PMM2 (phosphomannomutase 2) - Rat Genome Database

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Gene: PMM2 (phosphomannomutase 2) Homo sapiens
Analyze
Symbol: PMM2
Name: phosphomannomutase 2
RGD ID: 1319677
HGNC Page HGNC:9115
Description: Predicted to enable phosphomannomutase activity. Predicted to be involved in mannose metabolic process and protein N-linked glycosylation. Located in cytosol and nucleoplasm. Implicated in congenital disorder of glycosylation and congenital disorder of glycosylation Ia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDG1; CDG1a; CDGS; Congenital disorder of glycosylation, type Ia; mannose-6-phosphate isomerase; phosphomannose isomerase 1; PMI; PMI1; PMM 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PMM2P1   PMM2P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38168,797,839 - 8,849,325 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl168,788,823 - 8,862,534 (+)EnsemblGRCh38hg38GRCh38
GRCh37168,891,696 - 8,943,182 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36168,799,193 - 8,850,684 (+)NCBINCBI36Build 36hg18NCBI36
Build 34168,799,192 - 8,850,684NCBI
Celera169,061,062 - 9,109,970 (+)NCBICelera
Cytogenetic Map16p13.2NCBI
HuRef168,814,114 - 8,864,329 (+)NCBIHuRef
CHM1_1168,891,570 - 8,943,150 (+)NCBICHM1_1
T2T-CHM13v2.0168,830,591 - 8,882,071 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IDA,IEA,TAS)
neuronal cell body  (IEA)
nucleoplasm  (IDA)

Molecular Function

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

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormal liver parenchyma morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal renal tubule morphology  (IAGP)
Abnormal skeletal morphology  (IAGP)
Abnormal subcutaneous fat tissue distribution  (IAGP)
Abnormality of coordination  (IAGP)
Abnormality of the amniotic fluid  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Anasarca  (IAGP)
Angina pectoris  (IAGP)
Anteverted nares  (IAGP)
Aplasia of the ovary  (IAGP)
Areflexia  (IAGP)
Aspiration pneumonia  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral palsy  (IAGP)
Childhood onset  (IAGP)
Congenital onset  (IAGP)
Dandy-Walker malformation  (IAGP)
Death in childhood  (IAGP)
Death in infancy  (IAGP)
Decreased circulating IgA level  (IAGP)
Decreased circulating IgG level  (IAGP)
Decreased testicular size  (IAGP)
Deep venous thrombosis  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Dilated fourth ventricle  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Edema  (IAGP)
Elevated circulating growth hormone concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated circulating thyroid-stimulating hormone concentration  (IAGP)
Enlarged cisterna magna  (IAGP)
Epicanthus  (IAGP)
Esodeviation  (IAGP)
Esotropia  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
Flexion contracture  (IAGP)
Generalized-onset seizure  (IAGP)
Global developmental delay  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatic steatosis  (IAGP)
Hepatomegaly  (IAGP)
High palate  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperplastic labia majora  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoalbuminemia  (IAGP)
Hypocholesterolemia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hyporeflexia  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Impaired antigen-specific response  (IAGP)
Impaired neutrophil chemotaxis  (IAGP)
Increased circulating prolactin concentration  (IAGP)
Infantile onset  (IAGP)
Insulin resistance  (IAGP)
Intellectual disability  (IAGP)
Intention tremor  (IAGP)
Intracranial hemorrhage  (IAGP)
Inverted nipples  (IAGP)
Joint hypermobility  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Lipodystrophy  (IAGP)
Long face  (IAGP)
Long fingers  (IAGP)
Long philtrum  (IAGP)
Lymphedema  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Multiple joint contractures  (IAGP)
Multiple renal cysts  (IAGP)
Muscle weakness  (IAGP)
Muscular dystrophy  (IAGP)
Myopia  (IAGP)
Neonatal onset  (IAGP)
Nephrotic syndrome  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Nystagmus  (IAGP)
Olivopontocerebellar hypoplasia  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Pericardial effusion  (IAGP)
Pericarditis  (IAGP)
Peripheral neuropathy  (IAGP)
Pes planus  (IAGP)
Photoreceptor layer loss on macular OCT  (IAGP)
Platyspondyly  (IAGP)
Polyneuropathy  (IAGP)
Poor speech  (IAGP)
Premature ovarian insufficiency  (IAGP)
Prolonged partial thromboplastin time  (IAGP)
Prolonged prothrombin time  (IAGP)
Prominent forehead  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent nose  (IAGP)
Proteinuria  (IAGP)
Proximal tubulopathy  (IAGP)
Reduced antithrombin III activity  (IAGP)
Reduced factor IX activity  (IAGP)
Reduced factor XI activity  (IAGP)
Reduced thyroxin-binding globulin  (IAGP)
Renal cyst  (IAGP)
Respiratory distress  (IAGP)
Retrognathia  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Spasticity  (IAGP)
Steatorrhea  (IAGP)
Strabismus  (IAGP)
Stroke-like episode  (IAGP)
Thin upper lip vermilion  (IAGP)
Thrombocytosis  (IAGP)
Tremor  (IAGP)
Type I transferrin isoform profile  (IAGP)
Upslanted palpebral fissure  (IAGP)
Villous atrophy  (IAGP)
Vomiting  (IAGP)
Wide mouth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. Bjursell C, etal., Hum Mutat. 2000 Nov;16(5):395-400.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. Kondo I, etal., Clin Genet. 1999 Jan;55(1):50-4.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7874123   PMID:8889548   PMID:9070917   PMID:9140401   PMID:9425221   PMID:9497260   PMID:9781039   PMID:9887379   PMID:10527672   PMID:10571956   PMID:10602363   PMID:10737800  
PMID:10801058   PMID:10922383   PMID:11058895   PMID:11350185   PMID:11404002   PMID:11701646   PMID:11875054   PMID:11891694   PMID:11935250   PMID:12357336   PMID:12477932   PMID:12905014  
PMID:13129599   PMID:15342340   PMID:15489334   PMID:15844218   PMID:17166182   PMID:17307006   PMID:17451957   PMID:17694350   PMID:18203160   PMID:19235233   PMID:20301289   PMID:20301507  
PMID:20638314   PMID:20800603   PMID:21541725   PMID:21873635   PMID:22374380   PMID:22939629   PMID:22944692   PMID:23376485   PMID:23430200   PMID:23988505   PMID:24981860   PMID:25173107  
PMID:25324542   PMID:25355454   PMID:25416956   PMID:25613138   PMID:26014514   PMID:26186194   PMID:26344197   PMID:26488408   PMID:26871637   PMID:27053713   PMID:28065597   PMID:28373276  
PMID:28425223   PMID:28514442   PMID:28940310   PMID:28954837   PMID:29117863   PMID:29467282   PMID:29470411   PMID:29955894   PMID:30061496   PMID:30406445   PMID:30950015   PMID:31091453  
PMID:31266804   PMID:31391289   PMID:31902100   PMID:31981409   PMID:32222543   PMID:32296183   PMID:32344865   PMID:32393512   PMID:32630370   PMID:32687490   PMID:32841164   PMID:33580824  
PMID:33619652   PMID:33811480   PMID:33845483   PMID:33961781   PMID:34828263   PMID:35063084   PMID:35256949   PMID:35789514   PMID:35831314   PMID:35944360   PMID:36688959   PMID:36743691  
PMID:36773065   PMID:37866880   PMID:38113892   PMID:38129426   PMID:38430517  


Genomics

Comparative Map Data
PMM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38168,797,839 - 8,849,325 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl168,788,823 - 8,862,534 (+)EnsemblGRCh38hg38GRCh38
GRCh37168,891,696 - 8,943,182 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36168,799,193 - 8,850,684 (+)NCBINCBI36Build 36hg18NCBI36
Build 34168,799,192 - 8,850,684NCBI
Celera169,061,062 - 9,109,970 (+)NCBICelera
Cytogenetic Map16p13.2NCBI
HuRef168,814,114 - 8,864,329 (+)NCBIHuRef
CHM1_1168,891,570 - 8,943,150 (+)NCBICHM1_1
T2T-CHM13v2.0168,830,591 - 8,882,071 (+)NCBIT2T-CHM13v2.0
Pmm2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39168,455,467 - 8,475,472 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl168,455,538 - 8,480,331 (+)EnsemblGRCm39 Ensembl
GRCm38168,637,613 - 8,657,608 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl168,637,674 - 8,662,467 (+)EnsemblGRCm38mm10GRCm38
MGSCv37168,637,800 - 8,657,617 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36168,553,028 - 8,572,845 (+)NCBIMGSCv36mm8
Celera169,282,962 - 9,302,773 (+)NCBICelera
Cytogenetic Map16A1NCBI
cM Map164.24NCBI
Pmm2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8107,468,371 - 7,489,574 (-)NCBIGRCr8
mRatBN7.2106,961,521 - 6,982,913 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl106,961,709 - 6,983,098 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1011,667,872 - 11,689,039 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01011,164,303 - 11,185,470 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0106,815,584 - 6,836,762 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0107,056,258 - 7,077,443 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl107,056,266 - 7,077,443 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0105,857,616 - 5,878,777 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4107,001,340 - 7,022,517 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1107,001,219 - 7,022,517 (-)NCBI
Celera105,957,089 - 5,978,249 (-)NCBICelera
Cytogenetic Map10q12NCBI
Pmm2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554429,389,443 - 9,411,719 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554429,390,789 - 9,411,722 (-)NCBIChiLan1.0ChiLan1.0
PMM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2189,337,057 - 9,388,790 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11613,121,847 - 13,166,118 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0167,731,266 - 7,782,871 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1168,971,692 - 9,020,406 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl168,971,692 - 9,020,406 (+)Ensemblpanpan1.1panPan2
PMM2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1633,346,969 - 33,371,095 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl633,347,270 - 33,371,025 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha634,737,736 - 34,761,919 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0633,545,561 - 33,569,964 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl633,539,387 - 33,569,889 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1633,348,099 - 33,372,292 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0633,217,995 - 33,242,140 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0633,639,757 - 33,663,961 (-)NCBIUU_Cfam_GSD_1.0
Pmm2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344109,785,252 - 109,803,217 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365307,630,637 - 7,648,676 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365307,630,668 - 7,648,658 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PMM2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl333,857,068 - 33,892,701 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1333,857,059 - 33,892,472 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2334,789,963 - 34,802,890 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PMM2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.158,389,483 - 8,425,605 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl58,389,754 - 8,423,346 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606821,795,734 - 21,831,153 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pmm2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248246,214,193 - 6,244,590 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PMM2
658 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000023149] Chr16:8806377 [GRCh38]
Chr16:8900234 [GRCh37]
Chr16:16p13.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) single nucleotide variant Congenital cerebellar hypoplasia [RCV001257997]|PMM2-congenital disorder of glycosylation [RCV000020235]|not provided [RCV000479820] Chr16:8811146 [GRCh38]
Chr16:8905003 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.653A>T (p.His218Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000020236] Chr16:8847737 [GRCh38]
Chr16:8941594 [GRCh37]
Chr16:16p13.2		 pathogenic|not provided
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) single nucleotide variant Inborn genetic diseases [RCV000623731]|Intellectual disability [RCV001257700]|PMM2-congenital disorder of glycosylation [RCV000020237]|PMM2-related condition [RCV003407349]|not provided [RCV000514240] Chr16:8847794 [GRCh38]
Chr16:8941651 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000303.3(PMM2):c.422G>A (p.Arg141His) single nucleotide variant Cerebellar ataxia [RCV001003990]|Congenital cerebellar hypoplasia [RCV001003989]|Congenital cerebellar hypoplasia [RCV001003991]|Congenital cerebellar hypoplasia [RCV001257998]|Congenital disorder of glycosylation [RCV000991177]|Congenital disorder of glycosylation type I [RCV002255089]|Inborn genetic diseases [RCV000624874]|PMM2-congenital disorder of glycosylation [RCV000008145]|PMM2-related condition [RCV003924813]|not provided [RCV000078590] Chr16:8811153 [GRCh38]
Chr16:8905010 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000008146]|not provided [RCV000724043] Chr16:8847731 [GRCh38]
Chr16:8941588 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.385G>A (p.Val129Met) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000008147]|not provided [RCV000344673] Chr16:8811116 [GRCh38]
Chr16:8904973 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000008148]|not provided [RCV000403363] Chr16:8811674 [GRCh38]
Chr16:8905531 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000008149]|not provided [RCV001530152] Chr16:8804781 [GRCh38]
Chr16:8898638 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) single nucleotide variant Inborn genetic diseases [RCV000624449]|PMM2-congenital disorder of glycosylation [RCV000008150]|not provided [RCV000790706] Chr16:8811088 [GRCh38]
Chr16:8904945 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000008151]|not provided [RCV000790726] Chr16:8813030 [GRCh38]
Chr16:8906887 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.349G>C (p.Gly117Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000008152] Chr16:8811080 [GRCh38]
Chr16:8904937 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.669C>G (p.Asp223Glu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000008153] Chr16:8847753 [GRCh38]
Chr16:8941610 [GRCh37]
Chr16:16p13.2		 pathogenic
PMM2, 357C-A single nucleotide variant Carbohydrate-deficient glycoprotein syndrome type I [RCV000008154] Chr16:16p13.3-p13.2 pathogenic
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) single nucleotide variant Inborn genetic diseases [RCV002512893]|PMM2-congenital disorder of glycosylation [RCV000008155]|See cases [RCV002251889]|not provided [RCV000790820] Chr16:8847794 [GRCh38]
Chr16:8941651 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) single nucleotide variant Inborn genetic diseases [RCV000623621]|PMM2-congenital disorder of glycosylation [RCV000008156]|not provided [RCV000153745] Chr16:8847806 [GRCh38]
Chr16:8941663 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000008157] Chr16:8811126 [GRCh38]
Chr16:8904983 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000303.3(PMM2):c.691G>A (p.Val231Met) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000008158]|not provided [RCV000790822] Chr16:8847775 [GRCh38]
Chr16:8941632 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000008159] Chr16:8797908 [GRCh38]
Chr16:8891765 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000303.3(PMM2):c.95T>G (p.Leu32Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000008160] Chr16:8801827 [GRCh38]
Chr16:8895684 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000008161] Chr16:8847761 [GRCh38]
Chr16:8941618 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) single nucleotide variant Congenital cerebellar hypoplasia [RCV001003988]|PMM2-congenital disorder of glycosylation [RCV000008162]|PMM2-related condition [RCV003952346]|not provided [RCV000790784] Chr16:8806398 [GRCh38]
Chr16:8900255 [GRCh37]
Chr16:16p13.2		 pathogenic
PMM2, IVS7, C-T single nucleotide variant Carbohydrate-deficient glycoprotein syndrome type I [RCV000008163] Chr16:16p13.3-p13.2 pathogenic
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000008164] Chr16:8801863 [GRCh38]
Chr16:8895720 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NC_000016.10:g.8852245_8823657delinsAluYb8 deletion PMM2-congenital disorder of glycosylation [RCV000008165] Chr16:16p13.3-p13.2 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.256-1G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000008166] Chr16:8806315 [GRCh38]
Chr16:8900172 [GRCh37]
Chr16:16p13.2		 pathogenic
GRCh38/hg38 16p13.2(chr16:8767999-8939801)x1 copy number loss See cases [RCV000051149] Chr16:8767999..8939801 [GRCh38]
Chr16:8861856..9033658 [GRCh37]
Chr16:8769357..8941159 [NCBI36]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.2(chr16:8677203-9562709)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052399]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052399]|See cases [RCV000052399] Chr16:8677203..9562709 [GRCh38]
Chr16:8771060..9656566 [GRCh37]
Chr16:8678561..9564067 [NCBI36]
Chr16:16p13.2		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.2(chr16:8752152-8979353)x1 copy number loss See cases [RCV000051999] Chr16:8752152..8979353 [GRCh38]
Chr16:8846009..9073210 [GRCh37]
Chr16:8753510..8980711 [NCBI36]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274] Chr16:4536131..10852466 [GRCh38]
Chr16:4586132..10946323 [GRCh37]
Chr16:4526133..10853824 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.2(chr16:8544481-8903449)x3 copy number gain See cases [RCV000053823] Chr16:8544481..8903449 [GRCh38]
Chr16:8594483..8997306 [GRCh37]
Chr16:8534484..8904807 [NCBI36]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.2(chr16:8752152-9094202)x3 copy number gain See cases [RCV000053824] Chr16:8752152..9094202 [GRCh38]
Chr16:8846009..9188059 [GRCh37]
Chr16:8753510..9095560 [NCBI36]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.2(chr16:8831989-9153027)x3 copy number gain See cases [RCV000053825] Chr16:8831989..9153027 [GRCh38]
Chr16:8925846..9246884 [GRCh37]
Chr16:8833347..9154385 [NCBI36]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.392del (p.Pro131fs) deletion PMM2-congenital disorder of glycosylation [RCV000781733]|not provided [RCV000657181] Chr16:8811120 [GRCh38]
Chr16:8904977 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.179-15dup duplication PMM2-congenital disorder of glycosylation [RCV001831817]|not provided [RCV001711179]|not specified [RCV000078586] Chr16:8804745..8804746 [GRCh38]
Chr16:8898602..8898603 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000178072]|Premature ovarian failure [RCV001270234]|not provided [RCV000078587] Chr16:8806383 [GRCh38]
Chr16:8900240 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000303.3(PMM2):c.441C>G (p.Leu147=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001399381]|not provided [RCV000078591] Chr16:8811172 [GRCh38]
Chr16:8905029 [GRCh37]
Chr16:16p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.447+19T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000612822]|not provided [RCV000586066]|not specified [RCV000078592] Chr16:8811197 [GRCh38]
Chr16:8905054 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000607305]|not provided [RCV002055093]|not specified [RCV000078593] Chr16:8813057 [GRCh38]
Chr16:8906914 [GRCh37]
Chr16:16p13.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000179744]|not provided [RCV000790723] Chr16:8813090 [GRCh38]
Chr16:8906947 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.652C>G (p.His218Asp) single nucleotide variant not provided [RCV000180133] Chr16:8847736 [GRCh38]
Chr16:8941593 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.686A>C (p.Tyr229Ser) single nucleotide variant not provided [RCV000078596] Chr16:8847770 [GRCh38]
Chr16:8941627 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg) indel Inborn genetic diseases [RCV002514383]|PMM2-congenital disorder of glycosylation [RCV000169510]|not provided [RCV000790826] Chr16:8801827..8801828 [GRCh38]
Chr16:8895684..8895685 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000303.3(PMM2):c.324G>A (p.Ala108=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000554451]|not specified [RCV000117997] Chr16:8806384 [GRCh38]
Chr16:8900241 [GRCh37]
Chr16:16p13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) single nucleotide variant Inborn genetic diseases [RCV000624392]|PMM2-congenital disorder of glycosylation [RCV000178754]|PMM2-related condition [RCV003416095]|not provided [RCV000514031] Chr16:8811173 [GRCh38]
Chr16:8905030 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) single nucleotide variant Inborn genetic diseases [RCV002516577]|PMM2-congenital disorder of glycosylation [RCV000669624]|not provided [RCV000173104] Chr16:8797943 [GRCh38]
Chr16:8891800 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3 copy number gain See cases [RCV000136549] Chr16:8241222..9770190 [GRCh38]
Chr16:8291224..9864047 [GRCh37]
Chr16:8231225..9771548 [NCBI36]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.2(chr16:8579327-9143148)x3 copy number gain See cases [RCV000139927] Chr16:8579327..9143148 [GRCh38]
Chr16:8629329..9237005 [GRCh37]
Chr16:8569330..9144506 [NCBI36]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.2(chr16:8767999-8939742)x3 copy number gain See cases [RCV000140292] Chr16:8767999..8939742 [GRCh38]
Chr16:8861856..9033599 [GRCh37]
Chr16:8769357..8941100 [NCBI36]
Chr16:16p13.2		 likely benign
GRCh38/hg38 16p13.2(chr16:8708620-9180671)x1 copy number loss See cases [RCV000139648] Chr16:8708620..9180671 [GRCh38]
Chr16:8802477..9274528 [GRCh37]
Chr16:8709978..9182029 [NCBI36]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
NM_000303.3(PMM2):c.24del (p.Cys9fs) deletion PMM2-congenital disorder of glycosylation [RCV000169057]|PMM2-related condition [RCV003422060]|not provided [RCV001091537] Chr16:8797906 [GRCh38]
Chr16:8891763 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000169083]|See cases [RCV002252013]|not provided [RCV000481553] Chr16:8811660 [GRCh38]
Chr16:8905517 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000576764]|not provided [RCV000254854] Chr16:8811099 [GRCh38]
Chr16:8904956 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000303.3(PMM2):c.1A>G (p.Met1Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000169340] Chr16:8797883 [GRCh38]
Chr16:8891740 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000169562] Chr16:8813087 [GRCh38]
Chr16:8906944 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.337C>T (p.Pro113Ser) single nucleotide variant not provided [RCV000178071] Chr16:8806397 [GRCh38]
Chr16:8900254 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000596795]|not provided [RCV000414479] Chr16:8811161 [GRCh38]
Chr16:8905018 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|uncertain significance
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000675138]|not provided [RCV000485565] Chr16:8847731 [GRCh38]
Chr16:8941588 [GRCh37]
Chr16:16p13.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.713G>A (p.Arg238His) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000555818]|not provided [RCV000513790]|not specified [RCV002282006] Chr16:8847797 [GRCh38]
Chr16:8941654 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.93C>T (p.Phe31=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000864231]|not provided [RCV001697653]|not specified [RCV000291736] Chr16:8801825 [GRCh38]
Chr16:8895682 [GRCh37]
Chr16:16p13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001081852]|PMM2-related condition [RCV003947907]|not provided [RCV000725737]|not specified [RCV000340676] Chr16:8801822 [GRCh38]
Chr16:8895679 [GRCh37]
Chr16:16p13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.2(chr16:8875248-9211047)x3 copy number gain See cases [RCV000240045] Chr16:8875248..9211047 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) single nucleotide variant Inborn genetic diseases [RCV000623763]|PMM2-congenital disorder of glycosylation [RCV001221841]|not provided [RCV001507340] Chr16:8797935 [GRCh38]
Chr16:8891792 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.524-2A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000669095] Chr16:8812989 [GRCh38]
Chr16:8906846 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.347+40G>A single nucleotide variant not provided [RCV001556783]|not specified [RCV000248490] Chr16:8806447 [GRCh38]
Chr16:8900304 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.384C>T (p.Asn128=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000934344]|not specified [RCV000253488] Chr16:8811115 [GRCh38]
Chr16:8904972 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.447+22T>A single nucleotide variant not provided [RCV001568132]|not specified [RCV000249189] Chr16:8811200 [GRCh38]
Chr16:8905057 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.*1032C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000282454] Chr16:8848857 [GRCh38]
Chr16:8942714 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.640-12G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000284285] Chr16:8847712 [GRCh38]
Chr16:8941569 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.*994A>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000267332] Chr16:8848819 [GRCh38]
Chr16:8942676 [GRCh37]
Chr16:16p13.2		 benign|uncertain significance
NM_000303.3(PMM2):c.*1297C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000304186] Chr16:8849122 [GRCh38]
Chr16:8942979 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*17G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000304288]|not provided [RCV001705480] Chr16:8847842 [GRCh38]
Chr16:8941699 [GRCh37]
Chr16:16p13.2		 benign|likely benign|uncertain significance
NM_000303.3(PMM2):c.*1195G>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000289181] Chr16:8849020 [GRCh38]
Chr16:8942877 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*276C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000272608] Chr16:8848101 [GRCh38]
Chr16:8941958 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*1086G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000292877] Chr16:8848911 [GRCh38]
Chr16:8942768 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*96G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000275071]|not provided [RCV001643000] Chr16:8847921 [GRCh38]
Chr16:8941778 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.*1348A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000259623] Chr16:8849173 [GRCh38]
Chr16:8943030 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000541854]|not specified [RCV000605700] Chr16:8801842 [GRCh38]
Chr16:8895699 [GRCh37]
Chr16:16p13.2		 benign|likely benign|uncertain significance
NM_000303.3(PMM2):c.*1224C>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000390503] Chr16:8849049 [GRCh38]
Chr16:8942906 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_000303.3(PMM2):c.*1219C>T single nucleotide variant Congenital disorder of glycosylation [RCV000344435] Chr16:8849044 [GRCh38]
Chr16:8942901 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*136A>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000311429]|not provided [RCV001675812] Chr16:8847961 [GRCh38]
Chr16:8941818 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.*1434C>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000274564] Chr16:8849259 [GRCh38]
Chr16:8943116 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.693G>A (p.Val231=) single nucleotide variant not provided [RCV000306978] Chr16:8847777 [GRCh38]
Chr16:8941634 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.441C>T (p.Leu147=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001079424]|not provided [RCV000340512] Chr16:8811172 [GRCh38]
Chr16:8905029 [GRCh37]
Chr16:16p13.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000303.2(PMM2):c.-70G>A single nucleotide variant Congenital disorder of glycosylation [RCV000346929] Chr16:8797813 [GRCh38]
Chr16:8891670 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*175G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000276181]|not provided [RCV001618563] Chr16:8848000 [GRCh38]
Chr16:8941857 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001366998]|not provided [RCV000310325] Chr16:8811083 [GRCh38]
Chr16:8904940 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*252C>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000326434]|not provided [RCV001712039] Chr16:8848077 [GRCh38]
Chr16:8941934 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.*1136T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000397954] Chr16:8848961 [GRCh38]
Chr16:8942818 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*997A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000317823] Chr16:8848822 [GRCh38]
Chr16:8942679 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.*658C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000398606] Chr16:8848483 [GRCh38]
Chr16:8942340 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*1032C>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000372359] Chr16:8848857 [GRCh38]
Chr16:8942714 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.366C>T (p.Phe122=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000877168]|PMM2-related condition [RCV003930037]|not specified [RCV000280043] Chr16:8811097 [GRCh38]
Chr16:8904954 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.*1297C>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000400478] Chr16:8849122 [GRCh38]
Chr16:8942979 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.399A>G (p.Gly133=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002519294]|not provided [RCV000283523] Chr16:8811130 [GRCh38]
Chr16:8904987 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_000303.3(PMM2):c.*1259C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000309288] Chr16:8849084 [GRCh38]
Chr16:8942941 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.*368C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000376802]|not provided [RCV003418010] Chr16:8848193 [GRCh38]
Chr16:8942050 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_000303.3(PMM2):c.-34C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000402410] Chr16:8797849 [GRCh38]
Chr16:8891706 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.447+4C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000331528]|not specified [RCV000420885] Chr16:8811182 [GRCh38]
Chr16:8905039 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_000303.3(PMM2):c.*1301del deletion Congenital disorder of glycosylation [RCV000354469] Chr16:8849126 [GRCh38]
Chr16:8942983 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*833G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000310799] Chr16:8848658 [GRCh38]
Chr16:8942515 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*1074T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000387395] Chr16:8848899 [GRCh38]
Chr16:8942756 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*891C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000265128] Chr16:8848716 [GRCh38]
Chr16:8942573 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.255+2T>C single nucleotide variant Intellectual disability [RCV001257699]|PMM2-congenital disorder of glycosylation [RCV000410938]|not provided [RCV001550143] Chr16:8804845 [GRCh38]
Chr16:8898702 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.*275A>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000381082] Chr16:8848100 [GRCh38]
Chr16:8941957 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.552T>C (p.Pro184=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000382424]|PMM2-related condition [RCV003897733] Chr16:8813019 [GRCh38]
Chr16:8906876 [GRCh37]
Chr16:16p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.*26C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000335918] Chr16:8847851 [GRCh38]
Chr16:8941708 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*534G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000393186] Chr16:8848359 [GRCh38]
Chr16:8942216 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.389C>G (p.Ser130Cys) single nucleotide variant not provided [RCV000395684] Chr16:8811120 [GRCh38]
Chr16:8904977 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*560A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000312847] Chr16:8848385 [GRCh38]
Chr16:8942242 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.597C>T (p.Asp199=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000892301]|not specified [RCV000612020] Chr16:8813064 [GRCh38]
Chr16:8906921 [GRCh37]
Chr16:16p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.*492C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000338580]|not provided [RCV002510855] Chr16:8848317 [GRCh38]
Chr16:8942174 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_000303.3(PMM2):c.*476C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000278902] Chr16:8848301 [GRCh38]
Chr16:8942158 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*10G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000339366]|not specified [RCV000420413] Chr16:8847835 [GRCh38]
Chr16:8941692 [GRCh37]
Chr16:16p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.*972C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000362040] Chr16:8848797 [GRCh38]
Chr16:8942654 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*53G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000300916] Chr16:8847878 [GRCh38]
Chr16:8941735 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.593A>C (p.Asn198Thr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000347869] Chr16:8813060 [GRCh38]
Chr16:8906917 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*52C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000402244] Chr16:8847877 [GRCh38]
Chr16:8941734 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.339G>A (p.Pro113=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001078675]|not provided [RCV000299234] Chr16:8806399 [GRCh38]
Chr16:8900256 [GRCh37]
Chr16:16p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000670646]|not provided [RCV000367998]|not specified [RCV003155149] Chr16:8804788 [GRCh38]
Chr16:8898645 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.*1063C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000318917] Chr16:8848888 [GRCh38]
Chr16:8942745 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*1360C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000319517] Chr16:8849185 [GRCh38]
Chr16:8943042 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_000303.3(PMM2):c.*410A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000342074] Chr16:8848235 [GRCh38]
Chr16:8942092 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*791G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000390225] Chr16:8848616 [GRCh38]
Chr16:8942473 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001116351]|not provided [RCV000370442]|not specified [RCV001820835] Chr16:8847741 [GRCh38]
Chr16:8941598 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.67-119T>A single nucleotide variant not provided [RCV001545065] Chr16:8801680 [GRCh38]
Chr16:8895537 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000675084]|not provided [RCV000487831]|not specified [RCV000780613] Chr16:8801823 [GRCh38]
Chr16:8895680 [GRCh37]
Chr16:16p13.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000490462] Chr16:8813047 [GRCh38]
Chr16:8906904 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.*733C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000364181] Chr16:8848558 [GRCh38]
Chr16:8942415 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*888A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000365489] Chr16:8848713 [GRCh38]
Chr16:8942570 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*588G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000349201] Chr16:8848413 [GRCh38]
Chr16:8942270 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*959C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000321396] Chr16:8848784 [GRCh38]
Chr16:8942641 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*1103C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000352491] Chr16:8848928 [GRCh38]
Chr16:8942785 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*137G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000370720] Chr16:8847962 [GRCh38]
Chr16:8941819 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*383C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000287016] Chr16:8848208 [GRCh38]
Chr16:8942065 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*81C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000355756] Chr16:8847906 [GRCh38]
Chr16:8941763 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*423G>C single nucleotide variant Congenital disorder of glycosylation [RCV000373429] Chr16:8848248 [GRCh38]
Chr16:8942105 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*1375G>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000355682] Chr16:8849200 [GRCh38]
Chr16:8943057 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*365G>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000327620] Chr16:8848190 [GRCh38]
Chr16:8942047 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*1260C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000359401] Chr16:8849085 [GRCh38]
Chr16:8942942 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*674G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000314225] Chr16:8848499 [GRCh38]
Chr16:8942356 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.2(PMM2):c.*1516C>G single nucleotide variant Congenital disorder of glycosylation [RCV000300178] Chr16:8849341 [GRCh38]
Chr16:8943198 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.348-58_348-56dup duplication not provided [RCV000587696] Chr16:8811020..8811021 [GRCh38]
Chr16:8904877..8904878 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.448-20dup duplication not specified [RCV000605604] Chr16:8811617..8811618 [GRCh38]
Chr16:8905474..8905475 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.324del (p.Ile110fs) deletion PMM2-congenital disorder of glycosylation [RCV000670380]|not provided [RCV000599337] Chr16:8806384 [GRCh38]
Chr16:8900241 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.426T>G (p.Ile142Met) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001271491]|not provided [RCV000589576] Chr16:8811157 [GRCh38]
Chr16:8905014 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000409367]|not provided [RCV001545880] Chr16:8804793 [GRCh38]
Chr16:8898650 [GRCh37]
Chr16:16p13.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000303.3(PMM2):c.189del (p.Lys63fs) deletion PMM2-congenital disorder of glycosylation [RCV000409395] Chr16:8804773 [GRCh38]
Chr16:8898630 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.355T>C (p.Phe119Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000409396] Chr16:8811086 [GRCh38]
Chr16:8904943 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000409634]|not provided [RCV001584105] Chr16:8811648 [GRCh38]
Chr16:8905505 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.639+1G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000409903] Chr16:8813107 [GRCh38]
Chr16:8906964 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.347+1G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000409924] Chr16:8806408 [GRCh38]
Chr16:8900265 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.256-2A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000410134] Chr16:8806314 [GRCh38]
Chr16:8900171 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.27C>A (p.Cys9Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000410306] Chr16:8797909 [GRCh38]
Chr16:8891766 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000410575] Chr16:8813027 [GRCh38]
Chr16:8906884 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.511dup (p.Thr171fs) duplication PMM2-congenital disorder of glycosylation [RCV000411679]|See cases [RCV002252107] Chr16:8811700..8811701 [GRCh38]
Chr16:8905557..8905558 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.306C>T (p.Tyr102=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001472600]|not provided [RCV000729255] Chr16:8806366 [GRCh38]
Chr16:8900223 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_000303.3(PMM2):c.345dup (p.Arg116fs) duplication PMM2-congenital disorder of glycosylation [RCV000408959] Chr16:8806404..8806405 [GRCh38]
Chr16:8900261..8900262 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.414del (p.Glu139fs) deletion Inborn genetic diseases [RCV002524618]|PMM2-congenital disorder of glycosylation [RCV000408989] Chr16:8811144 [GRCh38]
Chr16:8905001 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.2(chr16:8899897-9050878)x3 copy number gain See cases [RCV000449269] Chr16:8899897..9050878 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8862211-9287762)x3 copy number gain See cases [RCV000449293] Chr16:8862211..9287762 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
NM_000303.3(PMM2):c.348-19G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003509536]|not specified [RCV000434988] Chr16:8811060 [GRCh38]
Chr16:8904917 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.*2G>A single nucleotide variant PMM2-related condition [RCV003972628]|not specified [RCV000435308] Chr16:8847827 [GRCh38]
Chr16:8941684 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.*18C>T single nucleotide variant not specified [RCV000421902] Chr16:8847843 [GRCh38]
Chr16:8941700 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.-15C>G single nucleotide variant not specified [RCV000428989] Chr16:8797868 [GRCh38]
Chr16:8891725 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002524853]|not provided [RCV000426961] Chr16:8801889 [GRCh38]
Chr16:8895746 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.348-8A>G single nucleotide variant not specified [RCV000419829] Chr16:8811071 [GRCh38]
Chr16:8904928 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.*19G>A single nucleotide variant not specified [RCV000436906] Chr16:8847844 [GRCh38]
Chr16:8941701 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.310C>G (p.Leu104Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002524829]|not provided [RCV000437277] Chr16:8806370 [GRCh38]
Chr16:8900227 [GRCh37]
Chr16:16p13.2		 pathogenic
GRCh37/hg19 16p13.2(chr16:8796001-9015505)x3 copy number gain See cases [RCV000447952] Chr16:8796001..9015505 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8861856-8891690)x3 copy number gain See cases [RCV000448659] Chr16:8861856..8891690 [GRCh37]
Chr16:16p13.2		 likely benign
GRCh37/hg19 16p13.2(chr16:8850768-9216009)x3 copy number gain See cases [RCV000447730] Chr16:8850768..9216009 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000984293]|not provided [RCV000482436] Chr16:8806397 [GRCh38]
Chr16:8900254 [GRCh37]
Chr16:16p13.2		 likely pathogenic|uncertain significance
NM_000303.3(PMM2):c.255+1G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000477824] Chr16:8804844 [GRCh38]
Chr16:8898701 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.447+5G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002525778]|not provided [RCV000487388] Chr16:8811183 [GRCh38]
Chr16:8905040 [GRCh37]
Chr16:16p13.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.367C>T (p.Arg123Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001174875]|not provided [RCV000492943] Chr16:8811098 [GRCh38]
Chr16:8904955 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.178+2T>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000669287] Chr16:8801912 [GRCh38]
Chr16:8895769 [GRCh37]
Chr16:16p13.2		 likely pathogenic
GRCh37/hg19 16p13.2(chr16:8836233-9454914)x3 copy number gain See cases [RCV000511251] Chr16:8836233..9454914 [GRCh37]
Chr16:16p13.2		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001040981]|not provided [RCV000514233] Chr16:8812994 [GRCh38]
Chr16:8906851 [GRCh37]
Chr16:16p13.2		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000636240]|not provided [RCV001597192] Chr16:8801910 [GRCh38]
Chr16:8895767 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
NM_000303.3(PMM2):c.490G>A (p.Glu164Lys) single nucleotide variant Inborn genetic diseases [RCV003281241] Chr16:8811680 [GRCh38]
Chr16:8905537 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000672270] Chr16:8813085 [GRCh38]
Chr16:8906942 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.640-13C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002063280]|PMM2-related condition [RCV003962767]|not provided [RCV001697549] Chr16:8847711 [GRCh38]
Chr16:8941568 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.-35A>T single nucleotide variant not specified [RCV000611805] Chr16:8797848 [GRCh38]
Chr16:8891705 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.639+19G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002066860]|not specified [RCV000611977] Chr16:8813125 [GRCh38]
Chr16:8906982 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000668971] Chr16:8847724 [GRCh38]
Chr16:8941581 [GRCh37]
Chr16:16p13.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000016.10:g.(?_8804742)_(8813126_?)del deletion PMM2-congenital disorder of glycosylation [RCV000636241] Chr16:8804742..8813126 [GRCh38]
Chr16:8898599..8906983 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.127G>A (p.Val43Met) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000590850] Chr16:8801859 [GRCh38]
Chr16:8895716 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.408C>T (p.Cys136=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002060175]|not provided [RCV000513368] Chr16:8811139 [GRCh38]
Chr16:8904996 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_000303.3(PMM2):c.67-2A>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000673093] Chr16:8801797 [GRCh38]
Chr16:8895654 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.737_739del (p.Ser246del) deletion PMM2-congenital disorder of glycosylation [RCV000673361] Chr16:8847819..8847821 [GRCh38]
Chr16:8941676..8941678 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.554A>G (p.Asp185Gly) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000668948] Chr16:8813021 [GRCh38]
Chr16:8906878 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000665751] Chr16:8806365 [GRCh38]
Chr16:8900222 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.179-1G>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000665818] Chr16:8804766 [GRCh38]
Chr16:8898623 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.653dup (p.His218fs) duplication PMM2-congenital disorder of glycosylation [RCV000668477] Chr16:8847736..8847737 [GRCh38]
Chr16:8941593..8941594 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000668655] Chr16:8797926 [GRCh38]
Chr16:8891783 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.348-2A>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000666216] Chr16:8811077 [GRCh38]
Chr16:8904934 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.190del (p.Tyr64fs) deletion PMM2-congenital disorder of glycosylation [RCV000670499]|PMM2-related condition [RCV003411579] Chr16:8804778 [GRCh38]
Chr16:8898635 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.640-15479C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000665521] Chr16:8832245 [GRCh38]
Chr16:8926102 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.432C>A (p.Phe144Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000670622] Chr16:8811163 [GRCh38]
Chr16:8905020 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.341AGA[1] (p.Lys115del) microsatellite Inborn genetic diseases [RCV002531277]|PMM2-congenital disorder of glycosylation [RCV000671336] Chr16:8806399..8806401 [GRCh38]
Chr16:8900256..8900258 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000671748]|not provided [RCV001756139]|not specified [RCV001824863] Chr16:8801856 [GRCh38]
Chr16:8895713 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000670926]|PMM2-related condition [RCV003424274] Chr16:8811090 [GRCh38]
Chr16:8904947 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000303.3(PMM2):c.523+3A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000667764] Chr16:8811716 [GRCh38]
Chr16:8905573 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.451_454del microsatellite PMM2-congenital disorder of glycosylation [RCV000675031] Chr16:8811636..8811639 [GRCh38]
Chr16:8905493..8905496 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000665976] Chr16:8813017 [GRCh38]
Chr16:8906874 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.454_455del (p.Asn152fs) deletion PMM2-congenital disorder of glycosylation [RCV000666045] Chr16:8811642..8811643 [GRCh38]
Chr16:8905499..8905500 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.617del (p.Phe206fs) deletion PMM2-congenital disorder of glycosylation [RCV000667136] Chr16:8813082 [GRCh38]
Chr16:8906939 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000665572] Chr16:8847735 [GRCh38]
Chr16:8941592 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000672483] Chr16:8847787 [GRCh38]
Chr16:8941644 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000674823]|not specified [RCV002509506] Chr16:8847823 [GRCh38]
Chr16:8941680 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.66+1del deletion PMM2-congenital disorder of glycosylation [RCV000665463] Chr16:8797948 [GRCh38]
Chr16:8891805 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) single nucleotide variant Inborn genetic diseases [RCV002532044]|PMM2-congenital disorder of glycosylation [RCV000665622]|not provided [RCV002286774] Chr16:8811152 [GRCh38]
Chr16:8905009 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|uncertain significance
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000665844] Chr16:8801836 [GRCh38]
Chr16:8895693 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.348-1G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000666215] Chr16:8811078 [GRCh38]
Chr16:8904935 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000673598]|not provided [RCV001536229] Chr16:8797925 [GRCh38]
Chr16:8891782 [GRCh37]
Chr16:16p13.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.179-15del deletion PMM2-congenital disorder of glycosylation [RCV000673726] Chr16:8804746 [GRCh38]
Chr16:8898603 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.640-25_640-22dup duplication PMM2-congenital disorder of glycosylation [RCV000673730] Chr16:8847697..8847698 [GRCh38]
Chr16:8941554..8941555 [GRCh37]
Chr16:16p13.2		 likely benign
GRCh37/hg19 16p13.2(chr16:8797797-9558289)x3 copy number gain not provided [RCV000683757] Chr16:8797797..9558289 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
NC_000016.10:g.(?_8847701)_(8847835_?)del deletion PMM2-congenital disorder of glycosylation [RCV000819895] Chr16:8847701..8847835 [GRCh38]
Chr16:8941558..8941692 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.2(chr16:8013796-8913804)x3 copy number gain not provided [RCV000751561] Chr16:8013796..8913804 [GRCh37]
Chr16:16p13.2		 benign
GRCh37/hg19 16p13.2(chr16:8828410-9028645)x3 copy number gain not provided [RCV000751570] Chr16:8828410..9028645 [GRCh37]
Chr16:16p13.2		 benign
GRCh37/hg19 16p13.2(chr16:8942216-8956703)x3 copy number gain not provided [RCV000751571] Chr16:8942216..8956703 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.61C>G (p.Arg21Gly) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003463060]|not provided [RCV001702986] Chr16:8797943 [GRCh38]
Chr16:8891800 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.640-15606C>T single nucleotide variant not provided [RCV001544692] Chr16:8832118 [GRCh38]
Chr16:8925975 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.256-10C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000977608] Chr16:8806306 [GRCh38]
Chr16:8900163 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.524-275C>T single nucleotide variant not provided [RCV001666715] Chr16:8812716 [GRCh38]
Chr16:8906573 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.255+278G>A single nucleotide variant not provided [RCV001576798] Chr16:8805121 [GRCh38]
Chr16:8898978 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.503A>G (p.Lys168Arg) single nucleotide variant Inborn genetic diseases [RCV003268267] Chr16:8811693 [GRCh38]
Chr16:8905550 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.10:g.(?_8804742)_(8813116_?)del deletion PMM2-congenital disorder of glycosylation [RCV001031218] Chr16:8898599..8906973 [GRCh37]
Chr16:16p13.2		 pathogenic
NC_000016.10:g.(?_8804742)_(8806417_?)del deletion PMM2-congenital disorder of glycosylation [RCV001031315] Chr16:8898599..8900274 [GRCh37]
Chr16:16p13.2		 pathogenic
NC_000016.10:g.(?_8772760)_(8847845_?)dup duplication PMM2-congenital disorder of glycosylation [RCV001032646] Chr16:8866617..8941702 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.639+57A>G single nucleotide variant not provided [RCV001577803] Chr16:8813163 [GRCh38]
Chr16:8907020 [GRCh37]
Chr16:16p13.2		 likely benign
NC_000016.10:g.(?_8781289)_(8847845_?)dup duplication PMM2-congenital disorder of glycosylation [RCV001033675] Chr16:8875146..8941702 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.127G>T (p.Val43Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001043184] Chr16:8801859 [GRCh38]
Chr16:8895716 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.573C>T (p.Tyr191=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000941989] Chr16:8813040 [GRCh38]
Chr16:8906897 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.66+13_66+20del deletion PMM2-congenital disorder of glycosylation [RCV001480567] Chr16:8797958..8797965 [GRCh38]
Chr16:8891815..8891822 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.24C>G (p.Leu8=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001500115] Chr16:8797906 [GRCh38]
Chr16:8891763 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.15C>A (p.Gly5=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001441329] Chr16:8797897 [GRCh38]
Chr16:8891754 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.699G>A (p.Ala233=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000944482] Chr16:8847783 [GRCh38]
Chr16:8941640 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.284del (p.Leu95fs) deletion PMM2-congenital disorder of glycosylation [RCV000779199] Chr16:8806344 [GRCh38]
Chr16:8900201 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.634A>G (p.Met212Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000877159]|not specified [RCV000780610] Chr16:8813101 [GRCh38]
Chr16:8906958 [GRCh37]
Chr16:16p13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.135C>T (p.Gly45=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000903136]|PMM2-related condition [RCV003895503] Chr16:8801867 [GRCh38]
Chr16:8895724 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.524-4del deletion PMM2-congenital disorder of glycosylation [RCV001483452] Chr16:8812986 [GRCh38]
Chr16:8906843 [GRCh37]
Chr16:16p13.2		 likely benign
GRCh37/hg19 16p13.2(chr16:8839796-9728670) copy number loss not provided [RCV000767575] Chr16:8839796..9728670 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.390C>T (p.Ser130=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000917800] Chr16:8811121 [GRCh38]
Chr16:8904978 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.256-7C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000942378] Chr16:8806309 [GRCh38]
Chr16:8900166 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.179-4G>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000978181] Chr16:8804763 [GRCh38]
Chr16:8898620 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) single nucleotide variant Inborn genetic diseases [RCV002535677]|PMM2-congenital disorder of glycosylation [RCV000780611]|not provided [RCV001547621] Chr16:8801841 [GRCh38]
Chr16:8895698 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.640-9T>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000780609] Chr16:8847715 [GRCh38]
Chr16:8941572 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.66+1G>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000780612] Chr16:8797949 [GRCh38]
Chr16:8891806 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.55del (p.Ala19fs) deletion PMM2-congenital disorder of glycosylation [RCV000816023] Chr16:8797937 [GRCh38]
Chr16:8891794 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000871793]|PMM2-related condition [RCV003948174] Chr16:8847796 [GRCh38]
Chr16:8941653 [GRCh37]
Chr16:16p13.2		 benign|likely benign|conflicting interpretations of pathogenicity
NC_000016.10:g.(?_8811069)_(8832245_?)del deletion PMM2-congenital disorder of glycosylation [RCV000824658] Chr16:8811069..8832245 [GRCh38]
Chr16:8904926..8926102 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.524-6C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000976222] Chr16:8812985 [GRCh38]
Chr16:8906842 [GRCh37]
Chr16:16p13.2		 likely benign
NC_000016.10:g.8797953G>A single nucleotide variant not provided [RCV000840179] Chr16:8891810 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000791923]|not provided [RCV001091538] Chr16:8847766 [GRCh38]
Chr16:8941623 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.447+7C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001392308] Chr16:8811185 [GRCh38]
Chr16:8905042 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.545T>A (p.Val182Asp) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000796028] Chr16:8813012 [GRCh38]
Chr16:8906869 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8837843-9157022)x3 copy number gain not provided [RCV000848748] Chr16:8837843..9157022 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8800618-9302688)x3 copy number gain not provided [RCV000849972] Chr16:8800618..9302688 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.66+5G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000792755]|not provided [RCV000840179] Chr16:8797953 [GRCh38]
Chr16:8891810 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
GRCh37/hg19 16p13.2(chr16:8903059-8933005)x1 copy number loss not provided [RCV000847958] Chr16:8903059..8933005 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000822111]|not specified [RCV002282385] Chr16:8797934 [GRCh38]
Chr16:8891791 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000795195] Chr16:8847771 [GRCh38]
Chr16:8941628 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.-167G>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000813204]|not provided [RCV002225740] Chr16:8797716 [GRCh38]
Chr16:8891573 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.559T>C (p.Trp187Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001054222] Chr16:8813026 [GRCh38]
Chr16:8906883 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.10:g.(?_8847701)_(8847845_?)del deletion PMM2-congenital disorder of glycosylation [RCV001033860] Chr16:8941558..8941702 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NC_000016.10:g.(?_8797873)_(8813116_?)del deletion PMM2-congenital disorder of glycosylation [RCV000792148] Chr16:8797873..8813116 [GRCh38]
Chr16:8891730..8906973 [GRCh37]
Chr16:16p13.2		 pathogenic
NC_000016.9:g.(?_8851594)_(8941702_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV000817955] Chr16:8757737..8847845 [GRCh38]
Chr16:8851594..8941702 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.548T>C (p.Phe183Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000807161] Chr16:8813015 [GRCh38]
Chr16:8906872 [GRCh37]
Chr16:16p13.2		 pathogenic
GRCh37/hg19 16p13.2(chr16:8884484-8992578)x3 copy number gain not provided [RCV000845949] Chr16:8884484..8992578 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8797797-8992828)x3 copy number gain not provided [RCV000847046] Chr16:8797797..8992828 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.463C>T (p.Gln155Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000812858] Chr16:8811653 [GRCh38]
Chr16:8905510 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.*1380A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001118013] Chr16:8849205 [GRCh38]
Chr16:8943062 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*255A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001119369] Chr16:8848080 [GRCh38]
Chr16:8941937 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*1352G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001116566] Chr16:8849177 [GRCh38]
Chr16:8943034 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.10:g.(?_8779459)_(8847845_?)del deletion PMM2-congenital disorder of glycosylation [RCV000819231] Chr16:8779459..8847845 [GRCh38]
Chr16:8873316..8941702 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.162G>A (p.Glu54=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001418975] Chr16:8801894 [GRCh38]
Chr16:8895751 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.14G>A (p.Gly5Asp) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001070757] Chr16:8797896 [GRCh38]
Chr16:8891753 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.10:g.(?_8764049)_(8811733_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001031564]|PMM2-congenital disorder of glycosylation [RCV003106102] Chr16:8857906..8905590 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*695C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001116453] Chr16:8848520 [GRCh38]
Chr16:8942377 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8690029-9479483)x4 copy number gain not provided [RCV000847479] Chr16:8690029..9479483 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.394A>T (p.Ile132Phe) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001009608] Chr16:8811125 [GRCh38]
Chr16:8904982 [GRCh37]
Chr16:16p13.2		 pathogenic
NC_000016.10:g.(?_8735720)_(10180431_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001031940] Chr16:8829577..10274288 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8797797-8913114)x3 copy number gain not provided [RCV000846391] Chr16:8797797..8913114 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000989519]|PMM2-related condition [RCV003936246]|not provided [RCV003332275] Chr16:8801829 [GRCh38]
Chr16:8895686 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NC_000016.10:g.(?_8797873)_(8797958_?)del deletion PMM2-congenital disorder of glycosylation [RCV001031202] Chr16:8891730..8891815 [GRCh37]
Chr16:16p13.2		 pathogenic
NC_000016.10:g.(?_8804742)_(8804853_?)del deletion PMM2-congenital disorder of glycosylation [RCV001031322] Chr16:8898599..8898710 [GRCh37]
Chr16:16p13.2		 pathogenic
GRCh37/hg19 16p13.2(chr16:8797797-8907325)x3 copy number gain not provided [RCV000846082] Chr16:8797797..8907325 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8913120-9199036)x3 copy number gain not provided [RCV000849121] Chr16:8913120..9199036 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8821978-8959376)x3 copy number gain not provided [RCV000847559] Chr16:8821978..8959376 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8763909-9274576)x3 copy number gain not provided [RCV000847142] Chr16:8763909..9274576 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8899460-9205868)x3 copy number gain not provided [RCV000847546] Chr16:8899460..9205868 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8815381-8933009)x3 copy number gain not provided [RCV000845887] Chr16:8815381..8933009 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8776408-8950829)x1 copy number loss not provided [RCV001006761] Chr16:8776408..8950829 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8941963-9166296)x3 copy number gain not provided [RCV000846878] Chr16:8941963..9166296 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.738C>G (p.Ser246=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001243450] Chr16:8847822 [GRCh38]
Chr16:8941679 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_000303.3(PMM2):c.448-1_448del deletion PMM2-congenital disorder of glycosylation [RCV001241609]|not provided [RCV001819940] Chr16:8811636..8811637 [GRCh38]
Chr16:8905493..8905494 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.524-5G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001241753]|not specified [RCV001819941] Chr16:8812986 [GRCh38]
Chr16:8906843 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000850396]|not specified [RCV002265902] Chr16:8797940 [GRCh38]
Chr16:8891797 [GRCh37]
Chr16:16p13.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.2(chr16:8913113-9250159)x3 copy number gain not provided [RCV000845677] Chr16:8913113..9250159 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*477G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001121372] Chr16:8848302 [GRCh38]
Chr16:8942159 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*915T>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001117912] Chr16:8848740 [GRCh38]
Chr16:8942597 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.*1440C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001118015] Chr16:8849265 [GRCh38]
Chr16:8943122 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8829597)_(11683693_?)dup duplication Landau-Kleffner syndrome [RCV003105356] Chr16:8829597..11683693 [GRCh37]
Chr16:16p13.2-13.13		 uncertain significance
NM_000303.3(PMM2):c.255+153A>G single nucleotide variant not provided [RCV001576728] Chr16:8804996 [GRCh38]
Chr16:8898853 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.524-30G>A single nucleotide variant not provided [RCV001577720] Chr16:8812961 [GRCh38]
Chr16:8906818 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.279G>A (p.Glu93=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003106850] Chr16:8806339 [GRCh38]
Chr16:8900196 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.447+187A>C single nucleotide variant not provided [RCV001655071] Chr16:8811365 [GRCh38]
Chr16:8905222 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.67-300A>T single nucleotide variant not provided [RCV001686073] Chr16:8801499 [GRCh38]
Chr16:8895356 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.524-309C>A single nucleotide variant not provided [RCV001638906] Chr16:8812682 [GRCh38]
Chr16:8906539 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.639+30T>C single nucleotide variant not provided [RCV001576467] Chr16:8813136 [GRCh38]
Chr16:8906993 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.640-46G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001832745]|not provided [RCV001550819] Chr16:8847678 [GRCh38]
Chr16:8941535 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.640-15672C>T single nucleotide variant not provided [RCV001577026] Chr16:8832052 [GRCh38]
Chr16:8925909 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.640-28C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001832759]|PMM2-related condition [RCV003921215]|not provided [RCV001556993] Chr16:8847696 [GRCh38]
Chr16:8941553 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.67-120A>T single nucleotide variant not provided [RCV001714383] Chr16:8801679 [GRCh38]
Chr16:8895536 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.523+139A>G single nucleotide variant not provided [RCV001562705] Chr16:8811852 [GRCh38]
Chr16:8905709 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.640-15215C>T single nucleotide variant not provided [RCV001558219] Chr16:8832509 [GRCh38]
Chr16:8926366 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.348-5C>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000933190] Chr16:8811074 [GRCh38]
Chr16:8904931 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.639+10G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000909974] Chr16:8813116 [GRCh38]
Chr16:8906973 [GRCh37]
Chr16:16p13.2		 likely benign|conflicting interpretations of pathogenicity
NM_000303.3(PMM2):c.414A>G (p.Gln138=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV000942091] Chr16:8811145 [GRCh38]
Chr16:8905002 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.490G>C (p.Glu164Gln) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001121270] Chr16:8811680 [GRCh38]
Chr16:8905537 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.410G>C (p.Ser137Thr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001219093] Chr16:8811141 [GRCh38]
Chr16:8904998 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.595G>C (p.Asp199His) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001219991] Chr16:8813062 [GRCh38]
Chr16:8906919 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.300C>T (p.Ile100=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002542276] Chr16:8806360 [GRCh38]
Chr16:8900217 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.348-9C>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002068683] Chr16:8811070 [GRCh38]
Chr16:8904927 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.640-330C>A single nucleotide variant not provided [RCV001557390] Chr16:8847394 [GRCh38]
Chr16:8941251 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.640G>C (p.Gly214Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003230905] Chr16:8847724 [GRCh38]
Chr16:8941581 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.59C>G (p.Pro20Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001036026] Chr16:8797941 [GRCh38]
Chr16:8891798 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.56C>T (p.Ala19Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001038250] Chr16:8797938 [GRCh38]
Chr16:8891795 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.255+272C>T single nucleotide variant not provided [RCV001621671] Chr16:8805115 [GRCh38]
Chr16:8898972 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.178+142C>A single nucleotide variant not provided [RCV001621677] Chr16:8802052 [GRCh38]
Chr16:8895909 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.640-332_640-331dup duplication not provided [RCV001536524] Chr16:8847377..8847378 [GRCh38]
Chr16:8941234..8941235 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.178+299G>C single nucleotide variant not provided [RCV001608516] Chr16:8802209 [GRCh38]
Chr16:8896066 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.255+111A>T single nucleotide variant not provided [RCV001714372] Chr16:8804954 [GRCh38]
Chr16:8898811 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.640-15556A>C single nucleotide variant not provided [RCV001637681] Chr16:8832168 [GRCh38]
Chr16:8926025 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.178+327G>A single nucleotide variant not provided [RCV001617987] Chr16:8802237 [GRCh38]
Chr16:8896094 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.*166C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001117801]|not provided [RCV001537176] Chr16:8847991 [GRCh38]
Chr16:8941848 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.347+15A>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001119270] Chr16:8806422 [GRCh38]
Chr16:8900279 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.*1218A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001121459] Chr16:8849043 [GRCh38]
Chr16:8942900 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*1072A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001119462] Chr16:8848897 [GRCh38]
Chr16:8942754 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.10:g.(?_8768173)_(8832245_?)dup duplication PMM2-congenital disorder of glycosylation [RCV001032198] Chr16:8862030..8926102 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.10:g.(?_8750402)_(8801930_?)dup duplication PMM2-congenital disorder of glycosylation [RCV001032216] Chr16:8844259..8895787 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.10:g.(?_8797873)_(8847835_?)del deletion PMM2-congenital disorder of glycosylation [RCV001033256] Chr16:8891730..8941692 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.160dup (p.Glu54fs) duplication PMM2-congenital disorder of glycosylation [RCV001194156]|not provided [RCV003317445] Chr16:8801890..8801891 [GRCh38]
Chr16:8895747..8895748 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.178+1G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001194157] Chr16:8801911 [GRCh38]
Chr16:8895768 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.523+52T>A single nucleotide variant not provided [RCV001571973] Chr16:8811765 [GRCh38]
Chr16:8905622 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.584A>G (p.His195Arg) single nucleotide variant Cerebellar ataxia [RCV001003993]|Congenital cerebellar hypoplasia [RCV001003992]|not provided [RCV002260674] Chr16:8813051 [GRCh38]
Chr16:8906908 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.178+21T>G single nucleotide variant not provided [RCV001586434] Chr16:8801931 [GRCh38]
Chr16:8895788 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.179-166A>G single nucleotide variant not provided [RCV001616880] Chr16:8804601 [GRCh38]
Chr16:8898458 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.639+62C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001542812]|not provided [RCV001712988] Chr16:8813168 [GRCh38]
Chr16:8907025 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.447+147A>G single nucleotide variant not provided [RCV001534314] Chr16:8811325 [GRCh38]
Chr16:8905182 [GRCh37]
Chr16:16p13.2		 benign
NM_015421.4(TMEM186):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000871399]|not specified [RCV001817006] Chr16:8797614 [GRCh38]
Chr16:8891471 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.639+44C>T single nucleotide variant not provided [RCV001546343] Chr16:8813150 [GRCh38]
Chr16:8907007 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.639+182G>T single nucleotide variant not provided [RCV001648583] Chr16:8813288 [GRCh38]
Chr16:8907145 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001059093] Chr16:8813028 [GRCh38]
Chr16:8906885 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_015421.4(TMEM186):c.3+27G>A single nucleotide variant not provided [RCV001585034]|not specified [RCV001821919] Chr16:8797585 [GRCh38]
Chr16:8891442 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.640-280dup duplication not provided [RCV001645468] Chr16:8847439..8847440 [GRCh38]
Chr16:8941296..8941297 [GRCh37]
Chr16:16p13.2		 benign
NM_015421.4(TMEM186):c.3+28G>T single nucleotide variant not provided [RCV001669062] Chr16:8797584 [GRCh38]
Chr16:8891441 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.680T>C (p.Met227Thr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001070061] Chr16:8847764 [GRCh38]
Chr16:8941621 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.256-133G>A single nucleotide variant not provided [RCV001583854] Chr16:8806183 [GRCh38]
Chr16:8900040 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.*1312T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001116564] Chr16:8849137 [GRCh38]
Chr16:8942994 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001198787] Chr16:8797910 [GRCh38]
Chr16:8891767 [GRCh37]
Chr16:16p13.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000303.3(PMM2):c.*896G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001117911] Chr16:8848721 [GRCh38]
Chr16:8942578 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*1424C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001118014] Chr16:8849249 [GRCh38]
Chr16:8943106 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001089469] Chr16:8811080 [GRCh38]
Chr16:8904937 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 16p13.2(chr16:8759826-8992656)x3 copy number gain not provided [RCV001006760] Chr16:8759826..8992656 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8795855-9015505)x3 copy number gain not provided [RCV001006762] Chr16:8795855..9015505 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.126A>G (p.Gly42=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001119266] Chr16:8801858 [GRCh38]
Chr16:8895715 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.154G>C (p.Val52Leu) single nucleotide variant Inborn genetic diseases [RCV003246701]|PMM2-congenital disorder of glycosylation [RCV001119267] Chr16:8801886 [GRCh38]
Chr16:8895743 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.256-13T>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001119269] Chr16:8806303 [GRCh38]
Chr16:8900160 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*242C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001119367] Chr16:8848067 [GRCh38]
Chr16:8941924 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*246C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001119368] Chr16:8848071 [GRCh38]
Chr16:8941928 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*205C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001119366] Chr16:8848030 [GRCh38]
Chr16:8941887 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*1142A>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001121458] Chr16:8848967 [GRCh38]
Chr16:8942824 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.457A>G (p.Ile153Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001245755] Chr16:8811647 [GRCh38]
Chr16:8905504 [GRCh37]
Chr16:16p13.2		 likely pathogenic|uncertain significance
NM_000303.3(PMM2):c.508C>T (p.Leu170Phe) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001215242] Chr16:8811698 [GRCh38]
Chr16:8905555 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*421G>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001121370] Chr16:8848246 [GRCh38]
Chr16:8942103 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*458C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001121371] Chr16:8848283 [GRCh38]
Chr16:8942140 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*1138T>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001121457] Chr16:8848963 [GRCh38]
Chr16:8942820 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.178+12G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001119268] Chr16:8801922 [GRCh38]
Chr16:8895779 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.*1345T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001116565] Chr16:8849170 [GRCh38]
Chr16:8943027 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.488_491del (p.Lys163fs) deletion PMM2-congenital disorder of glycosylation [RCV001246105] Chr16:8811676..8811679 [GRCh38]
Chr16:8905533..8905536 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_000303.3(PMM2):c.*7A>G single nucleotide variant Corticosteroids response [RCV001254657] Chr16:8847832 [GRCh38]
Chr16:8941689 [GRCh37]
Chr16:16p13.2		 drug response
GRCh37/hg19 16p13.2(chr16:8210270-9471096)x3 copy number gain not provided [RCV001259744] Chr16:8210270..9471096 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8899460-10058650)x3 copy number gain not provided [RCV001259741] Chr16:8899460..10058650 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs) indel PMM2-congenital disorder of glycosylation [RCV001264564]|not provided [RCV003227020] Chr16:8813033..8813038 [GRCh38]
Chr16:8906890..8906895 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.255_256del (p.Asn86fs) deletion Pituitary stalk interruption syndrome [RCV001257294] Chr16:8804842..8804843 [GRCh38]
Chr16:8898699..8898700 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.255G>A (p.Gln85=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001420823]|not provided [RCV001268007] Chr16:8804843 [GRCh38]
Chr16:8898700 [GRCh37]
Chr16:16p13.2		 likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 16p13.2(chr16:8281005-9010923)x3 copy number gain See cases [RCV001263029] Chr16:8281005..9010923 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.334C>G (p.Leu112Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001341128] Chr16:8806394 [GRCh38]
Chr16:8900251 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.130G>A (p.Val44Ile) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001342702] Chr16:8801862 [GRCh38]
Chr16:8895719 [GRCh37]
Chr16:16p13.2		 likely pathogenic|uncertain significance
NC_000016.9:g.(?_8829577)_(10274288_?)dup duplication Landau-Kleffner syndrome [RCV001299712] Chr16:8829577..10274288 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.256-5T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001392530] Chr16:8806311 [GRCh38]
Chr16:8900168 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.354T>C (p.Thr118=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001413250] Chr16:8811085 [GRCh38]
Chr16:8904942 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.318C>T (p.Tyr106=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001422315] Chr16:8806378 [GRCh38]
Chr16:8900235 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.244T>C (p.Leu82=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001433897] Chr16:8804832 [GRCh38]
Chr16:8898689 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.120A>G (p.Lys40=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001391924] Chr16:8801852 [GRCh38]
Chr16:8895709 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.639+70C>G single nucleotide variant not provided [RCV001786630] Chr16:8813176 [GRCh38]
Chr16:8907033 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.127G>C (p.Val43Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001362106] Chr16:8801859 [GRCh38]
Chr16:8895716 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8829597)_(8941682_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001344840] Chr16:8829597..8941682 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8839838)_(8941682_?)dup duplication PMM2-congenital disorder of glycosylation [RCV001318851] Chr16:8839838..8941682 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.487A>C (p.Lys163Gln) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001349606] Chr16:8811677 [GRCh38]
Chr16:8905534 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.401G>A (p.Arg134Lys) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001296253] Chr16:8811132 [GRCh38]
Chr16:8904989 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8891720)_(8900284_?)dup duplication PMM2-congenital disorder of glycosylation [RCV001350851] Chr16:8891720..8900284 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.129G>A (p.Val43=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001278416] Chr16:8801861 [GRCh38]
Chr16:8895718 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_000303.3(PMM2):c.549T>C (p.Phe183=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001412707] Chr16:8813016 [GRCh38]
Chr16:8906873 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.45G>C (p.Gly15=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001396467] Chr16:8797927 [GRCh38]
Chr16:8891784 [GRCh37]
Chr16:16p13.2		 likely benign
NC_000016.9:g.(?_8857906)_(8905590_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001314894] Chr16:8857906..8905590 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.168G>T (p.Leu56=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001399059] Chr16:8801900 [GRCh38]
Chr16:8895757 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.60G>A (p.Pro20=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001501648] Chr16:8797942 [GRCh38]
Chr16:8891799 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.385G>T (p.Val129Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001380615]|PMM2-related condition [RCV003953695] Chr16:8811116 [GRCh38]
Chr16:8904973 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.179-7A>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001479717] Chr16:8804760 [GRCh38]
Chr16:8898617 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.123C>T (p.Ile41=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001480671] Chr16:8801855 [GRCh38]
Chr16:8895712 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.345G>A (p.Lys115=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001392908] Chr16:8806405 [GRCh38]
Chr16:8900262 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.27C>T (p.Cys9=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001491998] Chr16:8797909 [GRCh38]
Chr16:8891766 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.435C>T (p.Tyr145=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001493629] Chr16:8811166 [GRCh38]
Chr16:8905023 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.264_265del (p.His90fs) deletion PMM2-congenital disorder of glycosylation [RCV001389071] Chr16:8806323..8806324 [GRCh38]
Chr16:8900180..8900181 [GRCh37]
Chr16:16p13.2		 pathogenic
NC_000016.9:g.(?_8895646)_(8895777_?)del deletion PMM2-congenital disorder of glycosylation [RCV001388022] Chr16:8895646..8895777 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.714C>G (p.Arg238=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001411921] Chr16:8847798 [GRCh38]
Chr16:8941655 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.564C>T (p.Asp188=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001428061] Chr16:8813031 [GRCh38]
Chr16:8906888 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.357C>T (p.Phe119=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001394279] Chr16:8811088 [GRCh38]
Chr16:8904945 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.523+10A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001392912] Chr16:8811723 [GRCh38]
Chr16:8905580 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.66+7G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001417079] Chr16:8797955 [GRCh38]
Chr16:8891812 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.696A>G (p.Thr232=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001407643] Chr16:8847780 [GRCh38]
Chr16:8941637 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.111G>A (p.Gln37=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001403489] Chr16:8801843 [GRCh38]
Chr16:8895700 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.285A>C (p.Leu95=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001407580] Chr16:8806345 [GRCh38]
Chr16:8900202 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.640-23A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001410012] Chr16:8847701 [GRCh38]
Chr16:8941558 [GRCh37]
Chr16:16p13.2		 likely benign|conflicting interpretations of pathogenicity
NM_000303.3(PMM2):c.243_244del (p.Leu82fs) microsatellite PMM2-congenital disorder of glycosylation [RCV001380824] Chr16:8804829..8804830 [GRCh38]
Chr16:8898686..8898687 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.377_381del (p.Met126fs) deletion PMM2-congenital disorder of glycosylation [RCV001385051] Chr16:8811107..8811111 [GRCh38]
Chr16:8904964..8904968 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.201_202del (p.Phe68fs) microsatellite PMM2-congenital disorder of glycosylation [RCV001389886] Chr16:8804786..8804787 [GRCh38]
Chr16:8898643..8898644 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.179-6T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001430783] Chr16:8804761 [GRCh38]
Chr16:8898618 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.507C>T (p.Gly169=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001405270] Chr16:8811697 [GRCh38]
Chr16:8905554 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.524-7C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001393420] Chr16:8812984 [GRCh38]
Chr16:8906841 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.129G>C (p.Val43=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001447535] Chr16:8801861 [GRCh38]
Chr16:8895718 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.66+209C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001542811]|not provided [RCV001538168] Chr16:8798157 [GRCh38]
Chr16:8892014 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.458_462del (p.Ile153fs) deletion PMM2-congenital disorder of glycosylation [RCV001385715] Chr16:8811647..8811651 [GRCh38]
Chr16:8905504..8905508 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.348-3del deletion PMM2-congenital disorder of glycosylation [RCV001401683] Chr16:8811074 [GRCh38]
Chr16:8904931 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.603T>G (p.Tyr201Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001377330] Chr16:8813070 [GRCh38]
Chr16:8906927 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.448-2A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001377416] Chr16:8811636 [GRCh38]
Chr16:8905493 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.207A>G (p.Pro69=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001411554] Chr16:8804795 [GRCh38]
Chr16:8898652 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.240A>G (p.Lys80=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001406563] Chr16:8804828 [GRCh38]
Chr16:8898685 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.129G>T (p.Val43=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001445816] Chr16:8801861 [GRCh38]
Chr16:8895718 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.651C>T (p.Asp217=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001461976] Chr16:8847735 [GRCh38]
Chr16:8941592 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.149A>T (p.Glu50Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001827541]|not provided [RCV001588722] Chr16:8801881 [GRCh38]
Chr16:8895738 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.640-333_640-331dup duplication not provided [RCV001674821] Chr16:8847377..8847378 [GRCh38]
Chr16:8941234..8941235 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.51C>A (p.Leu17=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001462442] Chr16:8797933 [GRCh38]
Chr16:8891790 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.135C>A (p.Gly45=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001499896] Chr16:8801867 [GRCh38]
Chr16:8895724 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.640-15802C>A single nucleotide variant not provided [RCV001584675] Chr16:8831922 [GRCh38]
Chr16:8925779 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.348-101C>T single nucleotide variant not provided [RCV001717093] Chr16:8810978 [GRCh38]
Chr16:8904835 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.640-331dup duplication not provided [RCV001715092] Chr16:8847377..8847378 [GRCh38]
Chr16:8941234..8941235 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.708C>T (p.Asp236=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001470245]|PMM2-related condition [RCV003938838] Chr16:8847792 [GRCh38]
Chr16:8941649 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.141G>A (p.Ser47=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001470727] Chr16:8801873 [GRCh38]
Chr16:8895730 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.347+172C>T single nucleotide variant not provided [RCV001680818] Chr16:8806579 [GRCh38]
Chr16:8900436 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.66+180G>C single nucleotide variant not provided [RCV001665916] Chr16:8798128 [GRCh38]
Chr16:8891985 [GRCh37]
Chr16:16p13.2		 benign
NM_000303.3(PMM2):c.66+10_66+12del microsatellite PMM2-congenital disorder of glycosylation [RCV001471675] Chr16:8797955..8797957 [GRCh38]
Chr16:8891812..8891814 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.666A>G (p.Thr222=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001405713] Chr16:8847750 [GRCh38]
Chr16:8941607 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.264A>G (p.Gln88=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001488087] Chr16:8806324 [GRCh38]
Chr16:8900181 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.283C>T (p.Leu95=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001497684] Chr16:8806343 [GRCh38]
Chr16:8900200 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.396T>C (p.Ile132=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001478700] Chr16:8811127 [GRCh38]
Chr16:8904984 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.73dup (p.Thr25fs) duplication PMM2-congenital disorder of glycosylation [RCV001385618] Chr16:8801804..8801805 [GRCh38]
Chr16:8895661..8895662 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.66+1G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001387080] Chr16:8797949 [GRCh38]
Chr16:8891806 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.72del (p.Thr25fs) deletion PMM2-congenital disorder of glycosylation [RCV001382265] Chr16:8801803 [GRCh38]
Chr16:8895660 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.179-2A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001378806] Chr16:8804765 [GRCh38]
Chr16:8898622 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.663C>T (p.Phe221=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001418459] Chr16:8847747 [GRCh38]
Chr16:8941604 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.457dup (p.Ile153fs) duplication PMM2-congenital disorder of glycosylation [RCV001385929] Chr16:8811646..8811647 [GRCh38]
Chr16:8905503..8905504 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.633T>C (p.Thr211=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001459680] Chr16:8813100 [GRCh38]
Chr16:8906957 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.234T>C (p.Asp78=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001485494] Chr16:8804822 [GRCh38]
Chr16:8898679 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.690C>T (p.Ser230=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001489337] Chr16:8847774 [GRCh38]
Chr16:8941631 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.192C>T (p.Tyr64=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001472076] Chr16:8804780 [GRCh38]
Chr16:8898637 [GRCh37]
Chr16:16p13.2		 likely benign
GRCh37/hg19 16p13.2(chr16:8851612-8943194)x3 copy number gain PMM2-congenital disorder of glycosylation [RCV001535646] Chr16:8851612..8943194 [GRCh37]
Chr16:16p13.2		 not provided
GRCh37/hg19 16p13.2(chr16:8807079-9045027)x3 copy number gain not provided [RCV001535694] Chr16:8807079..9045027 [GRCh37]
Chr16:16p13.2		 not provided
NM_000303.3(PMM2):c.61C>A (p.Arg21=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001502815] Chr16:8797943 [GRCh38]
Chr16:8891800 [GRCh37]
Chr16:16p13.2		 likely benign
NC_000016.9:g.(?_8891669)_(8895768_8898623)dup duplication not specified [RCV002238563] Chr16:8891669..8895768 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(8900265_8904935)_(8943195_?)del deletion PMM2-congenital disorder of glycosylation [RCV002238564] Chr16:8904935..8943195 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.347+5G>A single nucleotide variant not provided [RCV001799943] Chr16:8806412 [GRCh38]
Chr16:8900269 [GRCh37]
Chr16:16p13.2		 likely pathogenic
GRCh37/hg19 16p13.2(chr16:8852764-9388125)x3 copy number gain See cases [RCV001780079] Chr16:8852764..9388125 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.527G>T (p.Gly176Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001797878] Chr16:8812994 [GRCh38]
Chr16:8906851 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.47C>T (p.Thr16Ile) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001785343] Chr16:8797929 [GRCh38]
Chr16:8891786 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.524-141A>C single nucleotide variant not provided [RCV001786787] Chr16:8812850 [GRCh38]
Chr16:8906707 [GRCh37]
Chr16:16p13.2		 likely benign
NM_015421.4(TMEM186):c.3+20G>T single nucleotide variant not provided [RCV001786930]|not specified [RCV001822006] Chr16:8797592 [GRCh38]
Chr16:8891449 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_000303.3(PMM2):c.-1dup (p.Met1fs) duplication not provided [RCV001752359] Chr16:8797881..8797882 [GRCh38]
Chr16:8891738..8891739 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001808047] Chr16:8813040 [GRCh38]
Chr16:8906897 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.-19G>A single nucleotide variant not specified [RCV001819339] Chr16:8797864 [GRCh38]
Chr16:8891721 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.716G>A (p.Arg239Lys) single nucleotide variant not specified [RCV001819645] Chr16:8847800 [GRCh38]
Chr16:8941657 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_015421.4(TMEM186):c.3+130A>G single nucleotide variant not specified [RCV001820253] Chr16:8797482 [GRCh38]
Chr16:8891339 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_015421.4(TMEM186):c.3+67G>A single nucleotide variant not specified [RCV001817612] Chr16:8797545 [GRCh38]
Chr16:8891402 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.713G>C (p.Arg238Pro) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001808280] Chr16:8847797 [GRCh38]
Chr16:8941654 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_015421.4(TMEM186):c.3+185A>G single nucleotide variant not specified [RCV001819355] Chr16:8797427 [GRCh38]
Chr16:8891284 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.526G>A (p.Gly176Ser) single nucleotide variant not provided [RCV001822166] Chr16:8812993 [GRCh38]
Chr16:8906850 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.2(PMM2):c.-144G>A single nucleotide variant not specified [RCV001822265] Chr16:8797739 [GRCh38]
Chr16:8891596 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.4G>A (p.Ala2Thr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001915175] Chr16:8797886 [GRCh38]
Chr16:8891743 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.59del (p.Pro20fs) deletion PMM2-congenital disorder of glycosylation [RCV001947299] Chr16:8797938 [GRCh38]
Chr16:8891795 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.531G>C (p.Gln177His) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001909896] Chr16:8812998 [GRCh38]
Chr16:8906855 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.671C>G (p.Pro224Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001895228] Chr16:8847755 [GRCh38]
Chr16:8941612 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.586G>A (p.Val196Met) single nucleotide variant Inborn genetic diseases [RCV002563479]|PMM2-congenital disorder of glycosylation [RCV001987941] Chr16:8813053 [GRCh38]
Chr16:8906910 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8727589-9041590) copy number gain not specified [RCV002052511] Chr16:8727589..9041590 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8899897-9050878) copy number gain not specified [RCV002052516] Chr16:8899897..9050878 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.737C>A (p.Ser246Tyr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001893344] Chr16:8847821 [GRCh38]
Chr16:8941678 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.436G>A (p.Glu146Lys) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001964523]|not specified [RCV003151357] Chr16:8811167 [GRCh38]
Chr16:8905024 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(8906964_8941580)_(8943195_?)del deletion PMM2-congenital disorder of glycosylation [RCV001844483] Chr16:8941580..8943195 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.447+2T>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002024615] Chr16:8811180 [GRCh38]
Chr16:8905037 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.431T>G (p.Phe144Cys) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002023127] Chr16:8811162 [GRCh38]
Chr16:8905019 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.203T>G (p.Phe68Cys) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001849246] Chr16:8804791 [GRCh38]
Chr16:8898648 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.448-1G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002024426] Chr16:8811637 [GRCh38]
Chr16:8905494 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001945657] Chr16:8811648 [GRCh38]
Chr16:8905505 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.255+5G>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001895485] Chr16:8804848 [GRCh38]
Chr16:8898705 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.593A>G (p.Asn198Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001873114] Chr16:8813060 [GRCh38]
Chr16:8906917 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8850768-9216009) copy number gain not specified [RCV002052512] Chr16:8850768..9216009 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8862211-9287762) copy number gain not specified [RCV002052513] Chr16:8862211..9287762 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8899460-8914846) copy number loss not specified [RCV002052514] Chr16:8899460..8914846 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.252A>T (p.Arg84Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001913886] Chr16:8804840 [GRCh38]
Chr16:8898697 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.363A>T (p.Glu121Asp) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001892443] Chr16:8811094 [GRCh38]
Chr16:8904951 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8844259)_(8891825_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001983424] Chr16:8844259..8891825 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8829597)_(11650586_?)dup duplication Charcot-Marie-Tooth disease type 1C [RCV003120793]|MHC class II deficiency [RCV002000309] Chr16:8829597..11650586 [GRCh37]
Chr16:16p13.2-13.13		 uncertain significance
NM_000303.3(PMM2):c.562G>T (p.Asp188Tyr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002019189] Chr16:8813029 [GRCh38]
Chr16:8906886 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.640-13C>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001939080] Chr16:8847711 [GRCh38]
Chr16:8941568 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.652C>A (p.His218Asn) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002050839] Chr16:8847736 [GRCh38]
Chr16:8941593 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8866617)_(8900284_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001923148] Chr16:8866617..8900284 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.539T>C (p.Phe180Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001902824] Chr16:8813006 [GRCh38]
Chr16:8906863 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.451G>T (p.Glu151Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001904243] Chr16:8811641 [GRCh38]
Chr16:8905498 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.472G>A (p.Val158Ile) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001902889] Chr16:8811662 [GRCh38]
Chr16:8905519 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.523+1del deletion PMM2-congenital disorder of glycosylation [RCV001978781] Chr16:8811713 [GRCh38]
Chr16:8905570 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.581G>A (p.Arg194Gln) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001991348] Chr16:8813048 [GRCh38]
Chr16:8906905 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.16_22del (p.Pro6fs) deletion PMM2-congenital disorder of glycosylation [RCV001898312] Chr16:8797896..8797902 [GRCh38]
Chr16:8891753..8891759 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.640-16C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002031203] Chr16:8847708 [GRCh38]
Chr16:8941565 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.348-2del deletion PMM2-congenital disorder of glycosylation [RCV002035207] Chr16:8811077 [GRCh38]
Chr16:8904934 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.137G>A (p.Gly46Glu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001976126] Chr16:8801869 [GRCh38]
Chr16:8895726 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.448-2A>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002036504] Chr16:8811636 [GRCh38]
Chr16:8905493 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NC_000016.9:g.(?_8868727)_(8900284_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001992454] Chr16:8868727..8900284 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8891573)_(8895787_?)del deletion PMM2-congenital disorder of glycosylation [RCV001905165] Chr16:8891573..8895787 [GRCh37]
Chr16:16p13.2		 pathogenic
NC_000016.9:g.(?_8829597)_(9923529_?)del deletion Gamma-aminobutyric acid transaminase deficiency [RCV001958696] Chr16:8829597..9923529 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.69A>G (p.Lys23=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001939147] Chr16:8801801 [GRCh38]
Chr16:8895658 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.571T>C (p.Tyr191His) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001924396] Chr16:8813038 [GRCh38]
Chr16:8906895 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8891730)_(8926102_?)del deletion PMM2-congenital disorder of glycosylation [RCV001953734] Chr16:8891730..8926102 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.645C>T (p.Gly215=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV001932307] Chr16:8847729 [GRCh38]
Chr16:8941586 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.544G>C (p.Val182Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002029090] Chr16:8813011 [GRCh38]
Chr16:8906868 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.21G>C (p.Ala7=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002190767] Chr16:8797903 [GRCh38]
Chr16:8891760 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.524-15G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002189040] Chr16:8812976 [GRCh38]
Chr16:8906833 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.648T>C (p.Asn216=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002186632] Chr16:8847732 [GRCh38]
Chr16:8941589 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.730C>T (p.Leu244=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002111392] Chr16:8847814 [GRCh38]
Chr16:8941671 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.348-8A>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002185312] Chr16:8811071 [GRCh38]
Chr16:8904928 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.178+7G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002167434] Chr16:8801917 [GRCh38]
Chr16:8895774 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.678C>T (p.Thr226=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002189691] Chr16:8847762 [GRCh38]
Chr16:8941619 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.640-12G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002147386] Chr16:8847712 [GRCh38]
Chr16:8941569 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.585T>C (p.His195=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002075231] Chr16:8813052 [GRCh38]
Chr16:8906909 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.483A>T (p.Leu161=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002086280] Chr16:8811673 [GRCh38]
Chr16:8905530 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.159G>A (p.Gln53=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002149622] Chr16:8801891 [GRCh38]
Chr16:8895748 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.513G>A (p.Thr171=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002111333]|PMM2-related condition [RCV003933384] Chr16:8811703 [GRCh38]
Chr16:8905560 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.711G>A (p.Thr237=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002106853] Chr16:8847795 [GRCh38]
Chr16:8941652 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.672C>T (p.Pro224=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002079833] Chr16:8847756 [GRCh38]
Chr16:8941613 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.639+7A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002135021] Chr16:8813113 [GRCh38]
Chr16:8906970 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.447+7C>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002171062] Chr16:8811185 [GRCh38]
Chr16:8905042 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.524-9A>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002085866] Chr16:8812982 [GRCh38]
Chr16:8906839 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.273G>A (p.Leu91=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002194907] Chr16:8806333 [GRCh38]
Chr16:8900190 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.448-13_448-12del deletion PMM2-congenital disorder of glycosylation [RCV002093660] Chr16:8811622..8811623 [GRCh38]
Chr16:8905479..8905480 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.348-5C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002078646] Chr16:8811074 [GRCh38]
Chr16:8904931 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.524-6del deletion PMM2-congenital disorder of glycosylation [RCV002151488] Chr16:8812983 [GRCh38]
Chr16:8906840 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.720C>A (p.Ile240=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002177098] Chr16:8847804 [GRCh38]
Chr16:8941661 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.524-16C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002103780] Chr16:8812975 [GRCh38]
Chr16:8906832 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.390C>G (p.Ser130=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002154831] Chr16:8811121 [GRCh38]
Chr16:8904978 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.424A>G (p.Ile142Val) single nucleotide variant not specified [RCV002222993] Chr16:8811155 [GRCh38]
Chr16:8905012 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.9G>C (p.Ala3=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002159598] Chr16:8797891 [GRCh38]
Chr16:8891748 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.669C>T (p.Asp223=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002177176] Chr16:8847753 [GRCh38]
Chr16:8941610 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.523+8A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002184467] Chr16:8811721 [GRCh38]
Chr16:8905578 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.339G>T (p.Pro113=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002144430] Chr16:8806399 [GRCh38]
Chr16:8900256 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.213T>C (p.Asn71=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002154891] Chr16:8804801 [GRCh38]
Chr16:8898658 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.312G>A (p.Leu104=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002164363] Chr16:8806372 [GRCh38]
Chr16:8900229 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.618C>T (p.Phe206=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002141856] Chr16:8813085 [GRCh38]
Chr16:8906942 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.448-23_448-18del deletion PMM2-congenital disorder of glycosylation [RCV002181103] Chr16:8811613..8811618 [GRCh38]
Chr16:8905470..8905475 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.640-7T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002201031] Chr16:8847717 [GRCh38]
Chr16:8941574 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.444T>C (p.Asp148=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002162441] Chr16:8811175 [GRCh38]
Chr16:8905032 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.75C>G (p.Thr25=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002103494] Chr16:8801807 [GRCh38]
Chr16:8895664 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.66+10G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002203005] Chr16:8797958 [GRCh38]
Chr16:8891815 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.217T>C (p.Leu73=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002154176] Chr16:8804805 [GRCh38]
Chr16:8898662 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.156G>T (p.Val52=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002081390] Chr16:8801888 [GRCh38]
Chr16:8895745 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.243C>T (p.Leu81=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002219038] Chr16:8804831 [GRCh38]
Chr16:8898688 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.387G>A (p.Val129=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002156857] Chr16:8811118 [GRCh38]
Chr16:8904975 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.732G>C (p.Leu244=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002198805] Chr16:8847816 [GRCh38]
Chr16:8941673 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.631A>G (p.Thr211Ala) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003110376] Chr16:8813098 [GRCh38]
Chr16:8906955 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8851594)_(9017290_?)del deletion Gamma-aminobutyric acid transaminase deficiency [RCV003109723] Chr16:8851594..9017290 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8841945)_(8941682_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV003109728] Chr16:8841945..8941682 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8905475)_(8905590_?)del deletion PMM2-congenital disorder of glycosylation [RCV003110972] Chr16:8905475..8905590 [GRCh37]
Chr16:16p13.2		 pathogenic
NC_000016.9:g.(?_8906828)_(8906983_?)del deletion PMM2-congenital disorder of glycosylation [RCV003110973] Chr16:8906828..8906983 [GRCh37]
Chr16:16p13.2		 pathogenic
NC_000016.9:g.(?_8900163)_(8941692_?)del deletion PMM2-congenital disorder of glycosylation [RCV003110974] Chr16:8900163..8941692 [GRCh37]
Chr16:16p13.2		 pathogenic
NC_000016.9:g.(?_8895646)_(8895777_?)dup duplication PMM2-congenital disorder of glycosylation [RCV003110975] Chr16:8895646..8895777 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NC_000016.9:g.(?_8898599)_(8898710_?)dup duplication PMM2-congenital disorder of glycosylation [RCV003110976] Chr16:8898599..8898710 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NC_000016.9:g.(?_8839838)_(8905055_?)dup duplication PMM2-congenital disorder of glycosylation [RCV003110977] Chr16:8839838..8905055 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8891573)_(8941682_?)dup duplication PMM2-congenital disorder of glycosylation [RCV003110978] Chr16:8891573..8941682 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8926102)_(8941682_?)dup duplication PMM2-congenital disorder of glycosylation [RCV003110979] Chr16:8926102..8941682 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8839838)_(8900284_?)dup duplication PMM2-congenital disorder of glycosylation [RCV003110980] Chr16:8839838..8900284 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.521T>C (p.Ile174Thr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003115609] Chr16:8811711 [GRCh38]
Chr16:8905568 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8873316)_(8998442_?)dup duplication not provided [RCV003113262] Chr16:8873316..8998442 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.26G>T (p.Cys9Phe) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003123256] Chr16:8797908 [GRCh38]
Chr16:8891765 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.667G>A (p.Asp223Asn) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003123379] Chr16:8847751 [GRCh38]
Chr16:8941608 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.8C>T (p.Ala3Val) single nucleotide variant not provided [RCV003129067] Chr16:8797890 [GRCh38]
Chr16:8891747 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.366C>G (p.Phe122Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003148506] Chr16:8811097 [GRCh38]
Chr16:8904954 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.329T>G (p.Ile110Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002274269] Chr16:8806389 [GRCh38]
Chr16:8900246 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8891669)_(8898701_8900172)dup duplication not specified [RCV002281754] Chr16:8891669..8898701 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.696del (p.Ala233fs) deletion PMM2-congenital disorder of glycosylation [RCV002275231] Chr16:8847780 [GRCh38]
Chr16:8941637 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.728T>C (p.Leu243Pro) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002261482] Chr16:8847812 [GRCh38]
Chr16:8941669 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000303.3(PMM2):c.40G>A (p.Asp14Asn) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003096168]|not provided [RCV002273654] Chr16:8797922 [GRCh38]
Chr16:8891779 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.445A>G (p.Lys149Glu) single nucleotide variant not provided [RCV002278989] Chr16:8811176 [GRCh38]
Chr16:8905033 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.98A>C (p.Gln33Pro) single nucleotide variant not specified [RCV003236407] Chr16:8801830 [GRCh38]
Chr16:8895687 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.3-13.2(chr16:5381584-10067952) copy number gain Chromosome 16p13.3 duplication syndrome [RCV002280705] Chr16:5381584..10067952 [GRCh37]
Chr16:16p13.3-13.2		 likely pathogenic
NM_000303.3(PMM2):c.556G>A (p.Gly186Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002261483] Chr16:8813023 [GRCh38]
Chr16:8906880 [GRCh37]
Chr16:16p13.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.2(chr16:8728709-8959355)x3 copy number gain not provided [RCV002474805] Chr16:8728709..8959355 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.360T>G (p.Ile120Met) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002471328] Chr16:8811091 [GRCh38]
Chr16:8904948 [GRCh37]
Chr16:16p13.2		 likely pathogenic
GRCh37/hg19 16p13.2(chr16:8813120-8904341)x1 copy number loss not provided [RCV002472397] Chr16:8813120..8904341 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.309T>A (p.Cys103Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002307320] Chr16:8806369 [GRCh38]
Chr16:8900226 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.228C>A (p.Tyr76Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002309924] Chr16:8804816 [GRCh38]
Chr16:8898673 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.250A>T (p.Arg84Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002310248] Chr16:8804838 [GRCh38]
Chr16:8898695 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.340A>T (p.Lys114Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002307994] Chr16:8806400 [GRCh38]
Chr16:8900257 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.325A>T (p.Lys109Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002307995] Chr16:8806385 [GRCh38]
Chr16:8900242 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.76A>T (p.Lys26Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002310079] Chr16:8801808 [GRCh38]
Chr16:8895665 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.295_296del (p.Leu99fs) deletion PMM2-congenital disorder of glycosylation [RCV002307173] Chr16:8806354..8806355 [GRCh38]
Chr16:8900211..8900212 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.296T>A (p.Leu99Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002310094] Chr16:8806356 [GRCh38]
Chr16:8900213 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.701C>T (p.Pro234Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002730966] Chr16:8847785 [GRCh38]
Chr16:8941642 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.508C>G (p.Leu170Val) single nucleotide variant Inborn genetic diseases [RCV002753780] Chr16:8811698 [GRCh38]
Chr16:8905555 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.94C>T (p.Leu32=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002994565] Chr16:8801826 [GRCh38]
Chr16:8895683 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.347+3G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002971662]|PMM2-related condition [RCV003943670] Chr16:8806410 [GRCh38]
Chr16:8900267 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_000303.3(PMM2):c.537C>T (p.Ser179=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002618203] Chr16:8813004 [GRCh38]
Chr16:8906861 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.165A>G (p.Gln55=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002991433] Chr16:8801897 [GRCh38]
Chr16:8895754 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.711G>C (p.Thr237=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002862011] Chr16:8847795 [GRCh38]
Chr16:8941652 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.486G>T (p.Arg162=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002617298] Chr16:8811676 [GRCh38]
Chr16:8905533 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.447A>T (p.Lys149Asn) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003011890] Chr16:8811178 [GRCh38]
Chr16:8905035 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.558A>G (p.Gly186=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003013955] Chr16:8813025 [GRCh38]
Chr16:8906882 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.256-6A>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002861570] Chr16:8806310 [GRCh38]
Chr16:8900167 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.706G>T (p.Asp236Tyr) single nucleotide variant Inborn genetic diseases [RCV002907236] Chr16:8847790 [GRCh38]
Chr16:8941647 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.223G>C (p.Ala75Pro) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002755681] Chr16:8804811 [GRCh38]
Chr16:8898668 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.67-1G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002997008] Chr16:8801798 [GRCh38]
Chr16:8895655 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.467_468delinsT (p.Lys156fs) indel PMM2-congenital disorder of glycosylation [RCV002971499] Chr16:8811657..8811658 [GRCh38]
Chr16:8905514..8905515 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.*91C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002488700] Chr16:8847916 [GRCh38]
Chr16:8941773 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.235G>C (p.Gly79Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003103114]|not provided [RCV002461829] Chr16:8804823 [GRCh38]
Chr16:8898680 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.248G>A (p.Cys83Tyr) single nucleotide variant Inborn genetic diseases [RCV002937467]|PMM2-congenital disorder of glycosylation [RCV002914364] Chr16:8804836 [GRCh38]
Chr16:8898693 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.523+5T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002785835] Chr16:8811718 [GRCh38]
Chr16:8905575 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.179-4G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003100167] Chr16:8804763 [GRCh38]
Chr16:8898620 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.225A>G (p.Ala75=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003081757] Chr16:8804813 [GRCh38]
Chr16:8898670 [GRCh37]
Chr16:16p13.2		 likely benign
NC_000016.9:g.(?_8891669)_(8905571_8906847)dup duplication not specified [RCV002510344] Chr16:8891669..8905571 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.434A>G (p.Tyr145Cys) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003079012] Chr16:8811165 [GRCh38]
Chr16:8905022 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.300C>A (p.Ile100=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002622828] Chr16:8806360 [GRCh38]
Chr16:8900217 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.627C>G (p.Asp209Glu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002593348] Chr16:8813094 [GRCh38]
Chr16:8906951 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.197_198del (p.Tyr66fs) deletion PMM2-congenital disorder of glycosylation [RCV003021701] Chr16:8804784..8804785 [GRCh38]
Chr16:8898641..8898642 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.524-4G>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002705258] Chr16:8812987 [GRCh38]
Chr16:8906844 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.405C>T (p.Ser135=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002866382] Chr16:8811136 [GRCh38]
Chr16:8904993 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.628A>G (p.Lys210Glu) single nucleotide variant Inborn genetic diseases [RCV002910558] Chr16:8813095 [GRCh38]
Chr16:8906952 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.117C>G (p.Ile39Met) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002979333] Chr16:8801849 [GRCh38]
Chr16:8895706 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.348-2A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002867487] Chr16:8811077 [GRCh38]
Chr16:8904934 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.178+3A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002867495] Chr16:8801913 [GRCh38]
Chr16:8895770 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.67-2A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002909914] Chr16:8801797 [GRCh38]
Chr16:8895654 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.256-18_256-15del deletion PMM2-congenital disorder of glycosylation [RCV002923483] Chr16:8806297..8806300 [GRCh38]
Chr16:8900154..8900157 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.512C>T (p.Thr171Met) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003053279] Chr16:8811702 [GRCh38]
Chr16:8905559 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.285A>T (p.Leu95=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002658742] Chr16:8806345 [GRCh38]
Chr16:8900202 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.188A>T (p.Lys63Ile) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002820613] Chr16:8804776 [GRCh38]
Chr16:8898633 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.205C>A (p.Pro69Thr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003054815] Chr16:8804793 [GRCh38]
Chr16:8898650 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.562del (p.Asp188fs) deletion PMM2-congenital disorder of glycosylation [RCV002913532] Chr16:8813027 [GRCh38]
Chr16:8906884 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.255+2T>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002867878] Chr16:8804845 [GRCh38]
Chr16:8898702 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.387G>C (p.Val129=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003035895] Chr16:8811118 [GRCh38]
Chr16:8904975 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.405C>A (p.Ser135Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003084697] Chr16:8811136 [GRCh38]
Chr16:8904993 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.485G>C (p.Arg162Pro) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002893897] Chr16:8811675 [GRCh38]
Chr16:8905532 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.270T>C (p.His90=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002876219] Chr16:8806330 [GRCh38]
Chr16:8900187 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.488A>C (p.Lys163Thr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003085378] Chr16:8811678 [GRCh38]
Chr16:8905535 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.723T>G (p.Cys241Trp) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002851121] Chr16:8847807 [GRCh38]
Chr16:8941664 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003058490] Chr16:8811084 [GRCh38]
Chr16:8904941 [GRCh37]
Chr16:16p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000303.3(PMM2):c.715A>T (p.Arg239Trp) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003058492] Chr16:8847799 [GRCh38]
Chr16:8941656 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.534C>G (p.Ile178Met) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003043399] Chr16:8813001 [GRCh38]
Chr16:8906858 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.96A>G (p.Leu32=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003008193] Chr16:8801828 [GRCh38]
Chr16:8895685 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.477A>G (p.Ala159=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002828763] Chr16:8811667 [GRCh38]
Chr16:8905524 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.194A>G (p.Asp65Gly) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002852141] Chr16:8804782 [GRCh38]
Chr16:8898639 [GRCh37]
Chr16:16p13.2		 likely pathogenic|uncertain significance
NM_000303.3(PMM2):c.687C>T (p.Tyr229=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002851712] Chr16:8847771 [GRCh38]
Chr16:8941628 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.303C>G (p.Asn101Lys) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003041250] Chr16:8806363 [GRCh38]
Chr16:8900220 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.534C>T (p.Ile178=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002740988]|PMM2-related condition [RCV003898510] Chr16:8813001 [GRCh38]
Chr16:8906858 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.347+8T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002572668] Chr16:8806415 [GRCh38]
Chr16:8900272 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.470T>G (p.Phe157Cys) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002801122] Chr16:8811660 [GRCh38]
Chr16:8905517 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.705G>A (p.Glu235=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002872642] Chr16:8847789 [GRCh38]
Chr16:8941646 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.67-6A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002572747] Chr16:8801793 [GRCh38]
Chr16:8895650 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.671C>T (p.Pro224Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002850970] Chr16:8847755 [GRCh38]
Chr16:8941612 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.17_28del (p.Pro6_Cys9del) deletion PMM2-congenital disorder of glycosylation [RCV002890998] Chr16:8797896..8797907 [GRCh38]
Chr16:8891753..8891764 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.179-12T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002914626] Chr16:8804755 [GRCh38]
Chr16:8898612 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.288C>T (p.Ile96=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002663345] Chr16:8806348 [GRCh38]
Chr16:8900205 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.720C>T (p.Ile240=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003056251] Chr16:8847804 [GRCh38]
Chr16:8941661 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.682G>C (p.Gly228Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003058491] Chr16:8847766 [GRCh38]
Chr16:8941623 [GRCh37]
Chr16:16p13.2		 likely pathogenic|uncertain significance
NM_000303.3(PMM2):c.523+18T>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002642816] Chr16:8811731 [GRCh38]
Chr16:8905588 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.264A>C (p.Gln88His) single nucleotide variant Inborn genetic diseases [RCV002743230]|PMM2-congenital disorder of glycosylation [RCV003108176] Chr16:8806324 [GRCh38]
Chr16:8900181 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.375G>A (p.Gly125=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003023902] Chr16:8811106 [GRCh38]
Chr16:8904963 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.640-4C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002766410] Chr16:8847720 [GRCh38]
Chr16:8941577 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.178+11G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003040804] Chr16:8801921 [GRCh38]
Chr16:8895778 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.169G>C (p.Gly57Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003041249] Chr16:8801901 [GRCh38]
Chr16:8895758 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.677C>T (p.Thr226Ile) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002594309] Chr16:8847761 [GRCh38]
Chr16:8941618 [GRCh37]
Chr16:16p13.2		 likely pathogenic|uncertain significance
NM_000303.3(PMM2):c.483A>G (p.Leu161=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002830110] Chr16:8811673 [GRCh38]
Chr16:8905530 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.735C>G (p.Phe245Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002630163] Chr16:8847819 [GRCh38]
Chr16:8941676 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.708C>G (p.Asp236Glu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003065033] Chr16:8847792 [GRCh38]
Chr16:8941649 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.430T>G (p.Phe144Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002632537]|not specified [RCV003317650] Chr16:8811161 [GRCh38]
Chr16:8905018 [GRCh37]
Chr16:16p13.2		 likely pathogenic|uncertain significance
NM_000303.3(PMM2):c.15C>G (p.Gly5=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002857808] Chr16:8797897 [GRCh38]
Chr16:8891754 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.347+20A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003027597] Chr16:8806427 [GRCh38]
Chr16:8900284 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.584_585del (p.His195fs) deletion PMM2-congenital disorder of glycosylation [RCV003026962] Chr16:8813051..8813052 [GRCh38]
Chr16:8906908..8906909 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.76A>G (p.Lys26Glu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002716450] Chr16:8801808 [GRCh38]
Chr16:8895665 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.178+20T>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002627811] Chr16:8801930 [GRCh38]
Chr16:8895787 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.255+17C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002628190] Chr16:8804860 [GRCh38]
Chr16:8898717 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala) single nucleotide variant Inborn genetic diseases [RCV003064318]|PMM2-congenital disorder of glycosylation [RCV003064317] Chr16:8811122 [GRCh38]
Chr16:8904979 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.179-13G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002577790] Chr16:8804754 [GRCh38]
Chr16:8898611 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.564C>A (p.Asp188Glu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003030434] Chr16:8813031 [GRCh38]
Chr16:8906888 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003087861]|not provided [RCV003883878] Chr16:8801872 [GRCh38]
Chr16:8895729 [GRCh37]
Chr16:16p13.2		 likely pathogenic|uncertain significance
NM_000303.3(PMM2):c.598G>A (p.Gly200Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002937385] Chr16:8813065 [GRCh38]
Chr16:8906922 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.524-10C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003047440] Chr16:8812981 [GRCh38]
Chr16:8906838 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.602A>G (p.Tyr201Cys) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002938340] Chr16:8813069 [GRCh38]
Chr16:8906926 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.347+17C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002770057] Chr16:8806424 [GRCh38]
Chr16:8900281 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.697G>A (p.Ala233Thr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003064320] Chr16:8847781 [GRCh38]
Chr16:8941638 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.196dup (p.Tyr66fs) duplication PMM2-congenital disorder of glycosylation [RCV002716699] Chr16:8804782..8804783 [GRCh38]
Chr16:8898639..8898640 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.67-8A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003047516] Chr16:8801791 [GRCh38]
Chr16:8895648 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.375G>T (p.Gly125=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002876967] Chr16:8811106 [GRCh38]
Chr16:8904963 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.34G>C (p.Asp12His) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003031176] Chr16:8797916 [GRCh38]
Chr16:8891773 [GRCh37]
Chr16:16p13.2		 pathogenic|uncertain significance
NM_000303.3(PMM2):c.706G>A (p.Asp236Asn) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003051499] Chr16:8847790 [GRCh38]
Chr16:8941647 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.66+12C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002606115] Chr16:8797960 [GRCh38]
Chr16:8891817 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.396T>A (p.Ile132=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003069280] Chr16:8811127 [GRCh38]
Chr16:8904984 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_000303.3(PMM2):c.639+8G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002604555] Chr16:8813114 [GRCh38]
Chr16:8906971 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.297A>G (p.Leu99=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002680763] Chr16:8806357 [GRCh38]
Chr16:8900214 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.460A>T (p.Arg154Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003049628] Chr16:8811650 [GRCh38]
Chr16:8905507 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.640-17A>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002633328] Chr16:8847707 [GRCh38]
Chr16:8941564 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.191A>C (p.Tyr64Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002633968] Chr16:8804779 [GRCh38]
Chr16:8898636 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.255+8C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003051845] Chr16:8804851 [GRCh38]
Chr16:8898708 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.524-17C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003071928] Chr16:8812974 [GRCh38]
Chr16:8906831 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.524-13C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002589749] Chr16:8812978 [GRCh38]
Chr16:8906835 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.66+9C>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002610246] Chr16:8797957 [GRCh38]
Chr16:8891814 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.94C>G (p.Leu32Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV002680699] Chr16:8801826 [GRCh38]
Chr16:8895683 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.522A>G (p.Ile174Met) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003070881] Chr16:8811712 [GRCh38]
Chr16:8905569 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.717G>T (p.Arg239Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003070886] Chr16:8847801 [GRCh38]
Chr16:8941658 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.567G>A (p.Lys189=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003072124] Chr16:8813034 [GRCh38]
Chr16:8906891 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.59C>T (p.Pro20Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003073502]|PMM2-related condition [RCV003943776] Chr16:8797941 [GRCh38]
Chr16:8891798 [GRCh37]
Chr16:16p13.2		 likely pathogenic|uncertain significance
NM_000303.3(PMM2):c.328A>G (p.Ile110Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003066876] Chr16:8806388 [GRCh38]
Chr16:8900245 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.485G>A (p.Arg162Gln) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003071065] Chr16:8811675 [GRCh38]
Chr16:8905532 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.523G>C (p.Gly175Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003459789]|not specified [RCV003155612] Chr16:8811713 [GRCh38]
Chr16:8905570 [GRCh37]
Chr16:16p13.2		 likely pathogenic|uncertain significance
NM_000303.3(PMM2):c.359T>A (p.Ile120Asn) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003132056] Chr16:8811090 [GRCh38]
Chr16:8904947 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.31T>G (p.Phe11Val) single nucleotide variant Inborn genetic diseases [RCV003215024] Chr16:8797913 [GRCh38]
Chr16:8891770 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8160554)_(9074348_?)del deletion Hao-Fountain syndrome [RCV003224906] Chr16:8160554..9074348 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.261T>G (p.Ile87Met) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003135051] Chr16:8806321 [GRCh38]
Chr16:8900178 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.348-2_348-1insAA insertion PMM2-congenital disorder of glycosylation [RCV003142691] Chr16:8811076..8811077 [GRCh38]
Chr16:8904933..8904934 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.28C>G (p.Leu10Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003337979] Chr16:8797910 [GRCh38]
Chr16:8891767 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003463305] Chr16:8847753 [GRCh38]
Chr16:8941610 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.28del (p.Leu10fs) deletion PMM2-congenital disorder of glycosylation [RCV003463306] Chr16:8797909 [GRCh38]
Chr16:8891766 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.693G>T (p.Val231=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003873122] Chr16:8847777 [GRCh38]
Chr16:8941634 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.523G>T (p.Gly175Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003463300] Chr16:8811713 [GRCh38]
Chr16:8905570 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.717G>C (p.Arg239Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003874147] Chr16:8847801 [GRCh38]
Chr16:8941658 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003471702] Chr16:8804841 [GRCh38]
Chr16:8898698 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.64C>T (p.Gln22Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003471701] Chr16:8797946 [GRCh38]
Chr16:8891803 [GRCh37]
Chr16:16p13.2		 pathogenic
GRCh37/hg19 16p13.2(chr16:8396405-9479483)x3 copy number gain not provided [RCV003485089] Chr16:8396405..9479483 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8922659-9123395)x3 copy number gain not provided [RCV003485090] Chr16:8922659..9123395 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.79G>T (p.Glu27Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003463301] Chr16:8801811 [GRCh38]
Chr16:8895668 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.179-1G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003463308] Chr16:8804766 [GRCh38]
Chr16:8898623 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_000303.3(PMM2):c.179-25A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003463310] Chr16:8804742 [GRCh38]
Chr16:8898599 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.328_329insGGGAA (p.Ile110fs) insertion PMM2-congenital disorder of glycosylation [RCV003471706] Chr16:8806386..8806387 [GRCh38]
Chr16:8900243..8900244 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.173del (p.Asn58fs) deletion PMM2-congenital disorder of glycosylation [RCV003463303] Chr16:8801903 [GRCh38]
Chr16:8895760 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.192C>G (p.Tyr64Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003471703] Chr16:8804780 [GRCh38]
Chr16:8898637 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.687C>A (p.Tyr229Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003471704] Chr16:8847771 [GRCh38]
Chr16:8941628 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.524-15G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003880128] Chr16:8812976 [GRCh38]
Chr16:8906833 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.603T>C (p.Tyr201=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003619845]|not provided [RCV003411262] Chr16:8813070 [GRCh38]
Chr16:8906927 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.639+15G>C single nucleotide variant not specified [RCV003388355] Chr16:8813121 [GRCh38]
Chr16:8906978 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.256-1G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003463302] Chr16:8806315 [GRCh38]
Chr16:8900172 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.365del (p.Phe122fs) deletion PMM2-congenital disorder of glycosylation [RCV003463309] Chr16:8811095 [GRCh38]
Chr16:8904952 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.61dup (p.Arg21fs) duplication PMM2-congenital disorder of glycosylation [RCV003471705] Chr16:8797942..8797943 [GRCh38]
Chr16:8891799..8891800 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.447+8T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510267] Chr16:8811186 [GRCh38]
Chr16:8905043 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.599G>T (p.Gly200Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003876645] Chr16:8813066 [GRCh38]
Chr16:8906923 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.208G>T (p.Glu70Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510444] Chr16:8804796 [GRCh38]
Chr16:8898653 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.395T>A (p.Ile132Asn) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003509010] Chr16:8811126 [GRCh38]
Chr16:8904983 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.639+2T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510660] Chr16:8813108 [GRCh38]
Chr16:8906965 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.336C>G (p.Leu112=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003511405] Chr16:8806396 [GRCh38]
Chr16:8900253 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.66+13C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510245] Chr16:8797961 [GRCh38]
Chr16:8891818 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.255+1G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510295] Chr16:8804844 [GRCh38]
Chr16:8898701 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.348-17C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003878934] Chr16:8811062 [GRCh38]
Chr16:8904919 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.279G>T (p.Glu93Asp) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510426] Chr16:8806339 [GRCh38]
Chr16:8900196 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.463C>G (p.Gln155Glu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003509863] Chr16:8811653 [GRCh38]
Chr16:8905510 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.660C>G (p.Ile220Met) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003511333] Chr16:8847744 [GRCh38]
Chr16:8941601 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.523+15G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003509124] Chr16:8811728 [GRCh38]
Chr16:8905585 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.703G>C (p.Glu235Gln) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510022] Chr16:8847787 [GRCh38]
Chr16:8941644 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_000303.3(PMM2):c.124G>T (p.Gly42Ter) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510224] Chr16:8801856 [GRCh38]
Chr16:8895713 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.51C>G (p.Leu17=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510164] Chr16:8797933 [GRCh38]
Chr16:8891790 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.256-17G>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510398] Chr16:8806299 [GRCh38]
Chr16:8900156 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.447+7C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510437] Chr16:8811185 [GRCh38]
Chr16:8905042 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.513G>C (p.Thr171=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003509399] Chr16:8811703 [GRCh38]
Chr16:8905560 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.78A>G (p.Lys26=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510130] Chr16:8801810 [GRCh38]
Chr16:8895667 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.442G>T (p.Asp148Tyr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003509173] Chr16:8811173 [GRCh38]
Chr16:8905030 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.294T>C (p.Asp98=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510944] Chr16:8806354 [GRCh38]
Chr16:8900211 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.193G>A (p.Asp65Asn) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003511424] Chr16:8804781 [GRCh38]
Chr16:8898638 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.130G>C (p.Val44Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510551] Chr16:8801862 [GRCh38]
Chr16:8895719 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.256-15A>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003510399] Chr16:8806301 [GRCh38]
Chr16:8900158 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.568A>C (p.Arg190=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003509920] Chr16:8813035 [GRCh38]
Chr16:8906892 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.18A>G (p.Pro6=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003509974] Chr16:8797900 [GRCh38]
Chr16:8891757 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.646A>G (p.Asn216Asp) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003849521] Chr16:8847730 [GRCh38]
Chr16:8941587 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.96A>T (p.Leu32=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620936] Chr16:8801828 [GRCh38]
Chr16:8895685 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.206C>T (p.Pro69Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620634] Chr16:8804794 [GRCh38]
Chr16:8898651 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.231del (p.Asp78fs) deletion PMM2-congenital disorder of glycosylation [RCV003620961] Chr16:8804817 [GRCh38]
Chr16:8898674 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.179-8G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620649] Chr16:8804759 [GRCh38]
Chr16:8898616 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.448-18T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620651] Chr16:8811620 [GRCh38]
Chr16:8905477 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.15C>T (p.Gly5=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620655] Chr16:8797897 [GRCh38]
Chr16:8891754 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.528C>T (p.Gly176=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620682] Chr16:8812995 [GRCh38]
Chr16:8906852 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.295T>C (p.Leu99=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620846] Chr16:8806355 [GRCh38]
Chr16:8900212 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.195T>C (p.Asp65=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003619512] Chr16:8804783 [GRCh38]
Chr16:8898640 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.448-11G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003619553] Chr16:8811627 [GRCh38]
Chr16:8905484 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.574T>C (p.Cys192Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003619370] Chr16:8813041 [GRCh38]
Chr16:8906898 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.156G>A (p.Val52=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620905] Chr16:8801888 [GRCh38]
Chr16:8895745 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.66+17G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620749] Chr16:8797965 [GRCh38]
Chr16:8891822 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.523+13T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620503] Chr16:8811726 [GRCh38]
Chr16:8905583 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.447+11C>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620124] Chr16:8811189 [GRCh38]
Chr16:8905046 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.639+19G>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620137] Chr16:8813125 [GRCh38]
Chr16:8906982 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.356T>C (p.Phe119Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620620] Chr16:8811087 [GRCh38]
Chr16:8904944 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.523+14T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003619518] Chr16:8811727 [GRCh38]
Chr16:8905584 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.523+11T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003619549] Chr16:8811724 [GRCh38]
Chr16:8905581 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.348-4C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003619435] Chr16:8811075 [GRCh38]
Chr16:8904932 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.348-14C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620211] Chr16:8811065 [GRCh38]
Chr16:8904922 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.574T>A (p.Cys192Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620220] Chr16:8813041 [GRCh38]
Chr16:8906898 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.348-19_348-18del deletion PMM2-congenital disorder of glycosylation [RCV003619603] Chr16:8811059..8811060 [GRCh38]
Chr16:8904916..8904917 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.577C>G (p.Leu193Val) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003619862] Chr16:8813044 [GRCh38]
Chr16:8906901 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.459A>G (p.Ile153Met) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003619917] Chr16:8811649 [GRCh38]
Chr16:8905506 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.179-20T>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620320] Chr16:8804747 [GRCh38]
Chr16:8898604 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.339G>C (p.Pro113=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620030] Chr16:8806399 [GRCh38]
Chr16:8900256 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.639+9A>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620595] Chr16:8813115 [GRCh38]
Chr16:8906972 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.66+20C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620601] Chr16:8797968 [GRCh38]
Chr16:8891825 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.524-17C>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003620611] Chr16:8812974 [GRCh38]
Chr16:8906831 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.523+16C>G single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003835413] Chr16:8811729 [GRCh38]
Chr16:8905586 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.66_66+1delinsTA indel PMM2-congenital disorder of glycosylation [RCV003621101] Chr16:8797948..8797949 [GRCh38]
Chr16:8891805..8891806 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.48C>A (p.Thr16=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621183] Chr16:8797930 [GRCh38]
Chr16:8891787 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.67-15T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003862129] Chr16:8801784 [GRCh38]
Chr16:8895641 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.691G>C (p.Val231Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003866711] Chr16:8847775 [GRCh38]
Chr16:8941632 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.63G>A (p.Arg21=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621322] Chr16:8797945 [GRCh38]
Chr16:8891802 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.348-8A>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621012] Chr16:8811071 [GRCh38]
Chr16:8904928 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.448-18T>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003824109] Chr16:8811620 [GRCh38]
Chr16:8905477 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.66+9C>T single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003844463] Chr16:8797957 [GRCh38]
Chr16:8891814 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.691G>T (p.Val231Leu) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003862996] Chr16:8847775 [GRCh38]
Chr16:8941632 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.523+19G>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003822007] Chr16:8811732 [GRCh38]
Chr16:8905589 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.721T>C (p.Cys241Arg) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621237] Chr16:8847805 [GRCh38]
Chr16:8941662 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.615T>C (p.Tyr205=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003852933] Chr16:8813082 [GRCh38]
Chr16:8906939 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.600T>A (p.Gly200=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003861160] Chr16:8813067 [GRCh38]
Chr16:8906924 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.54C>T (p.Thr18=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621179] Chr16:8797936 [GRCh38]
Chr16:8891793 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.448-16T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621055] Chr16:8811622 [GRCh38]
Chr16:8905479 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.52A>G (p.Thr18Ala) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621133] Chr16:8797934 [GRCh38]
Chr16:8891791 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.682G>A (p.Gly228Ser) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621222] Chr16:8847766 [GRCh38]
Chr16:8941623 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.609C>T (p.Thr203=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003840910] Chr16:8813076 [GRCh38]
Chr16:8906933 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.324G>C (p.Ala108=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621034] Chr16:8806384 [GRCh38]
Chr16:8900241 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.621T>C (p.Phe207=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003843013] Chr16:8813088 [GRCh38]
Chr16:8906945 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.105G>A (p.Leu35=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621009] Chr16:8801837 [GRCh38]
Chr16:8895694 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.386T>C (p.Val129Ala) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621151] Chr16:8811117 [GRCh38]
Chr16:8904974 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_000303.3(PMM2):c.448-15T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621166] Chr16:8811623 [GRCh38]
Chr16:8905480 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.447+19T>A single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621218] Chr16:8811197 [GRCh38]
Chr16:8905054 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.458T>A (p.Ile153Lys) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003822449] Chr16:8811648 [GRCh38]
Chr16:8905505 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.531G>A (p.Gln177=) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621089] Chr16:8812998 [GRCh38]
Chr16:8906855 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.67-20T>C single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621246] Chr16:8801779 [GRCh38]
Chr16:8895636 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.716G>C (p.Arg239Thr) single nucleotide variant PMM2-congenital disorder of glycosylation [RCV003621479] Chr16:8847800 [GRCh38]
Chr16:8941657 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NC_000016.10:g.8797723G>A single nucleotide variant PMM2-related condition [RCV003894510] Chr16:8797723 [GRCh38]
Chr16:8891580 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.714C>T (p.Arg238=) single nucleotide variant PMM2-related condition [RCV003944275] Chr16:8847798 [GRCh38]
Chr16:8941655 [GRCh37]
Chr16:16p13.2		 likely benign
NM_000303.3(PMM2):c.*9C>T single nucleotide variant PMM2-related condition [RCV003981579] Chr16:8847834 [GRCh38]
Chr16:8941691 [GRCh37]
Chr16:16p13.2		 likely benign
GRCh37/hg19 16p13.2(chr16:8772448-8949474)x1 copy number loss not specified [RCV003987131] Chr16:8772448..8949474 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_000303.3(PMM2):c.96A>C (p.Leu32=) single nucleotide variant PMM2-related condition [RCV003904435] Chr16:8801828 [GRCh38]
Chr16:8895685 [GRCh37]
Chr16:16p13.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5665
Count of miRNA genes:1111
Interacting mature miRNAs:1372
Transcripts:ENST00000268261, ENST00000537352, ENST00000539622, ENST00000562025, ENST00000562318, ENST00000562448, ENST00000564030, ENST00000564069, ENST00000565221, ENST00000565837, ENST00000565896, ENST00000566196, ENST00000566540, ENST00000566604, ENST00000566983, ENST00000567697, ENST00000568602, ENST00000569958, ENST00000570076, ENST00000570134
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
SHGC-60564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,921,039 - 8,921,174UniSTSGRCh37
Build 36168,828,540 - 8,828,675RGDNCBI36
Celera169,091,035 - 9,091,170RGD
Cytogenetic Map16p13UniSTS
HuRef168,843,146 - 8,843,281UniSTS
GeneMap99-GB4 RH Map1678.53UniSTS
Whitehead-RH Map1644.2UniSTS
SHGC-60763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,939,679 - 8,939,829UniSTSGRCh37
Build 36168,847,180 - 8,847,330RGDNCBI36
Celera169,106,453 - 9,106,603RGD
Cytogenetic Map16p13UniSTS
HuRef168,860,811 - 8,860,961UniSTS
GeneMap99-GB4 RH Map16101.21UniSTS
Whitehead-RH Map1646.3UniSTS
NCBI RH Map16102.0UniSTS
RH48187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,890,598 - 8,890,737UniSTSGRCh37
Build 36168,798,099 - 8,798,238RGDNCBI36
Celera169,059,991 - 9,060,130RGD
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16p13UniSTS
HuRef168,813,043 - 8,813,182UniSTS
GeneMap99-GB4 RH Map1682.2UniSTS
STS-AA022584  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16p13UniSTS
GeneMap99-GB4 RH Map1879.55UniSTS
MARC_26359-29406:1040140027:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,898,647 - 8,900,243UniSTSGRCh37
Celera169,068,039 - 9,069,635UniSTS
HuRef168,821,097 - 8,822,693UniSTS


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 687 352 461 246 386 102 1400 110 332 60 370 657 156 1 630 617 2 2
Low 1752 2589 1260 376 1536 361 2957 2065 2963 355 1089 953 19 574 2171 4
Below cutoff 50 5 2 29 2 22 439 4 1 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF811414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM973590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC366756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY814483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U85773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000268261   ⟹   ENSP00000268261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,839 - 8,849,325 (+)Ensembl
RefSeq Acc Id: ENST00000562025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,842,207 - 8,848,119 (+)Ensembl
RefSeq Acc Id: ENST00000562318   ⟹   ENSP00000454395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,842 - 8,848,051 (+)Ensembl
RefSeq Acc Id: ENST00000562448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,842 - 8,806,679 (+)Ensembl
RefSeq Acc Id: ENST00000564030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,821 - 8,807,034 (+)Ensembl
RefSeq Acc Id: ENST00000564069   ⟹   ENSP00000455320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,912 - 8,813,067 (+)Ensembl
RefSeq Acc Id: ENST00000564919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,853,312 - 8,854,347 (+)Ensembl
RefSeq Acc Id: ENST00000565221   ⟹   ENSP00000457932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,867 - 8,848,030 (+)Ensembl
RefSeq Acc Id: ENST00000565837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,788,840 - 8,795,662 (+)Ensembl
RefSeq Acc Id: ENST00000565896   ⟹   ENSP00000456024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,842 - 8,811,667 (+)Ensembl
RefSeq Acc Id: ENST00000565934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,849,339 - 8,860,417 (+)Ensembl
RefSeq Acc Id: ENST00000566196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,839 - 8,802,389 (+)Ensembl
RefSeq Acc Id: ENST00000566540   ⟹   ENSP00000454284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,842 - 8,848,777 (+)Ensembl
RefSeq Acc Id: ENST00000566604   ⟹   ENSP00000456774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,837 - 8,848,124 (+)Ensembl
RefSeq Acc Id: ENST00000566983   ⟹   ENSP00000457956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,788,823 - 8,847,868 (+)Ensembl
RefSeq Acc Id: ENST00000567697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,807,564 - 8,849,313 (+)Ensembl
RefSeq Acc Id: ENST00000568602   ⟹   ENSP00000455066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,842 - 8,811,111 (+)Ensembl
RefSeq Acc Id: ENST00000569958   ⟹   ENSP00000456302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,867 - 8,848,039 (+)Ensembl
RefSeq Acc Id: ENST00000570076   ⟹   ENSP00000456961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,850 - 8,848,322 (+)Ensembl
RefSeq Acc Id: ENST00000570134   ⟹   ENSP00000456275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,838 - 8,829,258 (+)Ensembl
RefSeq Acc Id: ENST00000613908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,859,813 - 8,860,456 (+)Ensembl
RefSeq Acc Id: ENST00000682008   ⟹   ENSP00000507849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,716 - 8,813,385 (+)Ensembl
RefSeq Acc Id: ENST00000682393   ⟹   ENSP00000506774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,842 - 8,856,412 (+)Ensembl
RefSeq Acc Id: ENST00000683094   ⟹   ENSP00000508230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,828 - 8,854,356 (+)Ensembl
RefSeq Acc Id: ENST00000683274   ⟹   ENSP00000507262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,842 - 8,862,124 (+)Ensembl
RefSeq Acc Id: ENST00000683435   ⟹   ENSP00000508092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,797,810 - 8,847,965 (+)Ensembl
RefSeq Acc Id: ENST00000683761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,848,766 - 8,856,245 (+)Ensembl
RefSeq Acc Id: ENST00000684347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,859,947 - 8,862,534 (+)Ensembl
RefSeq Acc Id: NM_000303   ⟹   NP_000294
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,797,839 - 8,849,325 (+)NCBI
GRCh37168,891,670 - 8,943,194 (+)ENTREZGENE
GRCh37168,891,670 - 8,943,194 (+)NCBI
Build 36168,799,193 - 8,850,684 (+)NCBI Archive
HuRef168,814,114 - 8,864,329 (+)ENTREZGENE
CHM1_1168,891,570 - 8,943,150 (+)NCBI
T2T-CHM13v2.0168,830,591 - 8,882,071 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434215   ⟹   XP_047290171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,801,802 - 8,849,325 (+)NCBI
RefSeq Acc Id: XM_054380477   ⟹   XP_054236452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0168,834,552 - 8,882,071 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000294 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290171 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236452 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC51368 (Get FASTA)   NCBI Sequence Viewer  
  AAD45895 (Get FASTA)   NCBI Sequence Viewer  
  AAH08310 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33723 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33724 (Get FASTA)   NCBI Sequence Viewer  
  ATG31855 (Get FASTA)   NCBI Sequence Viewer  
  BAD92896 (Get FASTA)   NCBI Sequence Viewer  
  BAF84226 (Get FASTA)   NCBI Sequence Viewer  
  BAG35431 (Get FASTA)   NCBI Sequence Viewer  
  BAH12262 (Get FASTA)   NCBI Sequence Viewer  
  BAH12405 (Get FASTA)   NCBI Sequence Viewer  
  BAH13187 (Get FASTA)   NCBI Sequence Viewer  
  BAH13346 (Get FASTA)   NCBI Sequence Viewer  
  BAH14158 (Get FASTA)   NCBI Sequence Viewer  
  EAW85200 (Get FASTA)   NCBI Sequence Viewer  
  EAW85201 (Get FASTA)   NCBI Sequence Viewer  
  EAW85202 (Get FASTA)   NCBI Sequence Viewer  
  EAW85203 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000268261
  ENSP00000268261.4
  ENSP00000454284.1
  ENSP00000454395.1
  ENSP00000455066.1
  ENSP00000455320.1
  ENSP00000456024.1
  ENSP00000456275.1
  ENSP00000456302.1
  ENSP00000456774.1
  ENSP00000456961.1
  ENSP00000457932.1
  ENSP00000457956.1
  ENSP00000506774.1
  ENSP00000507262.1
  ENSP00000507849.1
  ENSP00000508092.1
  ENSP00000508230.1
GenBank Protein O15305 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_000294   ⟸   NM_000303
- UniProtKB: B7Z6R0 (UniProtKB/Swiss-Prot),   A8K672 (UniProtKB/Swiss-Prot),   D3DUF3 (UniProtKB/Swiss-Prot),   O15305 (UniProtKB/Swiss-Prot),   A0A0S2Z4J6 (UniProtKB/TrEMBL),   A0A291FGD1 (UniProtKB/TrEMBL),   B2R6D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000456302   ⟸   ENST00000569958
RefSeq Acc Id: ENSP00000268261   ⟸   ENST00000268261
RefSeq Acc Id: ENSP00000456275   ⟸   ENST00000570134
RefSeq Acc Id: ENSP00000456961   ⟸   ENST00000570076
RefSeq Acc Id: ENSP00000454395   ⟸   ENST00000562318
RefSeq Acc Id: ENSP00000455320   ⟸   ENST00000564069
RefSeq Acc Id: ENSP00000457932   ⟸   ENST00000565221
RefSeq Acc Id: ENSP00000456024   ⟸   ENST00000565896
RefSeq Acc Id: ENSP00000456774   ⟸   ENST00000566604
RefSeq Acc Id: ENSP00000454284   ⟸   ENST00000566540
RefSeq Acc Id: ENSP00000457956   ⟸   ENST00000566983
RefSeq Acc Id: ENSP00000455066   ⟸   ENST00000568602
RefSeq Acc Id: ENSP00000507849   ⟸   ENST00000682008
RefSeq Acc Id: ENSP00000508092   ⟸   ENST00000683435
RefSeq Acc Id: ENSP00000506774   ⟸   ENST00000682393
RefSeq Acc Id: ENSP00000507262   ⟸   ENST00000683274
RefSeq Acc Id: ENSP00000508230   ⟸   ENST00000683094
RefSeq Acc Id: XP_047290171   ⟸   XM_047434215
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054236452   ⟸   XM_054380477
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15305-F1-model_v2 AlphaFold O15305 1-246 view protein structure

Promoters
RGD ID:7231281
Promoter ID:EPDNEW_H21387
Type:initiation region
Name:PMM2_1
Description:phosphomannomutase 2
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
GRCh38168,797,842 - 8,797,902EPDNEW
RGD ID:6793381
Promoter ID:HG_KWN:22980
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_000303,   OTTHUMT00000251903,   UC010BUJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36168,798,156 - 8,799,772 (+)MPROMDB
RGD ID:6850588
Promoter ID:EP73085
Type:initiation region
Name:HS_PMM2
Description:Phosphomannomutase 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36168,799,200 - 8,799,260EPD
RGD ID:6793380
Promoter ID:HG_KWN:22981
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002CZG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36168,848,931 - 8,850,967 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9115 AgrOrtholog
COSMIC PMM2 COSMIC
Ensembl Genes ENSG00000140650 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000268261 ENTREZGENE
  ENST00000268261.9 UniProtKB/Swiss-Prot
  ENST00000562318.5 UniProtKB/TrEMBL
  ENST00000564069.1 UniProtKB/TrEMBL
  ENST00000565221.5 UniProtKB/TrEMBL
  ENST00000565896.5 UniProtKB/TrEMBL
  ENST00000566540.5 UniProtKB/TrEMBL
  ENST00000566604.5 UniProtKB/Swiss-Prot
  ENST00000566983.5 UniProtKB/TrEMBL
  ENST00000568602.5 UniProtKB/TrEMBL
  ENST00000569958.5 UniProtKB/TrEMBL
  ENST00000570076.5 UniProtKB/TrEMBL
  ENST00000570134.5 UniProtKB/TrEMBL
  ENST00000682008.1 UniProtKB/TrEMBL
  ENST00000682393.1 UniProtKB/TrEMBL
  ENST00000683094.1 UniProtKB/TrEMBL
  ENST00000683274.1 UniProtKB/Swiss-Prot
  ENST00000683435.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1240.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140650 GTEx
HGNC ID HGNC:9115 ENTREZGENE
Human Proteome Map PMM2 Human Proteome Map
InterPro HAD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-SF_hydro_IIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PMM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PMM_cap UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5373 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5373 ENTREZGENE
OMIM 601785 OMIM
PANTHER PHOSPHOMANNOMUTASE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10466 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PMM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33441 PharmGKB
Superfamily-SCOP SSF56784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z4J6 ENTREZGENE, UniProtKB/TrEMBL
  A0A291FGD1 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKA7_HUMAN UniProtKB/TrEMBL
  A8K672 ENTREZGENE
  B2R6D4 ENTREZGENE, UniProtKB/TrEMBL
  B7Z6R0 ENTREZGENE
  D3DUF3 ENTREZGENE
  H3BM92_HUMAN UniProtKB/TrEMBL
  H3BNY9_HUMAN UniProtKB/TrEMBL
  H3BPH4_HUMAN UniProtKB/TrEMBL
  H3BR08_HUMAN UniProtKB/TrEMBL
  H3BRM0_HUMAN UniProtKB/TrEMBL
  H3BT06_HUMAN UniProtKB/TrEMBL
  H3BV34_HUMAN UniProtKB/TrEMBL
  H3BV55_HUMAN UniProtKB/TrEMBL
  O15305 ENTREZGENE, UniProtKB/Swiss-Prot
  Q59F02_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K672 UniProtKB/Swiss-Prot
  B7Z6R0 UniProtKB/Swiss-Prot
  D3DUF3 UniProtKB/Swiss-Prot