p.Lys371fs) duplication Congenital disorder of deglycosylation [RCV003741714] Chr3:25736043..25736044 [GRCh38]
Chr3:25777534..25777535 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1261-11A>C single nucleotide variant Congenital disorder of deglycosylation [RCV003583085] Chr3:25732494 [GRCh38]
Chr3:25773985 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1426-14G>A single nucleotide variant Congenital disorder of deglycosylation [RCV003583101] Chr3:25729332 [GRCh38]
Chr3:25770823 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.288G>A (p.Glu96=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741521] Chr3:25764270 [GRCh38]
Chr3:25805761 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.247-2A>G single nucleotide variant Congenital disorder of deglycosylation [RCV003740881] Chr3:25764313 [GRCh38]
Chr3:25805804 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.440_441del (p.Gln147fs) deletion Congenital disorder of deglycosylation [RCV003742235] Chr3:25764117..25764118 [GRCh38]
Chr3:25805608..25805609 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.1790-13_1790-12dup duplication Congenital disorder of deglycosylation [RCV003742150] Chr3:25719646..25719647 [GRCh38]
Chr3:25761137..25761138 [GRCh37]
Chr3:3p24.2
benign
NM_018297.4(NGLY1):c.1789+12C>G single nucleotide variant Congenital disorder of deglycosylation [RCV003741600] Chr3:25720002 [GRCh38]
Chr3:25761493 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1503A>G (p.Lys501=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741737] Chr3:25729241 [GRCh38]
Chr3:25770732 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.6G>C (p.Ala2=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741748] Chr3:25783385 [GRCh38]
Chr3:25824876 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1194G>C (p.Val398=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741810] Chr3:25733938 [GRCh38]
Chr3:25775429 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1611+14T>C single nucleotide variant Congenital disorder of deglycosylation [RCV003742268] Chr3:25729119 [GRCh38]
Chr3:25770610 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.196T>C (p.Leu66=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742419] Chr3:25778624 [GRCh38]
Chr3:25820115 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1062A>T (p.Ala354=) single nucleotide variant Congenital disorder of deglycosylation [RCV003582557] Chr3:25736091 [GRCh38]
Chr3:25777582 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1266A>G (p.Gln422=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741849] Chr3:25732478 [GRCh38]
Chr3:25773969 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1003+13G>A single nucleotide variant Congenital disorder of deglycosylation [RCV003854352] Chr3:25737321 [GRCh38]
Chr3:25778812 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.795G>A (p.Leu265=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742482] Chr3:25739663 [GRCh38]
Chr3:25781154 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.6G>A (p.Ala2=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741976] Chr3:25783385 [GRCh38]
Chr3:25824876 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.516A>T (p.Leu172=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741454] Chr3:25751240 [GRCh38]
Chr3:25792731 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.493-15T>G single nucleotide variant Congenital disorder of deglycosylation [RCV003741471] Chr3:25751278 [GRCh38]
Chr3:25792769 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1512T>C (p.Tyr504=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742066] Chr3:25729232 [GRCh38]
Chr3:25770723 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1491C>T (p.Tyr497=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742067] Chr3:25729253 [GRCh38]
Chr3:25770744 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1941A>C (p.Ile647=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742113] Chr3:25719484 [GRCh38]
Chr3:25760975 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1086A>G (p.Pro362=) single nucleotide variant Congenital disorder of deglycosylation [RCV003582220] Chr3:25736067 [GRCh38]
Chr3:25777558 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.141T>C (p.Asn47=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741599] Chr3:25778679 [GRCh38]
Chr3:25820170 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1611+9A>C single nucleotide variant Congenital disorder of deglycosylation [RCV003582909] Chr3:25729124 [GRCh38]
Chr3:25770615 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.42C>G (p.Ser14=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742290] Chr3:25783349 [GRCh38]
Chr3:25824840 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.939C>G (p.Ala313=) single nucleotide variant Congenital disorder of deglycosylation [RCV003582960] Chr3:25737398 [GRCh38]
Chr3:25778889 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.96C>T (p.Ser32=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741067] Chr3:25783295 [GRCh38]
Chr3:25824786 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.492+19C>T single nucleotide variant Congenital disorder of deglycosylation [RCV003741086] Chr3:25764047 [GRCh38]
Chr3:25805538 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1003+17G>A single nucleotide variant Congenital disorder of deglycosylation [RCV003742389] Chr3:25737317 [GRCh38]
Chr3:25778808 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.658+14A>T single nucleotide variant Congenital disorder of deglycosylation [RCV003742425] Chr3:25751084 [GRCh38]
Chr3:25792575 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.954G>A (p.Leu318=) single nucleotide variant Congenital disorder of deglycosylation [RCV003581945] Chr3:25737383 [GRCh38]
Chr3:25778874 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.659-15C>G single nucleotide variant Congenital disorder of deglycosylation [RCV003581969] Chr3:25739814 [GRCh38]
Chr3:25781305 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1563G>A (p.Val521=) single nucleotide variant Congenital disorder of deglycosylation [RCV003582613] Chr3:25729181 [GRCh38]
Chr3:25770672 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.555T>A (p.Tyr185Ter) single nucleotide variant Congenital disorder of deglycosylation [RCV003741986] Chr3:25751201 [GRCh38]
Chr3:25792692 [GRCh37]
Chr3:3p24.2
pathogenic
NM_018297.4(NGLY1):c.675T>C (p.Asp225=) single nucleotide variant Congenital disorder of deglycosylation [RCV003741990] Chr3:25739783 [GRCh38]
Chr3:25781274 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1611+12C>G single nucleotide variant Congenital disorder of deglycosylation [RCV003741391] Chr3:25729121 [GRCh38]
Chr3:25770612 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1789+20_1789+21del deletion Congenital disorder of deglycosylation [RCV003741397] Chr3:25719993..25719994 [GRCh38]
Chr3:25761484..25761485 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.493-7del deletion Congenital disorder of deglycosylation [RCV003582663] Chr3:25751270 [GRCh38]
Chr3:25792761 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1260+16C>G single nucleotide variant Congenital disorder of deglycosylation [RCV003740732] Chr3:25733856 [GRCh38]
Chr3:25775347 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.336A>G (p.Arg112=) single nucleotide variant Congenital disorder of deglycosylation [RCV003742099] Chr3:25764222 [GRCh38]
Chr3:25805713 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.978A>G (p.Glu326=) single nucleotide variant Congenital disorder of deglycosylation [RCV003582769] Chr3:25737359 [GRCh38]
Chr3:25778850 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1789+16G>A single nucleotide variant Congenital disorder of deglycosylation [RCV003742200] Chr3:25719998 [GRCh38]
Chr3:25761489 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.729C>T (p.His243=) single nucleotide variant Congenital disorder of deglycosylation [RCV003861776] Chr3:25739729 [GRCh38]
Chr3:25781220 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1920T>C (p.His640=) single nucleotide variant Congenital disorder of deglycosylation [RCV003845810] Chr3:25719505 [GRCh38]
Chr3:25760996 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.30A>G (p.Ser10=) single nucleotide variant Congenital disorder of deglycosylation [RCV003823759] Chr3:25783361 [GRCh38]
Chr3:25824852 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1218A>G (p.Lys406=) single nucleotide variant Congenital disorder of deglycosylation [RCV003823256] Chr3:25733914 [GRCh38]
Chr3:25775405 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.658+18T>G single nucleotide variant Congenital disorder of deglycosylation [RCV003848709] Chr3:25751080 [GRCh38]
Chr3:25792571 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1261-13A>C single nucleotide variant Congenital disorder of deglycosylation [RCV003862713] Chr3:25732496 [GRCh38]
Chr3:25773987 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.798C>T (p.Pro266=) single nucleotide variant Congenital disorder of deglycosylation [RCV003861631] Chr3:25739660 [GRCh38]
Chr3:25781151 [GRCh37]
Chr3:3p24.2
likely benign
NM_018297.4(NGLY1):c.1931G>A (p.Cys644Tyr) single nucleotide variant Congenital disorder of deglycosylation 1 [RCV003131799] Chr3:25719494 [GRCh38]
Chr3:25760985 [GRCh37]
Chr3:3p24.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1923
Count of miRNA genes:759
Interacting mature miRNAs:857
Transcripts:ENST00000280699, ENST00000280700, ENST00000308710, ENST00000396649, ENST00000417874, ENST00000422724, ENST00000427041, ENST00000428257, ENST00000461491, ENST00000463611, ENST00000467224, ENST00000474611, ENST00000478991, ENST00000489271, ENST00000493324, ENST00000496726
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.

Markers in Region
RH79688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37325,760,806 - 25,761,058UniSTSGRCh37
Build 36325,735,810 - 25,736,062RGDNCBI36
Celera325,697,687 - 25,697,939RGD
Cytogenetic Map3p24.2UniSTS
HuRef325,705,889 - 25,706,141UniSTS
GeneMap99-GB4 RH Map384.97UniSTS
D3S2812E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37325,770,664 - 25,770,772UniSTSGRCh37
Build 36325,745,668 - 25,745,776RGDNCBI36
Celera325,707,544 - 25,707,652RGD
Cytogenetic Map3p24.2UniSTS
HuRef325,715,745 - 25,715,853UniSTS
RH16673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37325,814,884 - 25,815,031UniSTSGRCh37
Build 36325,789,888 - 25,790,035RGDNCBI36
Celera325,751,758 - 25,751,905RGD
Cytogenetic Map3p24.2UniSTS
HuRef325,759,948 - 25,760,095UniSTS
GeneMap99-GB4 RH Map384.9UniSTS
NCBI RH Map3234.1UniSTS
SHGC-76781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37325,761,412 - 25,761,628UniSTSGRCh37
Build 36325,736,416 - 25,736,632RGDNCBI36
Celera325,698,293 - 25,698,509RGD
Cytogenetic Map3p24.2UniSTS
HuRef325,706,495 - 25,706,711UniSTS
TNG Radiation Hybrid Map315878.0UniSTS
GeneMap99-GB4 RH Map385.1UniSTS
NCBI RH Map3230.4UniSTS
D5S2354  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map12q24.11UniSTS
D10S16   No map positions available.
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS
D7S2067E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map6p21.1-p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map5q33.3UniSTS
RH93712  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
GeneMap99-GB4 RH Map384.9UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2200 2311 1407 359 1719 205 4168 1814 1983 188 1355 1441 163 1 1178 2711 4 1
Low 239 679 319 265 232 260 189 382 1751 231 105 172 11 26 77 2 1
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_940471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB114414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB114415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF250924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ017148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC329733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000280699   ⟹   ENSP00000280699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,719,279 - 25,783,364 (-)Ensembl
RefSeq Acc Id: ENST00000280700   ⟹   ENSP00000280700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,718,944 - 25,783,443 (-)Ensembl
RefSeq Acc Id: ENST00000308710   ⟹   ENSP00000307980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,719,276 - 25,783,381 (-)Ensembl
RefSeq Acc Id: ENST00000396649   ⟹   ENSP00000379886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,719,271 - 25,783,438 (-)Ensembl
RefSeq Acc Id: ENST00000417874   ⟹   ENSP00000389888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,719,411 - 25,790,039 (-)Ensembl
RefSeq Acc Id: ENST00000427041   ⟹   ENSP00000412946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,751,181 - 25,782,872 (-)Ensembl
RefSeq Acc Id: ENST00000428257   ⟹   ENSP00000387430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,718,945 - 25,783,498 (-)Ensembl
RefSeq Acc Id: ENST00000461491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,764,129 - 25,784,156 (-)Ensembl
RefSeq Acc Id: ENST00000463611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,719,367 - 25,783,414 (-)Ensembl
RefSeq Acc Id: ENST00000467224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,719,275 - 25,733,984 (-)Ensembl
RefSeq Acc Id: ENST00000474611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,777,701 - 25,783,482 (-)Ensembl
RefSeq Acc Id: ENST00000478991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,778,262 - 25,783,414 (-)Ensembl
RefSeq Acc Id: ENST00000489271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,718,944 - 25,730,550 (-)Ensembl
RefSeq Acc Id: ENST00000493324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,719,270 - 25,783,414 (-)Ensembl
RefSeq Acc Id: ENST00000496726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,719,279 - 25,736,346 (-)Ensembl
RefSeq Acc Id: ENST00000674841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,719,313 - 25,782,960 (-)Ensembl
RefSeq Acc Id: ENST00000675178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,719,273 - 25,751,264 (-)Ensembl
RefSeq Acc Id: ENST00000675217   ⟹   ENSP00000502195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,718,945 - 25,783,394 (-)Ensembl
RefSeq Acc Id: ENST00000675234   ⟹   ENSP00000502740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,719,342 - 25,783,442 (-)Ensembl
RefSeq Acc Id: ENST00000675680   ⟹   ENSP00000502709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,719,275 - 25,751,264 (-)Ensembl
RefSeq Acc Id: ENST00000676225   ⟹   ENSP00000501622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl325,719,176 - 25,783,424 (-)Ensembl
RefSeq Acc Id: NM_001145293   ⟹   NP_001138765
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38325,718,944 - 25,783,443 (-)NCBI
GRCh37325,760,435 - 25,831,530 (-)RGD
Celera325,697,316 - 25,768,403 (-)RGD
HuRef325,705,518 - 25,776,520 (-)ENTREZGENE
CHM1_1325,710,469 - 25,775,012 (-)NCBI
T2T-CHM13v2.0325,721,799 - 25,786,255 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145294   ⟹   NP_001138766
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38325,718,944 - 25,790,039 (-)NCBI
GRCh37325,760,435 - 25,831,530 (-)RGD
Celera325,697,316 - 25,768,403 (-)RGD
HuRef325,705,518 - 25,776,520 (-)ENTREZGENE
CHM1_1325,710,469 - 25,781,508 (-)NCBI
T2T-CHM13v2.0325,721,799 - 25,792,805 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145295   ⟹   NP_001138767
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38325,718,944 - 25,783,443 (-)NCBI
GRCh37325,760,435 - 25,831,530 (-)RGD
Celera325,697,316 - 25,768,403 (-)RGD
HuRef325,705,518 - 25,776,520 (-)ENTREZGENE
CHM1_1325,710,469 - 25,775,012 (-)NCBI
T2T-CHM13v2.0325,721,799 - 25,786,255 (-)NCBI
Sequence:
RefSeq Acc Id: NM_018297   ⟹   NP_060767
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38325,718,944 - 25,783,443 (-)NCBI
GRCh37325,760,435 - 25,831,530 (-)RGD
Build 36325,735,779 - 25,799,926 (-)NCBI Archive
Celera325,697,316 - 25,768,403 (-)RGD
HuRef325,705,518 - 25,776,520 (-)ENTREZGENE
CHM1_1325,710,469 - 25,775,012 (-)NCBI
T2T-CHM13v2.0325,721,799 - 25,786,255 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005265316   ⟹   XP_005265373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38325,718,944 - 25,783,443 (-)NCBI
GRCh37325,760,435 - 25,831,530 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005265317   ⟹   XP_005265374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38325,718,944 - 25,783,443 (-)NCBI
GRCh37325,760,435 - 25,831,530 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533944   ⟹   XP_011532246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38325,718,944 - 25,782,872 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006839   ⟹   XP_016862328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38325,722,677 - 25,783,443 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448556   ⟹   XP_047304512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38325,718,944 - 25,783,443 (-)NCBI
RefSeq Acc Id: XM_047448557   ⟹   XP_047304513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38325,718,944 - 25,783,443 (-)NCBI
RefSeq Acc Id: XM_047448558   ⟹   XP_047304514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38325,718,944 - 25,783,443 (-)NCBI
RefSeq Acc Id: XM_047448560   ⟹   XP_047304516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38325,733,872 - 25,783,443 (-)NCBI
RefSeq Acc Id: XM_047448561   ⟹   XP_047304517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38325,733,872 - 25,783,443 (-)NCBI
RefSeq Acc Id: XM_054347232   ⟹   XP_054203207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0325,721,799 - 25,786,255 (-)NCBI
RefSeq Acc Id: XM_054347233   ⟹   XP_054203208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0325,725,541 - 25,786,255 (-)NCBI
RefSeq Acc Id: XM_054347234   ⟹   XP_054203209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0325,721,799 - 25,786,255 (-)NCBI
RefSeq Acc Id: XM_054347235   ⟹   XP_054203210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0325,721,799 - 25,785,992 (-)NCBI
RefSeq Acc Id: XM_054347236   ⟹   XP_054203211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0325,721,799 - 25,786,255 (-)NCBI
RefSeq Acc Id: XM_054347237   ⟹   XP_054203212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0325,721,799 - 25,786,255 (-)NCBI
RefSeq Acc Id: XM_054347238   ⟹   XP_054203213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0325,721,799 - 25,786,255 (-)NCBI
RefSeq Acc Id: XM_054347239   ⟹   XP_054203214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0325,736,735 - 25,786,255 (-)NCBI
RefSeq Acc Id: XM_054347240   ⟹   XP_054203215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0325,736,735 - 25,786,255 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001138765 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138766 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138767 (Get FASTA)   NCBI Sequence Viewer  
  NP_060767 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265373 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265374 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532246 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862328 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304512 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304513 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304514 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304516 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304517 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203207 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203208 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203209 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203210 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203211 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203212 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203213 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203214 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203215 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF74720 (Get FASTA)   NCBI Sequence Viewer  
  AAH00963 (Get FASTA)   NCBI Sequence Viewer  
  AAH07226 (Get FASTA)   NCBI Sequence Viewer  
  AAH17220 (Get FASTA)   NCBI Sequence Viewer  
  BAA91950 (Get FASTA)   NCBI Sequence Viewer  
  BAD92786 (Get FASTA)   NCBI Sequence Viewer  
  BAG58811 (Get FASTA)   NCBI Sequence Viewer  
  EAW64363 (Get FASTA)   NCBI Sequence Viewer  
  EAW64364 (Get FASTA)   NCBI Sequence Viewer  
  EAW64365 (Get FASTA)   NCBI Sequence Viewer  
  EAW64366 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000280699.9
  ENSP00000280700
  ENSP00000280700.5
  ENSP00000307980.5
  ENSP00000379886
  ENSP00000379886.3
  ENSP00000387430
  ENSP00000387430.1
  ENSP00000389888
  ENSP00000389888.2
  ENSP00000412946.1
  ENSP00000501622.1
  ENSP00000501918.1
  ENSP00000502195.1
  ENSP00000502709.1
  ENSP00000502740.1
GenBank Protein Q96IV0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001138766   ⟸   NM_001145294
- Peptide Label: isoform 3
- UniProtKB: A0A6Q8PF23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138767   ⟸   NM_001145295
- Peptide Label: isoform 4
- UniProtKB: A0A6Q8PF23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_060767   ⟸   NM_018297
- Peptide Label: isoform 1
- UniProtKB: Q9BVR8 (UniProtKB/Swiss-Prot),   Q6PJD8 (UniProtKB/Swiss-Prot),   Q59FB1 (UniProtKB/Swiss-Prot),   B4DJE9 (UniProtKB/Swiss-Prot),   Q9NR70 (UniProtKB/Swiss-Prot),   Q96IV0 (UniProtKB/Swiss-Prot),   A0A6Q8PF23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138765   ⟸   NM_001145293
- Peptide Label: isoform 2
- UniProtKB: A0A0C4DFP4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265374   ⟸   XM_005265317
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_005265373   ⟸   XM_005265316
- Peptide Label: isoform X1
- UniProtKB: A0A6Q8PF23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011532246   ⟸   XM_011533944
- Peptide Label: isoform X4
- UniProtKB: A0A6Q8PF23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862328   ⟸   XM_017006839
- Peptide Label: isoform X2
- UniProtKB: A0A6Q8PF23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000307980   ⟸   ENST00000308710
RefSeq Acc Id: ENSP00000280700   ⟸   ENST00000280700
RefSeq Acc Id: ENSP00000280699   ⟸   ENST00000280699
RefSeq Acc Id: ENSP00000412946   ⟸   ENST00000427041
RefSeq Acc Id: ENSP00000387430   ⟸   ENST00000428257
RefSeq Acc Id: ENSP00000389888   ⟸   ENST00000417874
RefSeq Acc Id: ENSP00000379886   ⟸   ENST00000396649
RefSeq Acc Id: ENSP00000502709   ⟸   ENST00000675680
RefSeq Acc Id: ENSP00000502195   ⟸   ENST00000675217
RefSeq Acc Id: ENSP00000502740   ⟸   ENST00000675234
RefSeq Acc Id: ENSP00000501622   ⟸   ENST00000676225
RefSeq Acc Id: XP_047304514   ⟸   XM_047448558
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047304512   ⟸   XM_047448556
- Peptide Label: isoform X3
- UniProtKB: A0A0C4DFP4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304513   ⟸   XM_047448557
- Peptide Label: isoform X5
- UniProtKB: A0A0C4DFP4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047304517   ⟸   XM_047448561
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047304516   ⟸   XM_047448560
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054203212   ⟸   XM_054347237
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054203207   ⟸   XM_054347232
- Peptide Label: isoform X1
- UniProtKB: A0A6Q8PF23 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203213   ⟸   XM_054347238
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054203209   ⟸   XM_054347234
- Peptide Label: isoform X3
- UniProtKB: A0A0C4DFP4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203211   ⟸   XM_054347236
- Peptide Label: isoform X5
- UniProtKB: A0A0C4DFP4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203210   ⟸   XM_054347235
- Peptide Label: isoform X4
- UniProtKB: A0A6Q8PF23 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203208   ⟸   XM_054347233
- Peptide Label: isoform X2
- UniProtKB: A0A6Q8PF23 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054203215   ⟸   XM_054347240
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054203214   ⟸   XM_054347239
- Peptide Label: isoform X8
Protein Domains
PAW   PUB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96IV0-F1-model_v2 AlphaFold Q96IV0 1-654 view protein structure

Promoters
RGD ID:6863824
Promoter ID:EPDNEW_H5077
Type:initiation region
Name:NGLY1_1
Description:N-glycanase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38325,783,414 - 25,783,474EPDNEW
RGD ID:6801342
Promoter ID:HG_KWN:44109
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000308710,   ENST00000396649,   OTTHUMT00000340832,   OTTHUMT00000340834,   OTTHUMT00000340836,   OTTHUMT00000340840,   OTTHUMT00000340841,   OTTHUMT00000340844,   OTTHUMT00000340845,   OTTHUMT00000340846
Position:
Human AssemblyChrPosition (strand)Source
Build 36325,799,606 - 25,800,106 (-)MPROMDB
RGD ID:6801390
Promoter ID:HG_KWN:44111
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001145294,   NR_026937,   OTTHUMT00000252876,   OTTHUMT00000340814,   OTTHUMT00000340818,   OTTHUMT00000340819
Position:
Human AssemblyChrPosition (strand)Source
Build 36325,805,521 - 25,807,562 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17646 AgrOrtholog
COSMIC NGLY1 COSMIC
Ensembl Genes ENSG00000151092 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000280699.13 UniProtKB/TrEMBL
  ENST00000280700 ENTREZGENE
  ENST00000280700.10 UniProtKB/Swiss-Prot
  ENST00000308710.9 UniProtKB/TrEMBL
  ENST00000396649 ENTREZGENE
  ENST00000396649.7 UniProtKB/Swiss-Prot
  ENST00000417874 ENTREZGENE
  ENST00000417874.6 UniProtKB/Swiss-Prot
  ENST00000427041.1 UniProtKB/TrEMBL
  ENST00000428257 ENTREZGENE
  ENST00000428257.5 UniProtKB/Swiss-Prot
  ENST00000463611.2 UniProtKB/TrEMBL
  ENST00000674841 ENTREZGENE
  ENST00000675217.1 UniProtKB/TrEMBL
  ENST00000675234.1 UniProtKB/TrEMBL
  ENST00000675680.1 UniProtKB/TrEMBL
  ENST00000676225.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.2190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.20.25.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.1020 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.10.620.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000151092 GTEx
HGNC ID HGNC:17646 ENTREZGENE
Human Proteome Map NGLY1 Human Proteome Map
InterPro Galactose-bd-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Papain-like_cys_pep_sf UniProtKB/Swis