PIGQ (phosphatidylinositol glycan anchor biosynthesis class Q) - Rat Genome Database

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Gene: PIGQ (phosphatidylinositol glycan anchor biosynthesis class Q) Homo sapiens
Analyze
Symbol: PIGQ
Name: phosphatidylinositol glycan anchor biosynthesis class Q
RGD ID: 1347377
HGNC Page HGNC:14135
Description: Predicted to contribute to phosphatidylinositol N-acetylglucosaminyltransferase activity. Involved in GPI anchor biosynthetic process. Located in endoplasmic reticulum membrane. Part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex. Implicated in multiple congenital anomalies-hypotonia-seizures syndrome 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: c407A10.1; c407A10.1 (GPI1 (N-acetylglucosaminyl transferase component)); DEE77; EIEE77; FLJ56783; GPI1; GPIBD19; hGPI1; MCAHS4; MGC12693; N-acetylglucosaminyl transferase component Gpi1; N-acetylglucosamyl transferase component GPI1; phosphatidylinositol glycan anchor biosynthesis, class Q; phosphatidylinositol glycan, class Q; phosphatidylinositol N-acetylglucosaminyltransferase subunit Q; phosphatidylinositol-glycan biosynthesis class Q protein; PIG-Q
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PIGQP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3816569,968 - 584,109 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl16566,995 - 584,109 (+)EnsemblGRCh38hg38GRCh38
GRCh3716619,968 - 634,109 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3616560,005 - 574,110 (+)NCBINCBI36Build 36hg18NCBI36
Build 3416560,004 - 574,109NCBI
Celera16820,410 - 834,887 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef16541,643 - 556,095 (+)NCBIHuRef
CHM1_116619,978 - 634,251 (+)NCBICHM1_1
T2T-CHM13v2.016573,385 - 587,926 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
Abdominal wall muscle weakness  (IAGP)
Absent thumbnail  (IAGP)
Alacrima  (IAGP)
Anteverted nares  (IAGP)
Astigmatism  (IAGP)
Atonic seizure  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad finger  (IAGP)
Broad nasal tip  (IAGP)
Broad phalanx of the toes  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Choreoathetosis  (IAGP)
Cleft palate  (IAGP)
Coarse facial features  (IAGP)
Deep plantar creases  (IAGP)
Delayed myelination  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Diastasis recti  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Downturned corners of mouth  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
EEG with burst suppression  (IAGP)
EEG with spike-wave complexes  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Epileptic encephalopathy  (IAGP)
Episodic ataxia  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Focal motor seizure  (IAGP)
Focal tonic seizure  (IAGP)
Focal-onset seizure  (IAGP)
Full cheeks  (IAGP)
Generalized clonic seizure  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Generalized-onset seizure  (IAGP)
Global developmental delay  (IAGP)
Hooded upper eyelid  (IAGP)
Hyperactivity  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypsarrhythmia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Lethargy  (IAGP)
Long philtrum  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Multifocal seizures  (IAGP)
Myoclonic seizure  (IAGP)
Myoclonus  (IAGP)
Optic atrophy  (IAGP)
Pachygyria  (IAGP)
Pectus excavatum  (IAGP)
Plagiocephaly  (IAGP)
Polyhydramnios  (IAGP)
Poor head control  (IAGP)
Poor suck  (IAGP)
Precocious puberty  (IAGP)
Ptosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Renal cortical cysts  (IAGP)
Renal dysplasia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Short finger  (IAGP)
Sleep abnormality  (IAGP)
Sloping forehead  (IAGP)
Smooth philtrum  (IAGP)
Soft skin  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Telecanthus  (IAGP)
Thin upper lip vermilion  (IAGP)
Tremor  (IAGP)
Umbilical hernia  (IAGP)
Uni- and bilateral multifocal epileptiform discharges  (IAGP)
Uplifted earlobe  (IAGP)
Ureterocele  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vertical nystagmus  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide anterior fontanel  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9463366   PMID:9729469   PMID:10373468   PMID:10944123   PMID:11102867   PMID:11157797   PMID:11418246   PMID:12477932   PMID:14702039   PMID:15231748   PMID:15489334   PMID:15616553  
PMID:16162815   PMID:16344560   PMID:19851296   PMID:20198315   PMID:21873635   PMID:22993228   PMID:24463883   PMID:25114068   PMID:26186194   PMID:28514442   PMID:29117863   PMID:32588908  
PMID:33144569   PMID:33961781   PMID:36724073   PMID:36736316   PMID:37105505  


Genomics

Comparative Map Data
PIGQ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3816569,968 - 584,109 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl16566,995 - 584,109 (+)EnsemblGRCh38hg38GRCh38
GRCh3716619,968 - 634,109 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3616560,005 - 574,110 (+)NCBINCBI36Build 36hg18NCBI36
Build 3416560,004 - 574,109NCBI
Celera16820,410 - 834,887 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef16541,643 - 556,095 (+)NCBIHuRef
CHM1_116619,978 - 634,251 (+)NCBICHM1_1
T2T-CHM13v2.016573,385 - 587,926 (+)NCBIT2T-CHM13v2.0
Pigq
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391726,145,398 - 26,161,855 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1726,145,395 - 26,163,910 (-)EnsemblGRCm39 Ensembl
GRCm381725,926,420 - 25,942,881 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1725,926,421 - 25,944,936 (-)EnsemblGRCm38mm10GRCm38
MGSCv371726,063,369 - 26,078,907 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361725,654,024 - 25,669,562 (-)NCBIMGSCv36mm8
Celera1726,459,444 - 26,474,992 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1713.01NCBI
Pigq
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81015,447,080 - 15,463,088 (-)NCBIGRCr8
mRatBN7.21014,942,571 - 14,958,584 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1014,942,577 - 14,958,584 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1019,681,739 - 19,697,787 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01019,170,614 - 19,186,668 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01014,670,700 - 14,686,739 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01015,289,530 - 15,305,593 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1015,289,536 - 15,305,549 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01015,102,505 - 15,118,589 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41015,188,278 - 15,204,292 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11015,188,278 - 15,204,665 (-)NCBI
Celera1014,611,423 - 14,627,428 (-)NCBICelera
Cytogenetic Map10q12NCBI
Pigq
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544216,620,009 - 16,631,343 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544216,620,009 - 16,635,308 (-)NCBIChiLan1.0ChiLan1.0
PIGQ
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v218812,338 - 826,594 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1164,596,020 - 4,610,283 (+)NCBINHGRI_mPanPan1
PanPan1.116585,901 - 600,482 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl16585,901 - 600,482 (+)Ensemblpanpan1.1panPan2
PIGQ
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1639,971,069 - 39,980,128 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl639,971,057 - 39,981,039 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha641,234,149 - 41,246,681 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0640,312,749 - 40,325,281 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl640,312,752 - 40,324,121 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1640,001,242 - 40,013,769 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0639,961,417 - 39,973,948 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0640,440,630 - 40,453,163 (-)NCBIUU_Cfam_GSD_1.0
Pigq
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344112,317,372 - 112,332,023 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936501414,905 - 429,600 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936501415,232 - 429,902 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIGQ
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl341,160,657 - 41,176,318 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1341,164,399 - 41,177,453 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2341,262,708 - 41,274,620 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PIGQ
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.15492,997 - 505,084 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl5496,568 - 505,997 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606830,654,057 - 30,666,927 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pigq
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249131,383,624 - 1,397,396 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249131,380,178 - 1,397,399 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PIGQ
698 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004204.5(PIGQ):c.556G>A (p.Val186Met) single nucleotide variant Epilepsy [RCV000530335] Chr16:574630 [GRCh38]
Chr16:624630 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.290G>T (p.Cys97Phe) single nucleotide variant Epilepsy [RCV000550247] Chr16:574364 [GRCh38]
Chr16:624364 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del) deletion Developmental and epileptic encephalopathy, 77 [RCV000850141]|Epilepsy [RCV001240418]|Inborn genetic diseases [RCV000624078]|not provided [RCV000518905] Chr16:578912..578914 [GRCh38]
Chr16:628912..628914 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_004204.5(PIGQ):c.34G>A (p.Val12Ile) single nucleotide variant Epilepsy [RCV000554015]|not provided [RCV004715252] Chr16:574108 [GRCh38]
Chr16:624108 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1514G>A (p.Arg505Gln) single nucleotide variant Epilepsy [RCV000542907] Chr16:580955 [GRCh38]
Chr16:630955 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.75G>A (p.Pro25=) single nucleotide variant Epilepsy [RCV000544297]|PIGQ-related disorder [RCV003925581]|not provided [RCV004716521] Chr16:574149 [GRCh38]
Chr16:624149 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.400C>T (p.Arg134Cys) single nucleotide variant Epilepsy [RCV000542483]|not provided [RCV003333992] Chr16:574474 [GRCh38]
Chr16:624474 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1253C>G (p.Ser418Cys) single nucleotide variant Epilepsy [RCV000530146] Chr16:579098 [GRCh38]
Chr16:629098 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.892G>A (p.Gly298Arg) single nucleotide variant Epilepsy [RCV000544645] Chr16:576204 [GRCh38]
Chr16:626204 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.350C>T (p.Ala117Val) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV003224316]|Epilepsy [RCV000532331]|Inborn genetic diseases [RCV002528302]|PIGQ-related disorder [RCV004735595]|not provided [RCV002510912] Chr16:574424 [GRCh38]
Chr16:624424 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_004204.5(PIGQ):c.1568G>A (p.Gly523Asp) single nucleotide variant Epilepsy [RCV000551218]|PIGQ-related disorder [RCV003905326]|not provided [RCV004715251] Chr16:582284 [GRCh38]
Chr16:632284 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.236G>A (p.Arg79His) single nucleotide variant Epilepsy [RCV000525332] Chr16:574310 [GRCh38]
Chr16:624310 [GRCh37]
Chr16:16p13.3		 uncertain significance
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 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 copy number gain See cases [RCV000052369] Chr16:46566..1800860 [GRCh38]
Chr16:96566..1850861 [GRCh37]
Chr16:36566..1790862 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:239680-589745)x3 copy number gain See cases [RCV000052371] Chr16:239680..589745 [GRCh38]
Chr16:289679..639745 [GRCh37]
Chr16:229680..579746 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1773349)x1 copy number loss See cases [RCV000053251] Chr16:23141..1773349 [GRCh38]
Chr16:73141..1823350 [GRCh37]
Chr16:13141..1763351 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 copy number loss See cases [RCV000053252] Chr16:23141..1712523 [GRCh38]
Chr16:73141..1762524 [GRCh37]
Chr16:13141..1702525 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 copy number loss See cases [RCV000053253] Chr16:46766..1997582 [GRCh38]
Chr16:96766..2047583 [GRCh37]
Chr16:36766..1987584 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:105429-1499893)x1 copy number loss See cases [RCV000053267] Chr16:105429..1499893 [GRCh38]
Chr16:155427..1549894 [GRCh37]
Chr16:95427..1489895 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_004204.3(PIGQ):c.1141C>T (p.Leu381=) single nucleotide variant Malignant melanoma [RCV000071172] Chr16:578856 [GRCh38]
Chr16:628856 [GRCh37]
Chr16:568857 [NCBI36]
Chr16:16p13.3		 not provided
NM_004204.5(PIGQ):c.208C>T (p.Arg70Trp) single nucleotide variant Epilepsy [RCV001303329] Chr16:574282 [GRCh38]
Chr16:624282 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.690-2A>G single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV000128637] Chr16:575837 [GRCh38]
Chr16:625837 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
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 16p13.3(chr16:46766-1544014)x1 copy number loss See cases [RCV000134917] Chr16:46766..1544014 [GRCh38]
Chr16:96766..1594015 [GRCh37]
Chr16:36766..1534016 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:551385-722554)x3 copy number gain See cases [RCV000135264] Chr16:551385..722554 [GRCh38]
Chr16:601385..772554 [GRCh37]
Chr16:541386..712555 [NCBI36]
Chr16:16p13.3		 likely benign
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 copy number loss See cases [RCV000137826] Chr16:46722..1867327 [GRCh38]
Chr16:96722..1917328 [GRCh37]
Chr16:36722..1857329 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-882211)x1 copy number loss See cases [RCV000137979] Chr16:46766..882211 [GRCh38]
Chr16:96766..932211 [GRCh37]
Chr16:36766..872212 [NCBI36]
Chr16:16p13.3		 pathogenic|uncertain significance
GRCh38/hg38 16p13.3(chr16:412341-925326)x3 copy number gain See cases [RCV000139354] Chr16:412341..925326 [GRCh38]
Chr16:462341..975326 [GRCh37]
Chr16:402342..915327 [NCBI36]
Chr16:16p13.3		 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 16p13.3(chr16:534395-722554)x3 copy number gain See cases [RCV000140349] Chr16:534395..722554 [GRCh38]
Chr16:584395..772554 [GRCh37]
Chr16:524396..712555 [NCBI36]
Chr16:16p13.3		 benign
GRCh38/hg38 16p13.3(chr16:59980-1221651)x1 copy number loss See cases [RCV000141384] Chr16:59980..1221651 [GRCh38]
Chr16:109978..1271651 [GRCh37]
Chr16:49978..1211652 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:35880-605262)x1 copy number loss See cases [RCV000143709] Chr16:35880..605262 [GRCh38]
Chr16:85880..655262 [GRCh37]
Chr16:25880..595263 [NCBI36]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV000850139]|Epilepsy [RCV002516438]|Global developmental delay [RCV000162174] Chr16:574693 [GRCh38]
Chr16:624693 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3(chr16:450686-1007236)x3 copy number gain See cases [RCV000239842] Chr16:450686..1007236 [GRCh37]
Chr16:16p13.3		 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
NM_004204.5(PIGQ):c.1291G>A (p.Val431Ile) single nucleotide variant Epilepsy [RCV000544898]|Inborn genetic diseases [RCV004023744]|not provided [RCV002060294] Chr16:579136 [GRCh38]
Chr16:629136 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.613G>T (p.Ala205Ser) single nucleotide variant Epilepsy [RCV000545078]|Inborn genetic diseases [RCV003258855] Chr16:574687 [GRCh38]
Chr16:624687 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:97494-1257060)x3 copy number gain Breast ductal adenocarcinoma [RCV000207237] Chr16:97494..1257060 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:324072-705832)x3 copy number gain Breast ductal adenocarcinoma [RCV000207302] Chr16:324072..705832 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:88165-1715454)x1 copy number loss See cases [RCV000239415] Chr16:88165..1715454 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.942+1G>A single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001290116]|Epilepsy [RCV000537621]|Inborn genetic diseases [RCV002527652]|PIGQ-related disorder [RCV000787940]|not provided [RCV000518843] Chr16:576255 [GRCh38]
Chr16:626255 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_004204.5(PIGQ):c.996C>T (p.Ala332=) single nucleotide variant Epilepsy [RCV000548397]|PIGQ-related disorder [RCV003960253]|not provided [RCV003333993] Chr16:578432 [GRCh38]
Chr16:628432 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.690-3C>T single nucleotide variant Epilepsy [RCV000529537] Chr16:575836 [GRCh38]
Chr16:625836 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:72769-1511716)x1 copy number loss See cases [RCV000240294] Chr16:72769..1511716 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.473G>A (p.Ser158Asn) single nucleotide variant Epilepsy [RCV000552038] Chr16:574547 [GRCh38]
Chr16:624547 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:239130-841725)x3 copy number gain See cases [RCV000240506] Chr16:239130..841725 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.943-77A>G single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544400]|not provided [RCV001658277]|not specified [RCV004598024] Chr16:578302 [GRCh38]
Chr16:628302 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1336-94C>T single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544402]|not provided [RCV001694081]|not specified [RCV004594349] Chr16:580089 [GRCh38]
Chr16:630089 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1416+104C>T single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544403]|not provided [RCV001615282]|not specified [RCV004594350] Chr16:580367 [GRCh38]
Chr16:630367 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1416+142T>G single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544404]|not provided [RCV001647410] Chr16:580405 [GRCh38]
Chr16:630405 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1532-133G>A single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544406]|not provided [RCV001685497] Chr16:582115 [GRCh38]
Chr16:632115 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1532-68G>C single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544510]|not provided [RCV001673183]|not specified [RCV004594352] Chr16:582180 [GRCh38]
Chr16:632180 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1592A>C (p.Gln531Pro) single nucleotide variant not provided [RCV000489571] Chr16:582308 [GRCh38]
Chr16:632308 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1532-23T>C single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544034]|not provided [RCV001685487]|not specified [RCV004594346] Chr16:582225 [GRCh38]
Chr16:632225 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.225G>A (p.Glu75=) single nucleotide variant Epilepsy [RCV000549889] Chr16:574299 [GRCh38]
Chr16:624299 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.295G>A (p.Glu99Lys) single nucleotide variant Epilepsy [RCV000528533] Chr16:574369 [GRCh38]
Chr16:624369 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1505G>A (p.Arg502Gln) single nucleotide variant Epilepsy [RCV000532728]|PIGQ-related disorder [RCV003925580]|not provided [RCV002263733] Chr16:580946 [GRCh38]
Chr16:630946 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.1485G>A (p.Pro495=) single nucleotide variant Epilepsy [RCV000559559]|not provided [RCV003884597] Chr16:580926 [GRCh38]
Chr16:630926 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.165C>T (p.Ala55=) single nucleotide variant Epilepsy [RCV000535136] Chr16:574239 [GRCh38]
Chr16:624239 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.620G>A (p.Arg207Gln) single nucleotide variant Epilepsy [RCV000560318]|not provided [RCV004568727] Chr16:574694 [GRCh38]
Chr16:624694 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1209C>T (p.Tyr403=) single nucleotide variant Epilepsy [RCV000556373]|PIGQ-related disorder [RCV003905325]|not provided [RCV003389812] Chr16:578924 [GRCh38]
Chr16:628924 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:85880-754083)x1 copy number loss See cases [RCV000446474] Chr16:85880..754083 [GRCh37]
Chr16:16p13.3		 pathogenic
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
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:106859-735154)x3 copy number gain See cases [RCV000511218] Chr16:106859..735154 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-643107)x1 copy number loss See cases [RCV000510746] Chr16:85880..643107 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1274G>T (p.Arg425Leu) single nucleotide variant Epilepsy [RCV000630801] Chr16:579119 [GRCh38]
Chr16:629119 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.10:g.(?_578765)_(579200_?)del deletion Epilepsy [RCV000630802] Chr16:578765..579200 [GRCh38]
Chr16:628765..629200 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NM_004204.5(PIGQ):c.752G>A (p.Arg251Gln) single nucleotide variant Epilepsy [RCV000630797]|Inborn genetic diseases [RCV004955723]|PIGQ-related disorder [RCV003980217] Chr16:575901 [GRCh38]
Chr16:625901 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.322G>A (p.Glu108Lys) single nucleotide variant Epilepsy [RCV000539259] Chr16:574396 [GRCh38]
Chr16:624396 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.91G>A (p.Val31Met) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001803903]|Epilepsy [RCV000630780]|Inborn genetic diseases [RCV002528845]|not provided [RCV002293466] Chr16:574165 [GRCh38]
Chr16:624165 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1020G>A (p.Leu340=) single nucleotide variant Epilepsy [RCV000630792] Chr16:578456 [GRCh38]
Chr16:628456 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.486G>C (p.Leu162=) single nucleotide variant Epilepsy [RCV000630795] Chr16:574560 [GRCh38]
Chr16:624560 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.849G>T (p.Leu283=) single nucleotide variant Epilepsy [RCV000630800]|PIGQ-related disorder [RCV003953109]|not provided [RCV003392469] Chr16:576161 [GRCh38]
Chr16:626161 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1546C>A (p.Arg516Ser) single nucleotide variant Epilepsy [RCV000535916]|not provided [RCV003222017] Chr16:582262 [GRCh38]
Chr16:632262 [GRCh37]
Chr16:16p13.3		 likely benign
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_004204.5(PIGQ):c.634A>C (p.Ile212Leu) single nucleotide variant Epilepsy [RCV000630783]|Inborn genetic diseases [RCV004025390] Chr16:574708 [GRCh38]
Chr16:624708 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.689G>A (p.Arg230Gln) single nucleotide variant Epilepsy [RCV000630785] Chr16:574763 [GRCh38]
Chr16:624763 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1302G>T (p.Gln434His) single nucleotide variant Epilepsy [RCV000630787] Chr16:579147 [GRCh38]
Chr16:629147 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.183C>T (p.Ala61=) single nucleotide variant Epilepsy [RCV000630789] Chr16:574257 [GRCh38]
Chr16:624257 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1617C>T (p.Arg539=) single nucleotide variant Epilepsy [RCV000556811]|not provided [RCV003392364] Chr16:582906 [GRCh38]
Chr16:632906 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_004204.5(PIGQ):c.915G>C (p.Leu305=) single nucleotide variant Epilepsy [RCV000534417]|not provided [RCV001675913] Chr16:576227 [GRCh38]
Chr16:626227 [GRCh37]
Chr16:16p13.3		 benign
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
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_004204.5(PIGQ):c.1117G>A (p.Val373Met) single nucleotide variant Epilepsy [RCV000630775]|Inborn genetic diseases [RCV002528844]|not provided [RCV002060713] Chr16:578832 [GRCh38]
Chr16:628832 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1571G>A (p.Arg524Lys) single nucleotide variant Epilepsy [RCV000630782]|PIGQ-related disorder [RCV003953107] Chr16:582287 [GRCh38]
Chr16:632287 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.41C>T (p.Thr14Met) single nucleotide variant Epilepsy [RCV000630796]|Inborn genetic diseases [RCV003258893]|PIGQ-related disorder [RCV003928051]|not provided [RCV003392468] Chr16:574115 [GRCh38]
Chr16:624115 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.676G>A (p.Val226Ile) single nucleotide variant Epilepsy [RCV000630779]|Inborn genetic diseases [RCV004025389] Chr16:574750 [GRCh38]
Chr16:624750 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.477G>A (p.Thr159=) single nucleotide variant Epilepsy [RCV000630790]|PIGQ-related disorder [RCV004735686] Chr16:574551 [GRCh38]
Chr16:624551 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.918C>T (p.Ala306=) single nucleotide variant Epilepsy [RCV000559310]|PIGQ-related disorder [RCV003942726]|not provided [RCV003389813] Chr16:576230 [GRCh38]
Chr16:626230 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1517C>T (p.Pro506Leu) single nucleotide variant Epilepsy [RCV000557604] Chr16:580958 [GRCh38]
Chr16:630958 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.968_969del (p.Leu323fs) deletion Developmental and epileptic encephalopathy, 77 [RCV000850140]|Epilepsy [RCV000816707]|Inborn genetic diseases [RCV000623033] Chr16:578404..578405 [GRCh38]
Chr16:628404..628405 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NM_004204.5(PIGQ):c.335G>A (p.Arg112Gln) single nucleotide variant Epilepsy [RCV000630774]|Inborn genetic diseases [RCV004955722] Chr16:574409 [GRCh38]
Chr16:624409 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1685G>A (p.Arg562His) single nucleotide variant Epilepsy [RCV000630776]|Inborn genetic diseases [RCV004659130] Chr16:582974 [GRCh38]
Chr16:632974 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.1487T>C (p.Leu496Pro) single nucleotide variant Epilepsy [RCV000630784]|Inborn genetic diseases [RCV004025391] Chr16:580928 [GRCh38]
Chr16:630928 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.77A>G (p.Glu26Gly) single nucleotide variant Epilepsy [RCV000630786] Chr16:574151 [GRCh38]
Chr16:624151 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.925C>G (p.Leu309Val) single nucleotide variant Epilepsy [RCV000630793]|PIGQ-related disorder [RCV003953108]|not provided [RCV003392467] Chr16:576237 [GRCh38]
Chr16:626237 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1116C>T (p.His372=) single nucleotide variant Epilepsy [RCV000630794]|not provided [RCV003222068] Chr16:578831 [GRCh38]
Chr16:628831 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.27G>A (p.Thr9=) single nucleotide variant Epilepsy [RCV000540049]|not provided [RCV004716520] Chr16:574101 [GRCh38]
Chr16:624101 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.810C>T (p.Ala270=) single nucleotide variant Epilepsy [RCV000558948]|PIGQ-related disorder [RCV003905327]|not provided [RCV004715253] Chr16:575959 [GRCh38]
Chr16:625959 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.885G>T (p.Trp295Cys) single nucleotide variant Epilepsy [RCV000630777] Chr16:576197 [GRCh38]
Chr16:626197 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.476C>T (p.Thr159Met) single nucleotide variant Epilepsy [RCV000630778] Chr16:574550 [GRCh38]
Chr16:624550 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.39_40delinsAG (p.Thr14Ala) indel Epilepsy [RCV000630781] Chr16:574113..574114 [GRCh38]
Chr16:624113..624114 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1461C>T (p.Leu487=) single nucleotide variant Epilepsy [RCV000630788] Chr16:580902 [GRCh38]
Chr16:630902 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.429G>A (p.Leu143=) single nucleotide variant Epilepsy [RCV000630791]|PIGQ-related disorder [RCV003928050]|not provided [RCV004546537] Chr16:574503 [GRCh38]
Chr16:624503 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1615C>T (p.Arg539Cys) single nucleotide variant Epilepsy [RCV000630798]|PIGQ-related disorder [RCV004735687]|not provided [RCV004705728] Chr16:582904 [GRCh38]
Chr16:632904 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1557G>C (p.Arg519=) single nucleotide variant Epilepsy [RCV000630799] Chr16:582273 [GRCh38]
Chr16:632273 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.688C>T (p.Arg230Ter) single nucleotide variant Epilepsy [RCV000700963] Chr16:574762 [GRCh38]
Chr16:624762 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1498731)x1 copy number loss not provided [RCV000683740] Chr16:85880..1498731 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 copy number loss not provided [RCV000683741] Chr16:85880..1875694 [GRCh37]
Chr16:16p13.3		 pathogenic
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
NM_004204.5(PIGQ):c.643C>G (p.Leu215Val) single nucleotide variant Epilepsy [RCV000698905] Chr16:574717 [GRCh38]
Chr16:624717 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.242T>C (p.Leu81Pro) single nucleotide variant Epilepsy [RCV000701100] Chr16:574316 [GRCh38]
Chr16:624316 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.919G>A (p.Asp307Asn) single nucleotide variant Epilepsy [RCV000702138]|Inborn genetic diseases [RCV002533647] Chr16:576231 [GRCh38]
Chr16:626231 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.74C>T (p.Pro25Leu) single nucleotide variant Epilepsy [RCV000687967] Chr16:574148 [GRCh38]
Chr16:624148 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.(?_582883)_(648190_?)del deletion Epilepsy [RCV000708134] Chr16:582883..648190 [GRCh38]
Chr16:632883..698190 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1631dup (p.Tyr544Ter) duplication Epilepsy [RCV000699180] Chr16:582919..582920 [GRCh38]
Chr16:632919..632920 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1130C>T (p.Ala377Val) single nucleotide variant Epilepsy [RCV000694259] Chr16:578845 [GRCh38]
Chr16:628845 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1730G>A (p.Gly577Glu) single nucleotide variant Epilepsy [RCV000692181] Chr16:583019 [GRCh38]
Chr16:633019 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1223+6C>T single nucleotide variant Epilepsy [RCV000700260] Chr16:578944 [GRCh38]
Chr16:628944 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1634G>A (p.Arg545His) single nucleotide variant Epilepsy [RCV000686800] Chr16:582923 [GRCh38]
Chr16:632923 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1438G>A (p.Val480Met) single nucleotide variant Epilepsy [RCV000697455]|Inborn genetic diseases [RCV002533487] Chr16:580879 [GRCh38]
Chr16:630879 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1675G>A (p.Ala559Thr) single nucleotide variant Epilepsy [RCV000697469]|Inborn genetic diseases [RCV003243264] Chr16:582964 [GRCh38]
Chr16:632964 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1454A>G (p.His485Arg) single nucleotide variant Epilepsy [RCV000687610]|Inborn genetic diseases [RCV004026269] Chr16:580895 [GRCh38]
Chr16:630895 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.902G>A (p.Arg301His) single nucleotide variant Epilepsy [RCV000696585]|Inborn genetic diseases [RCV002533458]|not provided [RCV003326491] Chr16:576214 [GRCh38]
Chr16:626214 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1628C>G (p.Thr543Ser) single nucleotide variant Epilepsy [RCV000686984]|Inborn genetic diseases [RCV004026254] Chr16:582917 [GRCh38]
Chr16:632917 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.821+3G>A single nucleotide variant Epilepsy [RCV000692218] Chr16:575973 [GRCh38]
Chr16:625973 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1345G>A (p.Gly449Arg) single nucleotide variant not provided [RCV000714595] Chr16:580192 [GRCh38]
Chr16:630192 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.-9-1501A>G single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544396]|not provided [RCV004715503]|not specified [RCV004594347] Chr16:572565 [GRCh38]
Chr16:572565..572566 [GRCh38]
Chr16:622565 [GRCh37]
Chr16:622565..622566 [GRCh37]
Chr16:16p13.3		 benign
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 16p13.3(chr16:591586-642610)x1 copy number loss not provided [RCV000738947] Chr16:591586..642610 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:591586-784800)x3 copy number gain not provided [RCV000738948] Chr16:591586..784800 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:593277-623238)x4 copy number gain not provided [RCV000738949] Chr16:593277..623238 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:593277-640329)x3 copy number gain not provided [RCV000738950] Chr16:593277..640329 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:593277-685708)x3 copy number gain not provided [RCV000738951] Chr16:593277..685708 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:608264-633843)x3 copy number gain not provided [RCV000738952] Chr16:608264..633843 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:610419-776308)x1 copy number loss not provided [RCV000738955] Chr16:610419..776308 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:624108-780942)x3 copy number gain not provided [RCV000738956] Chr16:624108..780942 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:624108-784800)x3 copy number gain not provided [RCV000738957] Chr16:624108..784800 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:569754-781623)x3 copy number gain not provided [RCV000751474] Chr16:569754..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:569754-847743)x3 copy number gain not provided [RCV000751475] Chr16:569754..847743 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:570466-781623)x3 copy number gain not provided [RCV000751476] Chr16:570466..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:572044-623238)x4 copy number gain not provided [RCV000751477] Chr16:572044..623238 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:575312-700644)x3 copy number gain not provided [RCV000751478] Chr16:575312..700644 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:580124-875402)x1 copy number loss not provided [RCV000751479] Chr16:580124..875402 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:61451-1593645)x1 copy number loss not provided [RCV000751445] Chr16:61451..1593645 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:450309-951598)x3 copy number gain not provided [RCV000751466] Chr16:450309..951598 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:569754-623238)x4 copy number gain not provided [RCV000751471] Chr16:569754..623238 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:569754-700644)x4 copy number gain not provided [RCV000751472] Chr16:569754..700644 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:569754-747013)x3 copy number gain not provided [RCV000751473] Chr16:569754..747013 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1335+265C>T single nucleotide variant not provided [RCV001669267] Chr16:579445 [GRCh38]
Chr16:629445 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.*318T>C single nucleotide variant not provided [RCV001693003]|not specified [RCV004594517] Chr16:583353 [GRCh38]
Chr16:633353 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.794A>G (p.Lys265Arg) single nucleotide variant Epilepsy [RCV001055080] Chr16:575943 [GRCh38]
Chr16:625943 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1741G>A (p.Asp581Asn) single nucleotide variant Epilepsy [RCV001055936] Chr16:583030 [GRCh38]
Chr16:633030 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.946G>A (p.Val316Met) single nucleotide variant Epilepsy [RCV001056806] Chr16:578382 [GRCh38]
Chr16:628382 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1594-184C>G single nucleotide variant not provided [RCV001690641] Chr16:582699 [GRCh38]
Chr16:632699 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1674C>T (p.Gly558=) single nucleotide variant Epilepsy [RCV000878625]|Inborn genetic diseases [RCV002536800] Chr16:582963 [GRCh38]
Chr16:632963 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.970C>T (p.Leu324=) single nucleotide variant Epilepsy [RCV001428302] Chr16:578406 [GRCh38]
Chr16:628406 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.798G>A (p.Ala266=) single nucleotide variant Epilepsy [RCV000879170] Chr16:575947 [GRCh38]
Chr16:625947 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1737G>A (p.Lys579=) single nucleotide variant Epilepsy [RCV003530114] Chr16:583026 [GRCh38]
Chr16:633026 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.498C>T (p.Phe166=) single nucleotide variant Epilepsy [RCV000949152] Chr16:574572 [GRCh38]
Chr16:624572 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.805C>T (p.Pro269Ser) single nucleotide variant Epilepsy [RCV001050516] Chr16:575954 [GRCh38]
Chr16:625954 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.445G>A (p.Asp149Asn) single nucleotide variant Epilepsy [RCV001044611]|not provided [RCV004693498] Chr16:574519 [GRCh38]
Chr16:624519 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1421G>A (p.Arg474Gln) single nucleotide variant Epilepsy [RCV001046746]|Inborn genetic diseases [RCV004958400] Chr16:580862 [GRCh38]
Chr16:630862 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1210G>A (p.Val404Ile) single nucleotide variant Epilepsy [RCV001047597]|Inborn genetic diseases [RCV002553166] Chr16:578925 [GRCh38]
Chr16:628925 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1505G>T (p.Arg502Leu) single nucleotide variant Epilepsy [RCV001070320]|Inborn genetic diseases [RCV004960432] Chr16:580946 [GRCh38]
Chr16:630946 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.564G>A (p.Leu188=) single nucleotide variant Epilepsy [RCV000916769] Chr16:574638 [GRCh38]
Chr16:624638 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1650C>G (p.Gly550=) single nucleotide variant Epilepsy [RCV001400217] Chr16:582939 [GRCh38]
Chr16:632939 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.412C>T (p.Leu138=) single nucleotide variant Epilepsy [RCV000918409] Chr16:574486 [GRCh38]
Chr16:624486 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.120C>T (p.Phe40=) single nucleotide variant Epilepsy [RCV001416237] Chr16:574194 [GRCh38]
Chr16:624194 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1447C>T (p.Leu483=) single nucleotide variant Epilepsy [RCV001485204] Chr16:580888 [GRCh38]
Chr16:630888 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.690-4G>A single nucleotide variant Epilepsy [RCV000879032] Chr16:575835 [GRCh38]
Chr16:625835 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.937G>A (p.Ala313Thr) single nucleotide variant Inborn genetic diseases [RCV003267545] Chr16:576249 [GRCh38]
Chr16:626249 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.529C>T (p.Arg177Cys) single nucleotide variant Epilepsy [RCV000818917] Chr16:574603 [GRCh38]
Chr16:624603 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1530G>A (p.Ala510=) single nucleotide variant Epilepsy [RCV000820745] Chr16:580971 [GRCh38]
Chr16:630971 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.231G>A (p.Leu77=) single nucleotide variant Epilepsy [RCV001444472] Chr16:574305 [GRCh38]
Chr16:624305 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1336-3C>T single nucleotide variant Epilepsy [RCV000814526] Chr16:580180 [GRCh38]
Chr16:630180 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1555C>T (p.Arg519Trp) single nucleotide variant Epilepsy [RCV000794555] Chr16:582271 [GRCh38]
Chr16:632271 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1628C>T (p.Thr543Ile) single nucleotide variant Epilepsy [RCV000816457]|not provided [RCV002469298] Chr16:582917 [GRCh38]
Chr16:632917 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1531+3A>T single nucleotide variant Epilepsy [RCV000807022] Chr16:580975 [GRCh38]
Chr16:630975 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.178G>A (p.Val60Met) single nucleotide variant Epilepsy [RCV000791772] Chr16:574252 [GRCh38]
Chr16:624252 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.605C>T (p.Ala202Val) single nucleotide variant Epilepsy [RCV000821876] Chr16:574679 [GRCh38]
Chr16:624679 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1546C>T (p.Arg516Cys) single nucleotide variant Epilepsy [RCV000816701]|not provided [RCV002293488] Chr16:582262 [GRCh38]
Chr16:632262 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.422T>C (p.Leu141Pro) single nucleotide variant Epilepsy [RCV000808558]|Inborn genetic diseases [RCV002537290] Chr16:574496 [GRCh38]
Chr16:624496 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.499G>A (p.Asp167Asn) single nucleotide variant Epilepsy [RCV000812781]|Inborn genetic diseases [RCV002537379] Chr16:574573 [GRCh38]
Chr16:624573 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.355G>A (p.Gly119Ser) single nucleotide variant Epilepsy [RCV000822148]|Inborn genetic diseases [RCV004958174]|not provided [RCV002292586] Chr16:574429 [GRCh38]
Chr16:624429 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.1094_1095inv (p.Phe365Ter) inversion Epilepsy [RCV000813302] Chr16:578809..578810 [GRCh38]
Chr16:628809..628810 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.832A>G (p.Thr278Ala) single nucleotide variant Epilepsy [RCV000805867] Chr16:576144 [GRCh38]
Chr16:626144 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1145C>T (p.Thr382Met) single nucleotide variant Epilepsy [RCV000809697] Chr16:578860 [GRCh38]
Chr16:628860 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.341C>T (p.Ala114Val) single nucleotide variant Epilepsy [RCV000812115] Chr16:574415 [GRCh38]
Chr16:624415 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.737C>T (p.Thr246Met) single nucleotide variant Epilepsy [RCV000817180] Chr16:575886 [GRCh38]
Chr16:625886 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.158G>A (p.Arg53Gln) single nucleotide variant Epilepsy [RCV000808085]|not provided [RCV001815480] Chr16:574232 [GRCh38]
Chr16:624232 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.527T>C (p.Phe176Ser) single nucleotide variant Epilepsy [RCV000823995] Chr16:574601 [GRCh38]
Chr16:624601 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.65G>A (p.Arg22Gln) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001542280]|Epilepsy [RCV000810709]|Inborn genetic diseases [RCV002537339] Chr16:574139 [GRCh38]
Chr16:624139 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.618del (p.Arg206fs) deletion Epilepsy [RCV000798268] Chr16:574691 [GRCh38]
Chr16:624691 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NM_004204.5(PIGQ):c.1717T>A (p.Trp573Arg) single nucleotide variant Epilepsy [RCV000811132] Chr16:583006 [GRCh38]
Chr16:633006 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.721G>A (p.Gly241Arg) single nucleotide variant Epilepsy [RCV000793681] Chr16:575870 [GRCh38]
Chr16:625870 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1113G>A (p.Trp371Ter) single nucleotide variant Epilepsy [RCV000795788] Chr16:578828 [GRCh38]
Chr16:628828 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NM_004204.5(PIGQ):c.874C>G (p.Leu292Val) single nucleotide variant Epilepsy [RCV000810870] Chr16:576186 [GRCh38]
Chr16:626186 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.943-3C>T single nucleotide variant Epilepsy [RCV000812229] Chr16:578376 [GRCh38]
Chr16:628376 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.49G>A (p.Gly17Arg) single nucleotide variant PIGQ-related disorder [RCV000788055] Chr16:574123 [GRCh38]
Chr16:624123 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.907G>A (p.Gly303Arg) single nucleotide variant Epilepsy [RCV000794552] Chr16:576219 [GRCh38]
Chr16:626219 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1504C>T (p.Arg502Trp) single nucleotide variant Epilepsy [RCV000799710] Chr16:580945 [GRCh38]
Chr16:630945 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.604G>A (p.Ala202Thr) single nucleotide variant Epilepsy [RCV000794907]|Inborn genetic diseases [RCV003353024]|not provided [RCV001772049] Chr16:574678 [GRCh38]
Chr16:624678 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1177G>A (p.Ala393Thr) single nucleotide variant Epilepsy [RCV000797521] Chr16:578892 [GRCh38]
Chr16:628892 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV000811345] Chr16:624055..2115656 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1417-3C>T single nucleotide variant Epilepsy [RCV001056953] Chr16:580855 [GRCh38]
Chr16:630855 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-830613)x1 copy number loss not provided [RCV000846660] Chr16:85880..830613 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 copy number loss not provided [RCV000849039] Chr16:85880..2053328 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1468459)x1 copy number loss not provided [RCV000848130] Chr16:85880..1468459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1430T>C (p.Val477Ala) single nucleotide variant Epilepsy [RCV001245573]|not provided [RCV002275324] Chr16:580871 [GRCh38]
Chr16:630871 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1256C>T (p.Ser419Leu) single nucleotide variant Epilepsy [RCV001227233]|Inborn genetic diseases [RCV004032597] Chr16:579101 [GRCh38]
Chr16:629101 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.157C>T (p.Arg53Trp) single nucleotide variant Epilepsy [RCV001221157] Chr16:574231 [GRCh38]
Chr16:624231 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1416+3G>A single nucleotide variant Epilepsy [RCV001227197] Chr16:580266 [GRCh38]
Chr16:630266 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1166C>T (p.Ser389Leu) single nucleotide variant Epilepsy [RCV001218249]|not provided [RCV004695203] Chr16:578881 [GRCh38]
Chr16:628881 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1382C>T (p.Pro461Leu) single nucleotide variant Epilepsy [RCV001235725]|Inborn genetic diseases [RCV002563836] Chr16:580229 [GRCh38]
Chr16:630229 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.913C>G (p.Leu305Val) single nucleotide variant Epilepsy [RCV001219029]|Inborn genetic diseases [RCV002562468] Chr16:576225 [GRCh38]
Chr16:626225 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.638_639delinsTT (p.Cys213Phe) indel Epilepsy [RCV001229569] Chr16:574712..574713 [GRCh38]
Chr16:624712..624713 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1532-50T>A single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544033]|not provided [RCV001647397]|not specified [RCV004594345] Chr16:582198 [GRCh38]
Chr16:632198 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.*729G>A single nucleotide variant not provided [RCV001638610] Chr16:583764 [GRCh38]
Chr16:633764 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1335+267A>G single nucleotide variant not provided [RCV001676145] Chr16:579447 [GRCh38]
Chr16:629447 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1335+278A>G single nucleotide variant not provided [RCV001680041] Chr16:579458 [GRCh38]
Chr16:629458 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1335+267_1335+338del deletion not provided [RCV001708008] Chr16:579428..579499 [GRCh38]
Chr16:629428..629499 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1532-24G>A single nucleotide variant not provided [RCV001652892] Chr16:582224 [GRCh38]
Chr16:632224 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1556G>A (p.Arg519Gln) single nucleotide variant Epilepsy [RCV000878310] Chr16:582272 [GRCh38]
Chr16:632272 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1437C>T (p.Ala479=) single nucleotide variant Epilepsy [RCV000952185] Chr16:580878 [GRCh38]
Chr16:630878 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.616A>C (p.Arg206=) single nucleotide variant Epilepsy [RCV000952350] Chr16:574690 [GRCh38]
Chr16:624690 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.579G>A (p.Ser193=) single nucleotide variant Epilepsy [RCV000974802]|PIGQ-related disorder [RCV003953343] Chr16:574653 [GRCh38]
Chr16:624653 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1602A>G (p.Pro534=) single nucleotide variant Epilepsy [RCV001485139]|Inborn genetic diseases [RCV002539282] Chr16:582891 [GRCh38]
Chr16:632891 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.219C>T (p.Pro73=) single nucleotide variant Epilepsy [RCV000907423] Chr16:574293 [GRCh38]
Chr16:624293 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.690-5C>T single nucleotide variant Epilepsy [RCV001394000] Chr16:575834 [GRCh38]
Chr16:625834 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1251G>A (p.Leu417=) single nucleotide variant Epilepsy [RCV002065608] Chr16:579096 [GRCh38]
Chr16:629096 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1223+7G>A single nucleotide variant Epilepsy [RCV000909585] Chr16:578945 [GRCh38]
Chr16:628945 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.720C>T (p.Leu240=) single nucleotide variant Epilepsy [RCV001446127] Chr16:575869 [GRCh38]
Chr16:625869 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.943-5T>C single nucleotide variant Epilepsy [RCV000885827] Chr16:578374 [GRCh38]
Chr16:628374 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_624055)_(2148005_?)del deletion Tuberous sclerosis 2 [RCV001033183] Chr16:624055..2148005 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.*671C>T single nucleotide variant not provided [RCV001643709] Chr16:583706 [GRCh38]
Chr16:633706 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1633C>T (p.Arg545Cys) single nucleotide variant Epilepsy [RCV001203612] Chr16:582922 [GRCh38]
Chr16:632922 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1462G>A (p.Val488Met) single nucleotide variant Epilepsy [RCV001203668] Chr16:580903 [GRCh38]
Chr16:630903 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.412C>G (p.Leu138Val) single nucleotide variant Epilepsy [RCV001245136] Chr16:574486 [GRCh38]
Chr16:624486 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.38C>G (p.Ser13Trp) single nucleotide variant Epilepsy [RCV001205935] Chr16:574112 [GRCh38]
Chr16:624112 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1688A>G (p.Lys563Arg) single nucleotide variant Epilepsy [RCV001064531]|Inborn genetic diseases [RCV004030540] Chr16:582977 [GRCh38]
Chr16:632977 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.1501C>T (p.Leu501Phe) single nucleotide variant Epilepsy [RCV000890948]|PIGQ-related disorder [RCV003940678]|not provided [RCV003235431] Chr16:580942 [GRCh38]
Chr16:630942 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004204.5(PIGQ):c.115C>T (p.Pro39Ser) single nucleotide variant Epilepsy [RCV003011690] Chr16:574189 [GRCh38]
Chr16:624189 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1166355)x1 copy number loss not provided [RCV001006741] Chr16:85880..1166355 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:364182-1186480)x3 copy number gain not provided [RCV001006744] Chr16:364182..1186480 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1336-158C>G single nucleotide variant not provided [RCV001595376] Chr16:580025 [GRCh38]
Chr16:630025 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1532-175C>T single nucleotide variant not provided [RCV001597764] Chr16:582073 [GRCh38]
Chr16:632073 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.943-249A>G single nucleotide variant not provided [RCV001618929] Chr16:578130 [GRCh38]
Chr16:628130 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1532-197T>C single nucleotide variant not provided [RCV001596198] Chr16:582051 [GRCh38]
Chr16:632051 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1417-148A>G single nucleotide variant not provided [RCV001595702] Chr16:580710 [GRCh38]
Chr16:630710 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1594-155T>C single nucleotide variant not provided [RCV001673558] Chr16:582728 [GRCh38]
Chr16:632728 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1335+278_1335+349del deletion not provided [RCV001686517] Chr16:579448..579519 [GRCh38]
Chr16:629448..629519 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.*319G>A single nucleotide variant not provided [RCV001615840]|not specified [RCV004594387] Chr16:583354 [GRCh38]
Chr16:633354 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.194C>T (p.Thr65Ile) single nucleotide variant Epilepsy [RCV001061639] Chr16:574268 [GRCh38]
Chr16:624268 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.*808A>G single nucleotide variant not provided [RCV001669216] Chr16:583843 [GRCh38]
Chr16:633843 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.*90T>C single nucleotide variant not provided [RCV001668076]|not specified [RCV004594488] Chr16:583125 [GRCh38]
Chr16:633125 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1532-237C>T single nucleotide variant not provided [RCV001666322] Chr16:582011 [GRCh38]
Chr16:632011 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.942+92A>C single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544399]|not provided [RCV001647409]|not specified [RCV004594348] Chr16:576346 [GRCh38]
Chr16:626346 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1224-63C>T single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544401]|not provided [RCV001615281] Chr16:579006 [GRCh38]
Chr16:629006 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1532-110C>T single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544407]|not provided [RCV001698679]|not specified [RCV004594351] Chr16:582138 [GRCh38]
Chr16:632138 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.*816T>C single nucleotide variant not provided [RCV001642063] Chr16:583851 [GRCh38]
Chr16:633851 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1594-116A>G single nucleotide variant not provided [RCV001710045]|not specified [RCV004594538] Chr16:582767 [GRCh38]
Chr16:632767 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.82A>T (p.Ser28Cys) single nucleotide variant Epilepsy [RCV001206084]|Inborn genetic diseases [RCV002561212] Chr16:574156 [GRCh38]
Chr16:624156 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1137G>A (p.Leu379=) single nucleotide variant Epilepsy [RCV001039281] Chr16:578852 [GRCh38]
Chr16:628852 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.586G>A (p.Val196Met) single nucleotide variant Epilepsy [RCV001217484]|Inborn genetic diseases [RCV002562977] Chr16:574660 [GRCh38]
Chr16:624660 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:106988-735154)x3 copy number gain not provided [RCV001006742] Chr16:106988..735154 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.184G>A (p.Val62Met) single nucleotide variant Epilepsy [RCV001035437] Chr16:574258 [GRCh38]
Chr16:624258 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.872T>C (p.Met291Thr) single nucleotide variant Epilepsy [RCV001211046] Chr16:576184 [GRCh38]
Chr16:626184 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1151C>T (p.Ala384Val) single nucleotide variant Epilepsy [RCV001232771] Chr16:578866 [GRCh38]
Chr16:628866 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.512G>A (p.Arg171His) single nucleotide variant Epilepsy [RCV001046514]|Inborn genetic diseases [RCV003283892]|not provided [RCV001664641] Chr16:574586 [GRCh38]
Chr16:624586 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1417C>T (p.Leu473Phe) single nucleotide variant Epilepsy [RCV001211612] Chr16:580858 [GRCh38]
Chr16:630858 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.856G>A (p.Val286Met) single nucleotide variant Epilepsy [RCV001210772] Chr16:576168 [GRCh38]
Chr16:626168 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1258C>G (p.Leu420Val) single nucleotide variant Epilepsy [RCV001204735] Chr16:579103 [GRCh38]
Chr16:629103 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1537G>A (p.Val513Met) single nucleotide variant Epilepsy [RCV001228606] Chr16:582253 [GRCh38]
Chr16:632253 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.334C>T (p.Arg112Trp) single nucleotide variant Epilepsy [RCV001257261] Chr16:574408 [GRCh38]
Chr16:624408 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_632883)_(698190_?)del deletion Epilepsy [RCV001314118] Chr16:632883..698190 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.797C>T (p.Ala266Val) single nucleotide variant Epilepsy [RCV001337152] Chr16:575946 [GRCh38]
Chr16:625946 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.751C>T (p.Arg251Trp) single nucleotide variant Epilepsy [RCV001349019] Chr16:575900 [GRCh38]
Chr16:625900 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1528G>T (p.Ala510Ser) single nucleotide variant Epilepsy [RCV001337167] Chr16:580969 [GRCh38]
Chr16:630969 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.719T>C (p.Leu240Pro) single nucleotide variant Epilepsy [RCV001305723] Chr16:575868 [GRCh38]
Chr16:625868 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.530G>A (p.Arg177His) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV004727096]|Epilepsy [RCV001299244] Chr16:574604 [GRCh38]
Chr16:624604 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.1370T>G (p.Leu457Arg) single nucleotide variant Epilepsy [RCV001302799]|Inborn genetic diseases [RCV004036254] Chr16:580217 [GRCh38]
Chr16:630217 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.618G>C (p.Arg206Ser) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV003483811]|Epilepsy [RCV001302514] Chr16:574692 [GRCh38]
Chr16:624692 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_004204.5(PIGQ):c.856G>T (p.Val286Leu) single nucleotide variant Epilepsy [RCV001342779] Chr16:576168 [GRCh38]
Chr16:626168 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1640C>G (p.Pro547Arg) single nucleotide variant Epilepsy [RCV001324978] Chr16:582929 [GRCh38]
Chr16:632929 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1580G>A (p.Arg527His) single nucleotide variant Epilepsy [RCV001313668] Chr16:582296 [GRCh38]
Chr16:632296 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2153916_?)dup duplication Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] Chr16:624055..2153916 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1513C>T (p.Arg505Trp) single nucleotide variant Epilepsy [RCV001316350] Chr16:580954 [GRCh38]
Chr16:630954 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.332A>C (p.His111Pro) single nucleotide variant Epilepsy [RCV001369049] Chr16:574406 [GRCh38]
Chr16:624406 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.211C>T (p.Gln71Ter) single nucleotide variant Epilepsy [RCV001382377] Chr16:574285 [GRCh38]
Chr16:624285 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1162C>T (p.Leu388Phe) single nucleotide variant Epilepsy [RCV001371028] Chr16:578877 [GRCh38]
Chr16:628877 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.19T>G (p.Phe7Val) single nucleotide variant Epilepsy [RCV001362562]|Inborn genetic diseases [RCV004036842] Chr16:574093 [GRCh38]
Chr16:624093 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1594-147T>C single nucleotide variant not provided [RCV001536484] Chr16:582736 [GRCh38]
Chr16:632736 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.560G>A (p.Arg187Gln) single nucleotide variant Epilepsy [RCV001371990] Chr16:574634 [GRCh38]
Chr16:624634 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.503C>T (p.Thr168Met) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV003224561]|Epilepsy [RCV001373536] Chr16:574577 [GRCh38]
Chr16:624577 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1560C>G (p.His520Gln) single nucleotide variant Epilepsy [RCV001323858] Chr16:582276 [GRCh38]
Chr16:632276 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1561G>A (p.Glu521Lys) single nucleotide variant Epilepsy [RCV001369165] Chr16:582277 [GRCh38]
Chr16:632277 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.608A>C (p.Glu203Ala) single nucleotide variant Epilepsy [RCV001316510] Chr16:574682 [GRCh38]
Chr16:624682 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.538C>T (p.Arg180Cys) single nucleotide variant Epilepsy [RCV001359076]|not provided [RCV003389868] Chr16:574612 [GRCh38]
Chr16:624612 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.220G>A (p.Glu74Lys) single nucleotide variant Epilepsy [RCV001312917] Chr16:574294 [GRCh38]
Chr16:624294 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1618G>A (p.Val540Met) single nucleotide variant Epilepsy [RCV001373983]|Inborn genetic diseases [RCV004952853] Chr16:582907 [GRCh38]
Chr16:632907 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.148G>T (p.Ala50Ser) single nucleotide variant Epilepsy [RCV001345245]|Inborn genetic diseases [RCV003169668]|not provided [RCV001762583] Chr16:574222 [GRCh38]
Chr16:624222 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.23C>A (p.Pro8His) single nucleotide variant Epilepsy [RCV001363839] Chr16:574097 [GRCh38]
Chr16:624097 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1096G>A (p.Val366Met) single nucleotide variant Epilepsy [RCV001363890] Chr16:578811 [GRCh38]
Chr16:628811 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1593+1G>T single nucleotide variant Epilepsy [RCV001297427] Chr16:582310 [GRCh38]
Chr16:632310 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1547G>A (p.Arg516His) single nucleotide variant Epilepsy [RCV001340206]|not provided [RCV004692591] Chr16:582263 [GRCh38]
Chr16:632263 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.945C>T (p.His315=) single nucleotide variant Epilepsy [RCV001413958] Chr16:578381 [GRCh38]
Chr16:628381 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1578_1579del (p.Arg527fs) deletion Developmental and epileptic encephalopathy, 77 [RCV001290115] Chr16:582294..582295 [GRCh38]
Chr16:632294..632295 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.951C>T (p.Ala317=) single nucleotide variant Epilepsy [RCV001422090]|not provided [RCV003394043] Chr16:578387 [GRCh38]
Chr16:628387 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.364G>C (p.Gly122Arg) single nucleotide variant Epilepsy [RCV001327438] Chr16:574438 [GRCh38]
Chr16:624438 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1273C>T (p.Arg425Trp) single nucleotide variant Epilepsy [RCV001365418] Chr16:579118 [GRCh38]
Chr16:629118 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.928G>A (p.Val310Ile) single nucleotide variant Epilepsy [RCV001339484]|Inborn genetic diseases [RCV002546874] Chr16:576240 [GRCh38]
Chr16:626240 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.1720A>G (p.Arg574Gly) single nucleotide variant Epilepsy [RCV001315359] Chr16:583009 [GRCh38]
Chr16:633009 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1167G>A (p.Ser389=) single nucleotide variant Epilepsy [RCV001370469] Chr16:578882 [GRCh38]
Chr16:628882 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1035C>T (p.Gly345=) single nucleotide variant Epilepsy [RCV001438303] Chr16:578471 [GRCh38]
Chr16:628471 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1531+9del deletion Epilepsy [RCV001479200] Chr16:580981 [GRCh38]
Chr16:630981 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.603C>T (p.Leu201=) single nucleotide variant Epilepsy [RCV001476152] Chr16:574677 [GRCh38]
Chr16:624677 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.216G>A (p.Glu72=) single nucleotide variant Epilepsy [RCV001490949]|PIGQ-related disorder [RCV003980424] Chr16:574290 [GRCh38]
Chr16:624290 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.855C>T (p.Asp285=) single nucleotide variant Epilepsy [RCV001451619] Chr16:576167 [GRCh38]
Chr16:626167 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.993C>T (p.Pro331=) single nucleotide variant Epilepsy [RCV001496657]|PIGQ-related disorder [RCV003900713] Chr16:578429 [GRCh38]
Chr16:628429 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.40A>G (p.Thr14Ala) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544397]|Epilepsy [RCV001511372]|not provided [RCV001685377]|not specified [RCV004594279] Chr16:574114 [GRCh38]
Chr16:624114 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1461C>G (p.Leu487=) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544405]|Epilepsy [RCV001511374]|not provided [RCV001692395] Chr16:580902 [GRCh38]
Chr16:630902 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.639C>T (p.Cys213=) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544398]|Epilepsy [RCV001511373]|not provided [RCV001685378]|not specified [RCV004594280] Chr16:574713 [GRCh38]
Chr16:624713 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1378C>T (p.Leu460=) single nucleotide variant Epilepsy [RCV001475502] Chr16:580225 [GRCh38]
Chr16:630225 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1191C>T (p.Phe397=) single nucleotide variant Epilepsy [RCV001485205] Chr16:578906 [GRCh38]
Chr16:628906 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1413C>G (p.Thr471=) single nucleotide variant Epilepsy [RCV001497292] Chr16:580260 [GRCh38]
Chr16:630260 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.741C>T (p.Cys247=) single nucleotide variant Epilepsy [RCV001393165] Chr16:575890 [GRCh38]
Chr16:625890 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.492C>T (p.Ala164=) single nucleotide variant Epilepsy [RCV001489729] Chr16:574566 [GRCh38]
Chr16:624566 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.708C>T (p.Pro236=) single nucleotide variant Epilepsy [RCV001474734] Chr16:575857 [GRCh38]
Chr16:625857 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.663G>A (p.Ser221=) single nucleotide variant Epilepsy [RCV001434974] Chr16:574737 [GRCh38]
Chr16:624737 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.979C>T (p.Leu327=) single nucleotide variant Epilepsy [RCV001491983] Chr16:578415 [GRCh38]
Chr16:628415 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1224-10C>T single nucleotide variant Epilepsy [RCV001488518] Chr16:579059 [GRCh38]
Chr16:629059 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.480G>T (p.Gly160=) single nucleotide variant Epilepsy [RCV001498102] Chr16:574554 [GRCh38]
Chr16:624554 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.969G>A (p.Leu323=) single nucleotide variant Epilepsy [RCV001419801] Chr16:578405 [GRCh38]
Chr16:628405 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1416+10G>A single nucleotide variant Epilepsy [RCV001431700] Chr16:580273 [GRCh38]
Chr16:630273 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.821+7G>T single nucleotide variant Epilepsy [RCV001440442] Chr16:575977 [GRCh38]
Chr16:625977 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1179C>T (p.Ala393=) single nucleotide variant Epilepsy [RCV001445805]|not provided [RCV002264322] Chr16:578894 [GRCh38]
Chr16:628894 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.894G>A (p.Gly298=) single nucleotide variant Epilepsy [RCV001401899] Chr16:576206 [GRCh38]
Chr16:626206 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.102G>A (p.Ala34=) single nucleotide variant Epilepsy [RCV001486187] Chr16:574176 [GRCh38]
Chr16:624176 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.804C>T (p.Asn268=) single nucleotide variant Epilepsy [RCV001502481] Chr16:575953 [GRCh38]
Chr16:625953 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.402C>G (p.Arg134=) single nucleotide variant Epilepsy [RCV001465341] Chr16:574476 [GRCh38]
Chr16:624476 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1532-17del deletion Developmental and epileptic encephalopathy, 77 [RCV001544035]|Epilepsy [RCV001511375]|not provided [RCV001655742]|not specified [RCV004594281] Chr16:582231 [GRCh38]
Chr16:632231 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1532-15T>C single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544036]|Epilepsy [RCV001511376]|not provided [RCV001673072]|not specified [RCV004594282] Chr16:582233 [GRCh38]
Chr16:582233..582234 [GRCh38]
Chr16:632233 [GRCh37]
Chr16:632233..632234 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1567G>A (p.Gly523Ser) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001544037]|Epilepsy [RCV001511377]|not provided [RCV001673073] Chr16:582283 [GRCh38]
Chr16:632283 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1417-193G>A single nucleotide variant not provided [RCV001691660] Chr16:580665 [GRCh38]
Chr16:630665 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.*899C>T single nucleotide variant not provided [RCV001695907] Chr16:583934 [GRCh38]
Chr16:633934 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.690-169C>T single nucleotide variant not provided [RCV001616251] Chr16:575670 [GRCh38]
Chr16:625670 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1716C>T (p.Pro572=) single nucleotide variant Epilepsy [RCV001498409] Chr16:583005 [GRCh38]
Chr16:633005 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.33C>T (p.Cys11=) single nucleotide variant Epilepsy [RCV001431109] Chr16:574107 [GRCh38]
Chr16:624107 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.64C>A (p.Arg22=) single nucleotide variant Epilepsy [RCV001486906] Chr16:574138 [GRCh38]
Chr16:624138 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.642G>T (p.Leu214=) single nucleotide variant Epilepsy [RCV001455525] Chr16:574716 [GRCh38]
Chr16:624716 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1224-9G>A single nucleotide variant Epilepsy [RCV001465878] Chr16:579060 [GRCh38]
Chr16:629060 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.951C>G (p.Ala317=) single nucleotide variant Epilepsy [RCV001452026] Chr16:578387 [GRCh38]
Chr16:628387 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1392C>T (p.Ala464=) single nucleotide variant Epilepsy [RCV001402063] Chr16:580239 [GRCh38]
Chr16:630239 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.129C>T (p.Ile43=) single nucleotide variant Epilepsy [RCV001440837] Chr16:574203 [GRCh38]
Chr16:624203 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1635C>T (p.Arg545=) single nucleotide variant Epilepsy [RCV001441443] Chr16:582924 [GRCh38]
Chr16:632924 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.732C>T (p.Leu244=) single nucleotide variant Epilepsy [RCV001502679] Chr16:575881 [GRCh38]
Chr16:625881 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.190G>A (p.Gly64Ser) single nucleotide variant not provided [RCV001770580] Chr16:574264 [GRCh38]
Chr16:624264 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.241del (p.Leu81fs) deletion Developmental and epileptic encephalopathy, 77 [RCV001782630]|Epilepsy [RCV003107851] Chr16:574314 [GRCh38]
Chr16:624314 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_004204.5(PIGQ):c.682G>C (p.Ala228Pro) single nucleotide variant Epilepsy [RCV002032849]|not provided [RCV001767325] Chr16:574756 [GRCh38]
Chr16:624756 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1345G>C (p.Gly449Arg) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV001733884] Chr16:580192 [GRCh38]
Chr16:630192 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_004204.5(PIGQ):c.1036C>G (p.Arg346Gly) single nucleotide variant Epilepsy [RCV003645901]|not provided [RCV001771305] Chr16:578472 [GRCh38]
Chr16:628472 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.376G>A (p.Val126Ile) single nucleotide variant Inborn genetic diseases [RCV004040225]|not provided [RCV001758665] Chr16:574450 [GRCh38]
Chr16:624450 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.754C>T (p.His252Tyr) single nucleotide variant Epilepsy [RCV001874307] Chr16:575903 [GRCh38]
Chr16:625903 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.755A>C (p.His252Pro) single nucleotide variant Epilepsy [RCV001983088] Chr16:575904 [GRCh38]
Chr16:625904 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.819G>A (p.Met273Ile) single nucleotide variant Epilepsy [RCV001896536] Chr16:575968 [GRCh38]
Chr16:625968 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.626C>T (p.Ser209Leu) single nucleotide variant Epilepsy [RCV001913720]|Inborn genetic diseases [RCV002557627] Chr16:574700 [GRCh38]
Chr16:624700 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.902G>C (p.Arg301Pro) single nucleotide variant Epilepsy [RCV002025857] Chr16:576214 [GRCh38]
Chr16:626214 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.601C>T (p.Leu201Phe) single nucleotide variant Epilepsy [RCV002044149] Chr16:574675 [GRCh38]
Chr16:624675 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.91_106del (p.Val31fs) deletion Epilepsy [RCV001874706] Chr16:574163..574178 [GRCh38]
Chr16:624163..624178 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1088C>A (p.Ser363Tyr) single nucleotide variant Epilepsy [RCV001895251]|not provided [RCV002290787] Chr16:578803 [GRCh38]
Chr16:628803 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624589)_(626254_?)del deletion Epilepsy [RCV001949702] Chr16:624589..626254 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.493G>A (p.Val165Ile) single nucleotide variant Epilepsy [RCV002009128] Chr16:574567 [GRCh38]
Chr16:624567 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.942+1G>C single nucleotide variant Epilepsy [RCV001949293] Chr16:576255 [GRCh38]
Chr16:626255 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.335G>C (p.Arg112Pro) single nucleotide variant Epilepsy [RCV001896506] Chr16:574409 [GRCh38]
Chr16:624409 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-754083) copy number loss not specified [RCV002052499] Chr16:85880..754083 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1224-10C>G single nucleotide variant Epilepsy [RCV001863483] Chr16:579059 [GRCh38]
Chr16:629059 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.28T>G (p.Cys10Gly) single nucleotide variant Epilepsy [RCV001891581] Chr16:574102 [GRCh38]
Chr16:624102 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.481G>T (p.Gly161Cys) single nucleotide variant Epilepsy [RCV001894295]|not provided [RCV002243475] Chr16:574555 [GRCh38]
Chr16:624555 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.602T>C (p.Leu201Pro) single nucleotide variant Epilepsy [RCV002005121] Chr16:574676 [GRCh38]
Chr16:624676 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1520A>G (p.Tyr507Cys) single nucleotide variant Epilepsy [RCV002040109] Chr16:580961 [GRCh38]
Chr16:630961 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1146G>A (p.Thr382=) single nucleotide variant Epilepsy [RCV001912670] Chr16:578861 [GRCh38]
Chr16:628861 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.1160T>G (p.Leu387Arg) single nucleotide variant Epilepsy [RCV001985330] Chr16:578875 [GRCh38]
Chr16:628875 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.514A>G (p.Ser172Gly) single nucleotide variant Epilepsy [RCV002042362]|Inborn genetic diseases [RCV004038889] Chr16:574588 [GRCh38]
Chr16:624588 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1327_1335+2del deletion Epilepsy [RCV001966595] Chr16:579172..579182 [GRCh38]
Chr16:629172..629182 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_004204.5(PIGQ):c.578C>T (p.Ser193Leu) single nucleotide variant Epilepsy [RCV001965116] Chr16:574652 [GRCh38]
Chr16:624652 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1468828) copy number loss not specified [RCV002052500] Chr16:85880..1468828 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.662C>T (p.Ser221Leu) single nucleotide variant Epilepsy [RCV001947406]|Inborn genetic diseases [RCV002550400] Chr16:574736 [GRCh38]
Chr16:624736 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1011C>G (p.Asn337Lys) single nucleotide variant Epilepsy [RCV001872747] Chr16:578447 [GRCh38]
Chr16:628447 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.12G>A (p.Lys4=) single nucleotide variant Epilepsy [RCV001912308] Chr16:574086 [GRCh38]
Chr16:624086 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.121A>T (p.Ile41Phe) single nucleotide variant Epilepsy [RCV002043401] Chr16:574195 [GRCh38]
Chr16:624195 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.42G>A (p.Thr14=) single nucleotide variant Epilepsy [RCV001945537] Chr16:574116 [GRCh38]
Chr16:624116 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.847C>G (p.Leu283Val) single nucleotide variant Epilepsy [RCV001967502] Chr16:576159 [GRCh38]
Chr16:626159 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1717del (p.Trp573fs) deletion Epilepsy [RCV001945618] Chr16:583006 [GRCh38]
Chr16:633006 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.559C>T (p.Arg187Trp) single nucleotide variant Epilepsy [RCV001887649] Chr16:574633 [GRCh38]
Chr16:624633 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.733_734del (p.Ser245fs) microsatellite Epilepsy [RCV002037933] Chr16:575879..575880 [GRCh38]
Chr16:625879..625880 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.942+5G>A single nucleotide variant Epilepsy [RCV002034212] Chr16:576259 [GRCh38]
Chr16:626259 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1306G>A (p.Val436Met) single nucleotide variant Epilepsy [RCV001919290] Chr16:579151 [GRCh38]
Chr16:629151 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.865G>C (p.Gly289Arg) single nucleotide variant Epilepsy [RCV001975475] Chr16:576177 [GRCh38]
Chr16:626177 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.333C>A (p.His111Gln) single nucleotide variant Epilepsy [RCV002049596]|Inborn genetic diseases [RCV002545743] Chr16:574407 [GRCh38]
Chr16:624407 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1616G>A (p.Arg539His) single nucleotide variant Epilepsy [RCV001980098] Chr16:582905 [GRCh38]
Chr16:632905 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.842C>G (p.Ser281Cys) single nucleotide variant Epilepsy [RCV001941358] Chr16:576154 [GRCh38]
Chr16:626154 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.212A>G (p.Gln71Arg) single nucleotide variant Epilepsy [RCV002037203] Chr16:574286 [GRCh38]
Chr16:624286 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1024C>T (p.Gln342Ter) single nucleotide variant Epilepsy [RCV001942790] Chr16:578460 [GRCh38]
Chr16:628460 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.215A>T (p.Glu72Val) single nucleotide variant Epilepsy [RCV001944263] Chr16:574289 [GRCh38]
Chr16:624289 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1669T>G (p.Trp557Gly) single nucleotide variant Epilepsy [RCV001888195] Chr16:582958 [GRCh38]
Chr16:632958 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1579C>T (p.Arg527Cys) single nucleotide variant Epilepsy [RCV001888638] Chr16:582295 [GRCh38]
Chr16:632295 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.986G>A (p.Gly329Asp) single nucleotide variant Epilepsy [RCV001906535] Chr16:578422 [GRCh38]
Chr16:628422 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1097T>C (p.Val366Ala) single nucleotide variant Epilepsy [RCV001958413] Chr16:578812 [GRCh38]
Chr16:628812 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.448C>T (p.Arg150Cys) single nucleotide variant Epilepsy [RCV001979428] Chr16:574522 [GRCh38]
Chr16:624522 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1012C>A (p.Arg338Ser) single nucleotide variant Epilepsy [RCV001887021] Chr16:578448 [GRCh38]
Chr16:628448 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.177C>T (p.Gly59=) single nucleotide variant Epilepsy [RCV001887511] Chr16:574251 [GRCh38]
Chr16:624251 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.233G>C (p.Gly78Ala) single nucleotide variant Epilepsy [RCV001962715] Chr16:574307 [GRCh38]
Chr16:624307 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.488C>G (p.Ala163Gly) single nucleotide variant Epilepsy [RCV001942533]|Inborn genetic diseases [RCV002550333] Chr16:574562 [GRCh38]
Chr16:624562 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.12G>T (p.Lys4Asn) single nucleotide variant Epilepsy [RCV001931998] Chr16:574086 [GRCh38]
Chr16:624086 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.340G>A (p.Ala114Thr) single nucleotide variant Epilepsy [RCV001938150] Chr16:574414 [GRCh38]
Chr16:624414 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1244A>G (p.His415Arg) single nucleotide variant Epilepsy [RCV001936896] Chr16:579089 [GRCh38]
Chr16:629089 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.466A>G (p.Thr156Ala) single nucleotide variant Epilepsy [RCV001936933]|Inborn genetic diseases [RCV002562222] Chr16:574540 [GRCh38]
Chr16:624540 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.605C>A (p.Ala202Glu) single nucleotide variant Epilepsy [RCV001937579] Chr16:574679 [GRCh38]
Chr16:624679 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1684del (p.Arg562fs) deletion Epilepsy [RCV002010546] Chr16:582972 [GRCh38]
Chr16:632972 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.943-10G>A single nucleotide variant Epilepsy [RCV001992688]|PIGQ-related disorder [RCV003923386] Chr16:578369 [GRCh38]
Chr16:628369 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.1335+17G>A single nucleotide variant Epilepsy [RCV001903426] Chr16:579197 [GRCh38]
Chr16:629197 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1696C>T (p.Leu566Phe) single nucleotide variant Epilepsy [RCV001974641] Chr16:582985 [GRCh38]
Chr16:632985 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.901C>T (p.Arg301Cys) single nucleotide variant Epilepsy [RCV002012387]|not provided [RCV003389889] Chr16:576213 [GRCh38]
Chr16:626213 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1529C>T (p.Ala510Val) single nucleotide variant Epilepsy [RCV001897632] Chr16:580970 [GRCh38]
Chr16:630970 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.64C>T (p.Arg22Trp) single nucleotide variant Epilepsy [RCV002016095]|Inborn genetic diseases [RCV004956133] Chr16:574138 [GRCh38]
Chr16:624138 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.90C>T (p.Ala30=) single nucleotide variant Epilepsy [RCV001925020] Chr16:574164 [GRCh38]
Chr16:624164 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1531+5G>A single nucleotide variant Epilepsy [RCV001954282] Chr16:580977 [GRCh38]
Chr16:630977 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.293G>A (p.Arg98Gln) single nucleotide variant Epilepsy [RCV001883815] Chr16:574367 [GRCh38]
Chr16:624367 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.209G>A (p.Arg70Gln) single nucleotide variant Epilepsy [RCV001906935] Chr16:574283 [GRCh38]
Chr16:624283 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.502A>T (p.Thr168Ser) single nucleotide variant Epilepsy [RCV001953202] Chr16:574576 [GRCh38]
Chr16:624576 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1616G>T (p.Arg539Leu) single nucleotide variant Epilepsy [RCV002018302] Chr16:582905 [GRCh38]
Chr16:632905 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.746A>G (p.Gln249Arg) single nucleotide variant Epilepsy [RCV001998292] Chr16:575895 [GRCh38]
Chr16:625895 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1154T>C (p.Leu385Pro) single nucleotide variant Epilepsy [RCV001902052] Chr16:578869 [GRCh38]
Chr16:628869 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.629G>T (p.Gly210Val) single nucleotide variant Epilepsy [RCV001982321] Chr16:574703 [GRCh38]
Chr16:624703 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1397A>G (p.Tyr466Cys) single nucleotide variant Epilepsy [RCV001876669] Chr16:580244 [GRCh38]
Chr16:630244 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1069A>G (p.Ser357Gly) single nucleotide variant Epilepsy [RCV001934142] Chr16:578505 [GRCh38]
Chr16:628505 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.566G>A (p.Ser189Asn) single nucleotide variant Epilepsy [RCV001978950] Chr16:574640 [GRCh38]
Chr16:624640 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.234_254del (p.Arg79_Gly85del) deletion Epilepsy [RCV001958004] Chr16:574296..574316 [GRCh38]
Chr16:624296..624316 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.449del (p.Arg150fs) deletion Epilepsy [RCV001953542] Chr16:574523 [GRCh38]
Chr16:624523 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.890A>C (p.His297Pro) single nucleotide variant Epilepsy [RCV001988954] Chr16:576202 [GRCh38]
Chr16:626202 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1511G>A (p.Cys504Tyr) single nucleotide variant Epilepsy [RCV001932992] Chr16:580952 [GRCh38]
Chr16:630952 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1069+17C>T single nucleotide variant Epilepsy [RCV001933151] Chr16:578522 [GRCh38]
Chr16:628522 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.761T>C (p.Leu254Pro) single nucleotide variant Epilepsy [RCV001958195] Chr16:575910 [GRCh38]
Chr16:625910 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.271G>C (p.Glu91Gln) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV004546684]|Epilepsy [RCV001898725] Chr16:574345 [GRCh38]
Chr16:624345 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1564G>T (p.Ala522Ser) single nucleotide variant Epilepsy [RCV001869968] Chr16:582280 [GRCh38]
Chr16:632280 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.551del (p.Gly184fs) deletion Epilepsy [RCV001884226] Chr16:574623 [GRCh38]
Chr16:624623 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.706C>T (p.Pro236Ser) single nucleotide variant Epilepsy [RCV001875663] Chr16:575855 [GRCh38]
Chr16:625855 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.161_174del (p.Gln54fs) deletion Epilepsy [RCV001994558] Chr16:574235..574248 [GRCh38]
Chr16:624235..624248 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.690-3C>A single nucleotide variant Epilepsy [RCV002013011] Chr16:575836 [GRCh38]
Chr16:625836 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.833C>T (p.Thr278Met) single nucleotide variant Epilepsy [RCV002050359]|not provided [RCV004694165] Chr16:576145 [GRCh38]
Chr16:626145 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.76G>C (p.Glu26Gln) single nucleotide variant Epilepsy [RCV001907149] Chr16:574150 [GRCh38]
Chr16:624150 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.532A>C (p.Ser178Arg) single nucleotide variant Epilepsy [RCV001885995] Chr16:574606 [GRCh38]
Chr16:624606 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1549G>A (p.Val517Ile) single nucleotide variant Epilepsy [RCV001885879] Chr16:582265 [GRCh38]
Chr16:632265 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.110A>G (p.His37Arg) single nucleotide variant Epilepsy [RCV001898960] Chr16:574184 [GRCh38]
Chr16:624184 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.325G>A (p.Ala109Thr) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV004728881]|Epilepsy [RCV001877264]|Inborn genetic diseases [RCV004953227] Chr16:574399 [GRCh38]
Chr16:624399 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.1106T>C (p.Ile369Thr) single nucleotide variant Epilepsy [RCV001922730] Chr16:578821 [GRCh38]
Chr16:628821 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1728_1729del (p.Asp578fs) microsatellite Epilepsy [RCV001876623] Chr16:583013..583014 [GRCh38]
Chr16:633013..633014 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1392C>G (p.Ala464=) single nucleotide variant Epilepsy [RCV002014279] Chr16:580239 [GRCh38]
Chr16:630239 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.352C>T (p.Pro118Ser) single nucleotide variant Epilepsy [RCV002027338] Chr16:574426 [GRCh38]
Chr16:624426 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.554C>G (p.Pro185Arg) single nucleotide variant Epilepsy [RCV001992988] Chr16:574628 [GRCh38]
Chr16:624628 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.539G>A (p.Arg180His) single nucleotide variant Epilepsy [RCV001935123] Chr16:574613 [GRCh38]
Chr16:624613 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1435G>A (p.Ala479Thr) single nucleotide variant Epilepsy [RCV001989312] Chr16:580876 [GRCh38]
Chr16:630876 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.707C>T (p.Pro236Leu) single nucleotide variant Epilepsy [RCV001880463]|Inborn genetic diseases [RCV004039590] Chr16:575856 [GRCh38]
Chr16:625856 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1173T>G (p.Ile391Met) single nucleotide variant Epilepsy [RCV001867571]|Inborn genetic diseases [RCV002550421] Chr16:578888 [GRCh38]
Chr16:628888 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.38C>T (p.Ser13Leu) single nucleotide variant Epilepsy [RCV001931846] Chr16:574112 [GRCh38]
Chr16:624112 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.643_644delinsAC (p.Leu215Thr) indel Epilepsy [RCV001901415] Chr16:574717..574718 [GRCh38]
Chr16:624717..624718 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.52_70dup (p.Val24fs) duplication Epilepsy [RCV001935593] Chr16:574122..574123 [GRCh38]
Chr16:624122..624123 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1594-19G>A single nucleotide variant Epilepsy [RCV002109840] Chr16:582864 [GRCh38]
Chr16:632864 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.943-14C>T single nucleotide variant Epilepsy [RCV002185598] Chr16:578365 [GRCh38]
Chr16:628365 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1080C>T (p.His360=) single nucleotide variant Epilepsy [RCV002073657] Chr16:578795 [GRCh38]
Chr16:628795 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.822-16C>T single nucleotide variant Epilepsy [RCV002074581] Chr16:576118 [GRCh38]
Chr16:626118 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1069+18G>A single nucleotide variant Epilepsy [RCV002124461] Chr16:578523 [GRCh38]
Chr16:628523 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1593+17C>G single nucleotide variant Epilepsy [RCV002206378] Chr16:582326 [GRCh38]
Chr16:632326 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1257A>G (p.Ser419=) single nucleotide variant Epilepsy [RCV002209697] Chr16:579102 [GRCh38]
Chr16:629102 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.738G>A (p.Thr246=) single nucleotide variant Epilepsy [RCV002129386] Chr16:575887 [GRCh38]
Chr16:625887 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.354C>T (p.Pro118=) single nucleotide variant Epilepsy [RCV002107997] Chr16:574428 [GRCh38]
Chr16:624428 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1473C>T (p.Ile491=) single nucleotide variant Epilepsy [RCV002148948] Chr16:580914 [GRCh38]
Chr16:630914 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.880T>C (p.Ser294Pro) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV002208763] Chr16:576192 [GRCh38]
Chr16:626192 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.957G>A (p.Glu319=) single nucleotide variant Epilepsy [RCV002189218] Chr16:578393 [GRCh38]
Chr16:628393 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1336-19T>C single nucleotide variant Epilepsy [RCV002109296] Chr16:580164 [GRCh38]
Chr16:630164 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1245T>C (p.His415=) single nucleotide variant Epilepsy [RCV002125515] Chr16:579090 [GRCh38]
Chr16:629090 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1366C>T (p.Leu456=) single nucleotide variant Epilepsy [RCV002167825] Chr16:580213 [GRCh38]
Chr16:630213 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.689+11C>T single nucleotide variant Epilepsy [RCV002106196] Chr16:574774 [GRCh38]
Chr16:624774 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1070-11C>A single nucleotide variant Epilepsy [RCV002105244] Chr16:578774 [GRCh38]
Chr16:628774 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1417-12C>T single nucleotide variant Epilepsy [RCV002196264] Chr16:580846 [GRCh38]
Chr16:630846 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1224-20G>C single nucleotide variant Epilepsy [RCV002091451] Chr16:579049 [GRCh38]
Chr16:629049 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.249C>T (p.Ser83=) single nucleotide variant Epilepsy [RCV002096910] Chr16:574323 [GRCh38]
Chr16:624323 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1437C>G (p.Ala479=) single nucleotide variant Epilepsy [RCV002093919] Chr16:580878 [GRCh38]
Chr16:630878 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.*515C>G single nucleotide variant PIGQ-related disorder [RCV003933695]|not provided [RCV002211320] Chr16:583550 [GRCh38]
Chr16:633550 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1593G>A (p.Gln531=) single nucleotide variant Epilepsy [RCV001944959] Chr16:582309 [GRCh38]
Chr16:632309 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1317T>C (p.Cys439=) single nucleotide variant Epilepsy [RCV002172923] Chr16:579162 [GRCh38]
Chr16:629162 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.862C>T (p.Leu288=) single nucleotide variant Epilepsy [RCV002213186] Chr16:576174 [GRCh38]
Chr16:626174 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.891C>T (p.His297=) single nucleotide variant Epilepsy [RCV002107634] Chr16:576203 [GRCh38]
Chr16:626203 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.309G>A (p.Thr103=) single nucleotide variant Epilepsy [RCV002093493] Chr16:574383 [GRCh38]
Chr16:624383 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.555C>T (p.Pro185=) single nucleotide variant Epilepsy [RCV002094559] Chr16:574629 [GRCh38]
Chr16:624629 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1305C>T (p.Arg435=) single nucleotide variant Epilepsy [RCV002152917] Chr16:579150 [GRCh38]
Chr16:629150 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.408G>A (p.Val136=) single nucleotide variant Epilepsy [RCV002173086] Chr16:574482 [GRCh38]
Chr16:624482 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1224-13C>T single nucleotide variant Epilepsy [RCV002192892] Chr16:579056 [GRCh38]
Chr16:629056 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1359C>T (p.Phe453=) single nucleotide variant Epilepsy [RCV002094725] Chr16:580206 [GRCh38]
Chr16:630206 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.606G>A (p.Ala202=) single nucleotide variant Epilepsy [RCV002114698] Chr16:574680 [GRCh38]
Chr16:624680 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1070-14C>T single nucleotide variant Epilepsy [RCV002187740] Chr16:578771 [GRCh38]
Chr16:628771 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1281G>A (p.Lys427=) single nucleotide variant Epilepsy [RCV002110216] Chr16:579126 [GRCh38]
Chr16:629126 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1070-13C>T single nucleotide variant Epilepsy [RCV002153131] Chr16:578772 [GRCh38]
Chr16:628772 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.689+16C>T single nucleotide variant Epilepsy [RCV002150760] Chr16:574779 [GRCh38]
Chr16:624779 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1223+11G>T single nucleotide variant Epilepsy [RCV002171536] Chr16:578949 [GRCh38]
Chr16:628949 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1335+16C>T single nucleotide variant Epilepsy [RCV002185587] Chr16:579196 [GRCh38]
Chr16:629196 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.444C>T (p.Pro148=) single nucleotide variant Epilepsy [RCV002113281] Chr16:574518 [GRCh38]
Chr16:624518 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.943-14_943-13del deletion Epilepsy [RCV002114392] Chr16:578365..578366 [GRCh38]
Chr16:628365..628366 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1069+15G>A single nucleotide variant Epilepsy [RCV002138908] Chr16:578520 [GRCh38]
Chr16:628520 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.640C>T (p.Leu214=) single nucleotide variant Epilepsy [RCV002178923] Chr16:574714 [GRCh38]
Chr16:624714 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1593+7C>T single nucleotide variant Epilepsy [RCV002138575] Chr16:582316 [GRCh38]
Chr16:632316 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1560C>T (p.His520=) single nucleotide variant Epilepsy [RCV002082989] Chr16:582276 [GRCh38]
Chr16:632276 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.684C>T (p.Ala228=) single nucleotide variant Epilepsy [RCV002144387] Chr16:574758 [GRCh38]
Chr16:624758 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1336-11C>G single nucleotide variant Epilepsy [RCV002216735]|not provided [RCV004715591] Chr16:580172 [GRCh38]
Chr16:630172 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.525C>T (p.Leu175=) single nucleotide variant Epilepsy [RCV002098783] Chr16:574599 [GRCh38]
Chr16:624599 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.689+12G>A single nucleotide variant Epilepsy [RCV002164154] Chr16:574775 [GRCh38]
Chr16:624775 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1336-12C>G single nucleotide variant Epilepsy [RCV002099175] Chr16:580171 [GRCh38]
Chr16:630171 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1594-20C>T single nucleotide variant Epilepsy [RCV002099489] Chr16:582863 [GRCh38]
Chr16:632863 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.219C>G (p.Pro73=) single nucleotide variant Epilepsy [RCV002103064] Chr16:574293 [GRCh38]
Chr16:624293 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.658C>T (p.Leu220=) single nucleotide variant Epilepsy [RCV002119650] Chr16:574732 [GRCh38]
Chr16:624732 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1416+8G>A single nucleotide variant Epilepsy [RCV002158090] Chr16:580271 [GRCh38]
Chr16:630271 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1531+14A>G single nucleotide variant Epilepsy [RCV002119483] Chr16:580986 [GRCh38]
Chr16:630986 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1070-15A>G single nucleotide variant Epilepsy [RCV002203036] Chr16:578770 [GRCh38]
Chr16:628770 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1149G>C (p.Val383=) single nucleotide variant Epilepsy [RCV002197901] Chr16:578864 [GRCh38]
Chr16:628864 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1070-9C>T single nucleotide variant Epilepsy [RCV002180819] Chr16:578776 [GRCh38]
Chr16:628776 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.21C>T (p.Phe7=) single nucleotide variant Epilepsy [RCV002120030] Chr16:574095 [GRCh38]
Chr16:624095 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1668C>T (p.Ser556=) single nucleotide variant Epilepsy [RCV002162176] Chr16:582957 [GRCh38]
Chr16:632957 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1434C>T (p.Val478=) single nucleotide variant Epilepsy [RCV002156693] Chr16:580875 [GRCh38]
Chr16:630875 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.690-18C>A single nucleotide variant Epilepsy [RCV002098542] Chr16:575821 [GRCh38]
Chr16:625821 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1611C>T (p.Tyr537=) single nucleotide variant Epilepsy [RCV002143833] Chr16:582900 [GRCh38]
Chr16:632900 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.612G>A (p.Leu204=) single nucleotide variant Epilepsy [RCV002120413] Chr16:574686 [GRCh38]
Chr16:624686 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1012C>G (p.Arg338Gly) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV002204534]|Epilepsy [RCV003101219] Chr16:578448 [GRCh38]
Chr16:628448 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1167G>T (p.Ser389=) single nucleotide variant Epilepsy [RCV002099258] Chr16:578882 [GRCh38]
Chr16:628882 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1531+11C>T single nucleotide variant Epilepsy [RCV002155535]|not provided [RCV004715612] Chr16:580983 [GRCh38]
Chr16:630983 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.1101G>A (p.Glu367=) single nucleotide variant Epilepsy [RCV002101554] Chr16:578816 [GRCh38]
Chr16:628816 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1393C>T (p.Leu465=) single nucleotide variant Epilepsy [RCV002184692] Chr16:580240 [GRCh38]
Chr16:630240 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1843653_?)del deletion Idiopathic generalized epilepsy [RCV003109815] Chr16:256302..1843653 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_289853)_(626274_?)dup duplication Epilepsy [RCV003113400] Chr16:289853..626274 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_622268)_(632290_?)del deletion Epilepsy [RCV003113401] Chr16:622268..632290 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_256302)_(633035_?)del deletion Epilepsy [RCV003113402] Chr16:256302..633035 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_256302)_(1657267_?)del deletion Saldino-Mainzer syndrome [RCV003116765]|not provided [RCV003116766] Chr16:256302..1657267 [GRCh37]
Chr16:16p13.3		 pathogenic|no classifications from unflagged records
NC_000016.9:g.(?_256302)_(1918176_?)del deletion not provided [RCV003119703] Chr16:256302..1918176 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1429G>A (p.Val477Met) single nucleotide variant Epilepsy [RCV003120082] Chr16:580870 [GRCh38]
Chr16:630870 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.734C>T (p.Ser245Phe) single nucleotide variant Epilepsy [RCV002296903] Chr16:575883 [GRCh38]
Chr16:625883 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1184T>A (p.Leu395His) single nucleotide variant not provided [RCV002290938] Chr16:578899 [GRCh38]
Chr16:628899 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.517G>C (p.Glu173Gln) single nucleotide variant Epilepsy [RCV002297542] Chr16:574591 [GRCh38]
Chr16:624591 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85881-1350186)x1 copy number loss not provided [RCV002474576] Chr16:85881..1350186 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.227G>T (p.Ser76Ile) single nucleotide variant Epilepsy [RCV002304581] Chr16:574301 [GRCh38]
Chr16:624301 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1139G>A (p.Gly380Asp) single nucleotide variant Epilepsy [RCV002295768] Chr16:578854 [GRCh38]
Chr16:628854 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1127C>T (p.Ser376Leu) single nucleotide variant Epilepsy [RCV002615807] Chr16:578842 [GRCh38]
Chr16:628842 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1509C>T (p.Leu503=) single nucleotide variant Epilepsy [RCV002616430] Chr16:580950 [GRCh38]
Chr16:630950 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.734C>G (p.Ser245Cys) single nucleotide variant Epilepsy [RCV003032874] Chr16:575883 [GRCh38]
Chr16:625883 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1453C>T (p.His485Tyr) single nucleotide variant Epilepsy [RCV002731136] Chr16:580894 [GRCh38]
Chr16:630894 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.241C>T (p.Leu81=) single nucleotide variant Epilepsy [RCV002615430] Chr16:574315 [GRCh38]
Chr16:624315 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1736A>G (p.Lys579Arg) single nucleotide variant Epilepsy [RCV002843205] Chr16:583025 [GRCh38]
Chr16:633025 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1213T>C (p.Tyr405His) single nucleotide variant Epilepsy [RCV002975570] Chr16:578928 [GRCh38]
Chr16:628928 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1639C>A (p.Pro547Thr) single nucleotide variant Epilepsy [RCV002843702] Chr16:582928 [GRCh38]
Chr16:632928 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.*351C>T single nucleotide variant Inborn genetic diseases [RCV002997556] Chr16:583386 [GRCh38]
Chr16:633386 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.924C>T (p.Ala308=) single nucleotide variant Epilepsy [RCV002819534] Chr16:576236 [GRCh38]
Chr16:626236 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.90C>G (p.Ala30=) single nucleotide variant Epilepsy [RCV002819800] Chr16:574164 [GRCh38]
Chr16:624164 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1336-4A>T single nucleotide variant Epilepsy [RCV003075071] Chr16:580179 [GRCh38]
Chr16:630179 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1594-7C>T single nucleotide variant Epilepsy [RCV002751453] Chr16:582876 [GRCh38]
Chr16:632876 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.272_273delinsTT (p.Glu91Val) indel Epilepsy [RCV003012030] Chr16:574346..574347 [GRCh38]
Chr16:624346..624347 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1685G>T (p.Arg562Leu) single nucleotide variant Epilepsy [RCV003016032] Chr16:582974 [GRCh38]
Chr16:632974 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1684C>T (p.Arg562Cys) single nucleotide variant Epilepsy [RCV003075285] Chr16:582973 [GRCh38]
Chr16:632973 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.470C>G (p.Ala157Gly) single nucleotide variant Inborn genetic diseases [RCV002727813] Chr16:574544 [GRCh38]
Chr16:624544 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.386T>C (p.Ile129Thr) single nucleotide variant Inborn genetic diseases [RCV002879520] Chr16:574460 [GRCh38]
Chr16:624460 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.689+14G>A single nucleotide variant Epilepsy [RCV003074445] Chr16:574777 [GRCh38]
Chr16:624777 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.606G>T (p.Ala202=) single nucleotide variant Epilepsy [RCV002755279] Chr16:574680 [GRCh38]
Chr16:624680 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.889C>T (p.His297Tyr) single nucleotide variant Inborn genetic diseases [RCV002793449] Chr16:576201 [GRCh38]
Chr16:626201 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1571G>C (p.Arg524Thr) single nucleotide variant Epilepsy [RCV003032536] Chr16:582287 [GRCh38]
Chr16:632287 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.689+18G>A single nucleotide variant Epilepsy [RCV002776535] Chr16:574781 [GRCh38]
Chr16:624781 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.292C>T (p.Arg98Trp) single nucleotide variant Inborn genetic diseases [RCV002981059] Chr16:574366 [GRCh38]
Chr16:624366 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1487T>A (p.Leu496Gln) single nucleotide variant Epilepsy [RCV002740300] Chr16:580928 [GRCh38]
Chr16:630928 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1683C>T (p.Cys561=) single nucleotide variant Epilepsy [RCV002886158] Chr16:582972 [GRCh38]
Chr16:632972 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1223+3G>A single nucleotide variant Epilepsy [RCV002785506] Chr16:578941 [GRCh38]
Chr16:628941 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.100G>C (p.Ala34Pro) single nucleotide variant Epilepsy [RCV002927581] Chr16:574174 [GRCh38]
Chr16:624174 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.616A>T (p.Arg206Trp) single nucleotide variant Epilepsy [RCV002999401]|Inborn genetic diseases [RCV003377828] Chr16:574690 [GRCh38]
Chr16:624690 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1511G>T (p.Cys504Phe) single nucleotide variant Inborn genetic diseases [RCV002950305] Chr16:580952 [GRCh38]
Chr16:630952 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.156G>A (p.Val52=) single nucleotide variant Epilepsy [RCV002705266] Chr16:574230 [GRCh38]
Chr16:624230 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1072T>C (p.Tyr358His) single nucleotide variant Epilepsy [RCV002914401] Chr16:578787 [GRCh38]
Chr16:628787 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.909del (p.His304fs) deletion Epilepsy [RCV003055493] Chr16:576219 [GRCh38]
Chr16:626219 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.690-17_690-13del deletion Epilepsy [RCV003081478] Chr16:575818..575822 [GRCh38]
Chr16:625818..625822 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1007T>G (p.Met336Arg) single nucleotide variant Epilepsy [RCV003080277] Chr16:578443 [GRCh38]
Chr16:628443 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.822-8C>A single nucleotide variant Epilepsy [RCV002571749] Chr16:576126 [GRCh38]
Chr16:626126 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.865G>A (p.Gly289Ser) single nucleotide variant Epilepsy [RCV002761604]|Inborn genetic diseases [RCV003167727] Chr16:576177 [GRCh38]
Chr16:626177 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1260G>T (p.Leu420=) single nucleotide variant Epilepsy [RCV002847123] Chr16:579105 [GRCh38]
Chr16:629105 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.821+11G>T single nucleotide variant Epilepsy [RCV002796225] Chr16:575981 [GRCh38]
Chr16:625981 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.474C>T (p.Ser158=) single nucleotide variant Epilepsy [RCV002886246] Chr16:574548 [GRCh38]
Chr16:624548 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.418C>T (p.Gln140Ter) single nucleotide variant Epilepsy [RCV002948386] Chr16:574492 [GRCh38]
Chr16:624492 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1690C>G (p.Leu564Val) single nucleotide variant Epilepsy [RCV003019953] Chr16:582979 [GRCh38]
Chr16:632979 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1388C>T (p.Thr463Ile) single nucleotide variant Epilepsy [RCV003053653] Chr16:580235 [GRCh38]
Chr16:630235 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.520G>A (p.Val174Met) single nucleotide variant Epilepsy [RCV002637810] Chr16:574594 [GRCh38]
Chr16:624594 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1547G>C (p.Arg516Pro) single nucleotide variant Epilepsy [RCV002592094] Chr16:582263 [GRCh38]
Chr16:632263 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.283C>T (p.Arg95Trp) single nucleotide variant Epilepsy [RCV002885555] Chr16:574357 [GRCh38]
Chr16:624357 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.227G>A (p.Ser76Asn) single nucleotide variant Epilepsy [RCV003080037] Chr16:574301 [GRCh38]
Chr16:624301 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.952G>A (p.Glu318Lys) single nucleotide variant Epilepsy [RCV003002272] Chr16:578388 [GRCh38]
Chr16:628388 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.710T>C (p.Leu237Pro) single nucleotide variant Epilepsy [RCV003037849] Chr16:575859 [GRCh38]
Chr16:625859 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1269G>C (p.Leu423=) single nucleotide variant Epilepsy [RCV002927125] Chr16:579114 [GRCh38]
Chr16:629114 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1015G>A (p.Ala339Thr) single nucleotide variant Epilepsy [RCV002706411] Chr16:578451 [GRCh38]
Chr16:628451 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1239G>A (p.Lys413=) single nucleotide variant Epilepsy [RCV003037202] Chr16:579084 [GRCh38]
Chr16:629084 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.386TCT[1] (p.Phe130del) microsatellite Epilepsy [RCV002761456] Chr16:574460..574462 [GRCh38]
Chr16:624460..624462 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.511C>T (p.Arg171Cys) single nucleotide variant Epilepsy [RCV002619360] Chr16:574585 [GRCh38]
Chr16:624585 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.610C>T (p.Leu204=) single nucleotide variant Epilepsy [RCV002885650] Chr16:574684 [GRCh38]
Chr16:624684 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1069+13C>G single nucleotide variant Epilepsy [RCV002885032] Chr16:578518 [GRCh38]
Chr16:628518 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1623G>A (p.Val541=) single nucleotide variant Epilepsy [RCV003077961] Chr16:582912 [GRCh38]
Chr16:632912 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1326C>T (p.Asp442=) single nucleotide variant Epilepsy [RCV003085163] Chr16:579171 [GRCh38]
Chr16:629171 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.791G>A (p.Arg264Gln) single nucleotide variant Epilepsy [RCV002624005]|Inborn genetic diseases [RCV004961133] Chr16:575940 [GRCh38]
Chr16:625940 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.86G>A (p.Ser29Asn) single nucleotide variant Epilepsy [RCV002745352] Chr16:574160 [GRCh38]
Chr16:624160 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.68G>A (p.Trp23Ter) single nucleotide variant Epilepsy [RCV002791062] Chr16:574142 [GRCh38]
Chr16:624142 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1407G>A (p.Val469=) single nucleotide variant Epilepsy [RCV002642209] Chr16:580254 [GRCh38]
Chr16:630254 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.822-20G>A single nucleotide variant Epilepsy [RCV003005464] Chr16:576114 [GRCh38]
Chr16:626114 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.271G>A (p.Glu91Lys) single nucleotide variant Epilepsy [RCV002644395] Chr16:574345 [GRCh38]
Chr16:624345 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.852G>A (p.Leu284=) single nucleotide variant Epilepsy [RCV002829059] Chr16:576164 [GRCh38]
Chr16:626164 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.210G>A (p.Arg70=) single nucleotide variant Epilepsy [RCV002958317] Chr16:574284 [GRCh38]
Chr16:624284 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1380G>T (p.Leu460=) single nucleotide variant Epilepsy [RCV002932639] Chr16:580227 [GRCh38]
Chr16:630227 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.627G>A (p.Ser209=) single nucleotide variant Epilepsy [RCV003082008] Chr16:574701 [GRCh38]
Chr16:624701 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.625T>G (p.Ser209Ala) single nucleotide variant Epilepsy [RCV002624198] Chr16:574699 [GRCh38]
Chr16:624699 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.499G>C (p.Asp167His) single nucleotide variant Epilepsy [RCV003042020] Chr16:574573 [GRCh38]
Chr16:624573 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.700C>T (p.Leu234Phe) single nucleotide variant Epilepsy [RCV003081997] Chr16:575849 [GRCh38]
Chr16:625849 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1529C>A (p.Ala510Glu) single nucleotide variant Epilepsy [RCV003083158]|Inborn genetic diseases [RCV004654136] Chr16:580970 [GRCh38]
Chr16:630970 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.585C>T (p.Gly195=) single nucleotide variant Epilepsy [RCV002917984] Chr16:574659 [GRCh38]
Chr16:624659 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.773C>T (p.Thr258Met) single nucleotide variant Inborn genetic diseases [RCV002916733] Chr16:575922 [GRCh38]
Chr16:625922 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1566C>T (p.Ala522=) single nucleotide variant Epilepsy [RCV002595317] Chr16:582282 [GRCh38]
Chr16:632282 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1594-13C>T single nucleotide variant Epilepsy [RCV003005807] Chr16:582870 [GRCh38]
Chr16:632870 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.124C>G (p.Pro42Ala) single nucleotide variant Epilepsy [RCV003056333] Chr16:574198 [GRCh38]
Chr16:624198 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.942C>T (p.Asp314=) single nucleotide variant Epilepsy [RCV002625010] Chr16:576254 [GRCh38]
Chr16:626254 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1536C>T (p.Gly512=) single nucleotide variant Epilepsy [RCV003007183] Chr16:582252 [GRCh38]
Chr16:632252 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1636C>T (p.Leu546Phe) single nucleotide variant Epilepsy [RCV002596297] Chr16:582925 [GRCh38]
Chr16:632925 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1512C>T (p.Cys504=) single nucleotide variant Epilepsy [RCV003025754] Chr16:580953 [GRCh38]
Chr16:630953 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.751C>A (p.Arg251=) single nucleotide variant Epilepsy [RCV002594229] Chr16:575900 [GRCh38]
Chr16:625900 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.284G>A (p.Arg95Gln) single nucleotide variant Epilepsy [RCV002574568] Chr16:574358 [GRCh38]
Chr16:624358 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.892G>T (p.Gly298Trp) single nucleotide variant Epilepsy [RCV002766001] Chr16:576204 [GRCh38]
Chr16:626204 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1593+12T>G single nucleotide variant Epilepsy [RCV003084881] Chr16:582321 [GRCh38]
Chr16:632321 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1417C>G (p.Leu473Val) single nucleotide variant Epilepsy [RCV002624773] Chr16:580858 [GRCh38]
Chr16:630858 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.*379G>A single nucleotide variant Inborn genetic diseases [RCV002986032]|not provided [RCV003542465] Chr16:583414 [GRCh38]
Chr16:633414 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.804C>A (p.Asn268Lys) single nucleotide variant Epilepsy [RCV003084331]|Inborn genetic diseases [RCV003089934] Chr16:575953 [GRCh38]
Chr16:625953 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.849G>A (p.Leu283=) single nucleotide variant Epilepsy [RCV002790780] Chr16:576161 [GRCh38]
Chr16:626161 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1594-8C>T single nucleotide variant Epilepsy [RCV002800638] Chr16:582875 [GRCh38]
Chr16:632875 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1178C>T (p.Ala393Val) single nucleotide variant Epilepsy [RCV002953911] Chr16:578893 [GRCh38]
Chr16:628893 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1026G>A (p.Gln342=) single nucleotide variant Epilepsy [RCV003055859] Chr16:578462 [GRCh38]
Chr16:628462 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1324G>A (p.Asp442Asn) single nucleotide variant Epilepsy [RCV003049153] Chr16:579169 [GRCh38]
Chr16:629169 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.921C>T (p.Asp307=) single nucleotide variant Epilepsy [RCV002900209] Chr16:576233 [GRCh38]
Chr16:626233 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1621G>A (p.Val541Met) single nucleotide variant Epilepsy [RCV002627803] Chr16:582910 [GRCh38]
Chr16:632910 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1002C>A (p.Leu334=) single nucleotide variant Epilepsy [RCV003061572] Chr16:578438 [GRCh38]
Chr16:628438 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.741C>G (p.Cys247Trp) single nucleotide variant Epilepsy [RCV002834943] Chr16:575890 [GRCh38]
Chr16:625890 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1290C>T (p.Asn430=) single nucleotide variant Epilepsy [RCV002628913] Chr16:579135 [GRCh38]
Chr16:629135 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.*508C>T single nucleotide variant Inborn genetic diseases [RCV002668645] Chr16:583543 [GRCh38]
Chr16:633543 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1521C>G (p.Tyr507Ter) single nucleotide variant Epilepsy [RCV003046658] Chr16:580962 [GRCh38]
Chr16:630962 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.642G>A (p.Leu214=) single nucleotide variant Epilepsy [RCV003086367] Chr16:574716 [GRCh38]
Chr16:624716 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1532-5T>C single nucleotide variant Epilepsy [RCV003045780] Chr16:582243 [GRCh38]
Chr16:632243 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.399G>C (p.Gln133His) single nucleotide variant Epilepsy [RCV003046076] Chr16:574473 [GRCh38]
Chr16:624473 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.352C>G (p.Pro118Ala) single nucleotide variant Inborn genetic diseases [RCV002809643] Chr16:574426 [GRCh38]
Chr16:624426 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.*133C>T single nucleotide variant Inborn genetic diseases [RCV002747886] Chr16:583168 [GRCh38]
Chr16:633168 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1723C>T (p.Gln575Ter) single nucleotide variant Epilepsy [RCV002933556] Chr16:583012 [GRCh38]
Chr16:633012 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1495C>T (p.Leu499=) single nucleotide variant Epilepsy [RCV002579103] Chr16:580936 [GRCh38]
Chr16:630936 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1406T>C (p.Val469Ala) single nucleotide variant Epilepsy [RCV003087724] Chr16:580253 [GRCh38]
Chr16:630253 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.435C>T (p.Thr145=) single nucleotide variant Epilepsy [RCV002599749] Chr16:574509 [GRCh38]
Chr16:624509 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1224-20G>A single nucleotide variant Epilepsy [RCV002647916] Chr16:579049 [GRCh38]
Chr16:629049 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1210G>T (p.Val404Phe) single nucleotide variant Epilepsy [RCV003047138] Chr16:578925 [GRCh38]
Chr16:628925 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.687C>T (p.Cys229=) single nucleotide variant Epilepsy [RCV003009772] Chr16:574761 [GRCh38]
Chr16:624761 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.*117C>G single nucleotide variant Inborn genetic diseases [RCV002747972]|not provided [RCV004572817] Chr16:583152 [GRCh38]
Chr16:633152 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.572G>A (p.Trp191Ter) single nucleotide variant Inborn genetic diseases [RCV002855222] Chr16:574646 [GRCh38]
Chr16:624646 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1224-16G>A single nucleotide variant Epilepsy [RCV003087376] Chr16:579053 [GRCh38]
Chr16:629053 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.303C>T (p.Gly101=) single nucleotide variant Epilepsy [RCV003061435] Chr16:574377 [GRCh38]
Chr16:624377 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.745C>A (p.Gln249Lys) single nucleotide variant Inborn genetic diseases [RCV002648418] Chr16:575894 [GRCh38]
Chr16:625894 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1457T>G (p.Leu486Arg) single nucleotide variant Epilepsy [RCV003065687] Chr16:580898 [GRCh38]
Chr16:630898 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.125C>T (p.Pro42Leu) single nucleotide variant Epilepsy [RCV003091132] Chr16:574199 [GRCh38]
Chr16:624199 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.*303C>T single nucleotide variant Inborn genetic diseases [RCV002677566] Chr16:583338 [GRCh38]
Chr16:633338 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1A>C (p.Met1Leu) single nucleotide variant Epilepsy [RCV003092915] Chr16:574075 [GRCh38]
Chr16:624075 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.817A>G (p.Met273Val) single nucleotide variant Epilepsy [RCV003066810] Chr16:575966 [GRCh38]
Chr16:625966 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.*487C>A single nucleotide variant Inborn genetic diseases [RCV002657240]|not provided [RCV003389923] Chr16:583522 [GRCh38]
Chr16:633522 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.882C>T (p.Ser294=) single nucleotide variant Epilepsy [RCV002603350] Chr16:576194 [GRCh38]
Chr16:626194 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1133G>C (p.Cys378Ser) single nucleotide variant Epilepsy [RCV002654341] Chr16:578848 [GRCh38]
Chr16:628848 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.688C>G (p.Arg230Gly) single nucleotide variant Epilepsy [RCV003052594] Chr16:574762 [GRCh38]
Chr16:624762 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.40_41inv (p.Thr14Val) inversion Epilepsy [RCV002610103] Chr16:574114..574115 [GRCh38]
Chr16:624114..624115 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.101C>T (p.Ala34Val) single nucleotide variant Epilepsy [RCV003093376] Chr16:574175 [GRCh38]
Chr16:624175 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.254dup (p.Ala86fs) duplication Epilepsy [RCV002943760] Chr16:574325..574326 [GRCh38]
Chr16:624325..624326 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.637T>C (p.Cys213Arg) single nucleotide variant Epilepsy [RCV002585330] Chr16:574711 [GRCh38]
Chr16:624711 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.234C>T (p.Gly78=) single nucleotide variant Epilepsy [RCV002604773] Chr16:574308 [GRCh38]
Chr16:624308 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1075_1085del (p.Ile359fs) deletion Developmental and epileptic encephalopathy, 77 [RCV003131962] Chr16:578790..578800 [GRCh38]
Chr16:628790..628800 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1556G>C (p.Arg519Pro) single nucleotide variant Developmental and epileptic encephalopathy, 77 [RCV003131963] Chr16:582272 [GRCh38]
Chr16:632272 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1673del (p.Gly558fs) deletion Developmental and epileptic encephalopathy, 77 [RCV003142677] Chr16:582959 [GRCh38]
Chr16:632959 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1479C>T (p.Ser493=) single nucleotide variant Epilepsy [RCV003530318]|not provided [RCV003395118] Chr16:580920 [GRCh38]
Chr16:630920 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.*203C>T single nucleotide variant PIGQ-related disorder [RCV003929065]|not provided [RCV003395120] Chr16:583238 [GRCh38]
Chr16:633238 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.*339C>T single nucleotide variant not provided [RCV003395121] Chr16:583374 [GRCh38]
Chr16:633374 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.645G>T (p.Leu215=) single nucleotide variant Epilepsy [RCV003874124] Chr16:574719 [GRCh38]
Chr16:624719 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.689+13G>A single nucleotide variant Epilepsy [RCV003873585] Chr16:574776 [GRCh38]
Chr16:624776 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:85881-1657611)x1 copy number loss not provided [RCV003483253] Chr16:85881..1657611 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.436G>A (p.Val146Ile) single nucleotide variant not provided [RCV003390589] Chr16:574510 [GRCh38]
Chr16:624510 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.*104G>A single nucleotide variant not provided [RCV003395119] Chr16:583139 [GRCh38]
Chr16:633139 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1714C>T (p.Pro572Ser) single nucleotide variant not provided [RCV003390590] Chr16:583003 [GRCh38]
Chr16:633003 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.*533C>T single nucleotide variant not provided [RCV003390591] Chr16:583568 [GRCh38]
Chr16:633568 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.821+58A>G single nucleotide variant not provided [RCV003395117] Chr16:576028 [GRCh38]
Chr16:626028 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.*340G>A single nucleotide variant not provided [RCV003395122] Chr16:583375 [GRCh38]
Chr16:633375 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1215T>G (p.Tyr405Ter) single nucleotide variant PIGQ-related disorder [RCV003412383] Chr16:578930 [GRCh38]
Chr16:628930 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_004204.5(PIGQ):c.1425C>T (p.Leu475=) single nucleotide variant Epilepsy [RCV003530576] Chr16:580866 [GRCh38]
Chr16:630866 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1417-12C>A single nucleotide variant Epilepsy [RCV003530438] Chr16:580846 [GRCh38]
Chr16:630846 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1062G>A (p.Leu354=) single nucleotide variant Epilepsy [RCV003530857] Chr16:578498 [GRCh38]
Chr16:628498 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1176C>T (p.Ile392=) single nucleotide variant Epilepsy [RCV003530978] Chr16:578891 [GRCh38]
Chr16:628891 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.195C>A (p.Thr65=) single nucleotide variant Epilepsy [RCV003530866] Chr16:574269 [GRCh38]
Chr16:624269 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.689+8T>C single nucleotide variant Epilepsy [RCV003530731] Chr16:574771 [GRCh38]
Chr16:624771 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.943-15C>T single nucleotide variant Epilepsy [RCV003530490] Chr16:578364 [GRCh38]
Chr16:628364 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1182C>T (p.Leu394=) single nucleotide variant Epilepsy [RCV003530771] Chr16:578897 [GRCh38]
Chr16:628897 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.48C>T (p.Ser16=) single nucleotide variant Epilepsy [RCV003530670] Chr16:574122 [GRCh38]
Chr16:624122 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.753G>C (p.Arg251=) single nucleotide variant Epilepsy [RCV003530677] Chr16:575902 [GRCh38]
Chr16:625902 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.321C>T (p.Cys107=) single nucleotide variant Epilepsy [RCV003530678] Chr16:574395 [GRCh38]
Chr16:624395 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1185C>T (p.Leu395=) single nucleotide variant Epilepsy [RCV003530692] Chr16:578900 [GRCh38]
Chr16:628900 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1434C>G (p.Val478=) single nucleotide variant Epilepsy [RCV003646152] Chr16:580875 [GRCh38]
Chr16:630875 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1069+22del deletion Epilepsy [RCV003646785] Chr16:578523 [GRCh38]
Chr16:628523 [GRCh37]
Chr16:16p13.3		 benign
NM_004204.5(PIGQ):c.477G>T (p.Thr159=) single nucleotide variant Epilepsy [RCV003881082] Chr16:574551 [GRCh38]
Chr16:624551 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.444C>G (p.Pro148=) single nucleotide variant Epilepsy [RCV003646367] Chr16:574518 [GRCh38]
Chr16:624518 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1071C>G (p.Ser357Arg) single nucleotide variant Epilepsy [RCV003646629] Chr16:578786 [GRCh38]
Chr16:628786 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.834G>A (p.Thr278=) single nucleotide variant Epilepsy [RCV003647220] Chr16:576146 [GRCh38]
Chr16:626146 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.906C>T (p.Ile302=) single nucleotide variant Epilepsy [RCV003647239] Chr16:576218 [GRCh38]
Chr16:626218 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1680G>A (p.Leu560=) single nucleotide variant Epilepsy [RCV003646547] Chr16:582969 [GRCh38]
Chr16:632969 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1713C>T (p.Tyr571=) single nucleotide variant Epilepsy [RCV003646469] Chr16:583002 [GRCh38]
Chr16:633002 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1491C>T (p.Tyr497=) single nucleotide variant Epilepsy [RCV003647136] Chr16:580932 [GRCh38]
Chr16:630932 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1557G>A (p.Arg519=) single nucleotide variant Epilepsy [RCV003647175] Chr16:582273 [GRCh38]
Chr16:632273 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1335+12G>A single nucleotide variant Epilepsy [RCV003530398] Chr16:579192 [GRCh38]
Chr16:629192 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.780C>T (p.Ile260=) single nucleotide variant Epilepsy [RCV003646167] Chr16:575929 [GRCh38]
Chr16:625929 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1069+16G>C single nucleotide variant Epilepsy [RCV003646896] Chr16:578521 [GRCh38]
Chr16:628521 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1223+7G>T single nucleotide variant Epilepsy [RCV003646932] Chr16:578945 [GRCh38]
Chr16:628945 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.286C>T (p.Leu96=) single nucleotide variant Epilepsy [RCV003646981] Chr16:574360 [GRCh38]
Chr16:624360 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.967C>T (p.Leu323=) single nucleotide variant Epilepsy [RCV003646378] Chr16:578403 [GRCh38]
Chr16:628403 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.690-20T>C single nucleotide variant Epilepsy [RCV003646973] Chr16:575819 [GRCh38]
Chr16:625819 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1521C>T (p.Tyr507=) single nucleotide variant Epilepsy [RCV003530352] Chr16:580962 [GRCh38]
Chr16:630962 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.223G>T (p.Glu75Ter) single nucleotide variant Epilepsy [RCV003646427] Chr16:574297 [GRCh38]
Chr16:624297 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1692G>A (p.Leu564=) single nucleotide variant Epilepsy [RCV003647005]|Inborn genetic diseases [RCV004953465] Chr16:582981 [GRCh38]
Chr16:632981 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_004204.5(PIGQ):c.573G>A (p.Trp191Ter) single nucleotide variant Epilepsy [RCV003647022] Chr16:574647 [GRCh38]
Chr16:624647 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1674C>A (p.Gly558=) single nucleotide variant Epilepsy [RCV003646357] Chr16:582963 [GRCh38]
Chr16:632963 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.774G>A (p.Thr258=) single nucleotide variant Epilepsy [RCV003647112] Chr16:575923 [GRCh38]
Chr16:625923 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.690-12A>G single nucleotide variant Epilepsy [RCV003646523] Chr16:575827 [GRCh38]
Chr16:625827 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1069+16G>T single nucleotide variant Epilepsy [RCV003646577] Chr16:578521 [GRCh38]
Chr16:628521 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1029G>C (p.Val343=) single nucleotide variant Epilepsy [RCV003646630] Chr16:578465 [GRCh38]
Chr16:628465 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.822-11C>T single nucleotide variant Epilepsy [RCV003646856] Chr16:576123 [GRCh38]
Chr16:626123 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.159G>A (p.Arg53=) single nucleotide variant Epilepsy [RCV003646163] Chr16:574233 [GRCh38]
Chr16:624233 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1531+12G>A single nucleotide variant Epilepsy [RCV003646907] Chr16:580984 [GRCh38]
Chr16:630984 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.774G>T (p.Thr258=) single nucleotide variant Epilepsy [RCV003646282] Chr16:575923 [GRCh38]
Chr16:625923 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.105C>T (p.Val35=) single nucleotide variant Epilepsy [RCV003646213] Chr16:574179 [GRCh38]
Chr16:624179 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1336-20G>A single nucleotide variant Epilepsy [RCV003879718] Chr16:580163 [GRCh38]
Chr16:630163 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.39G>A (p.Ser13=) single nucleotide variant Epilepsy [RCV003531014] Chr16:574113 [GRCh38]
Chr16:624113 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1284G>A (p.Lys428=) single nucleotide variant Epilepsy [RCV003531176] Chr16:579129 [GRCh38]
Chr16:629129 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1185C>A (p.Leu395=) single nucleotide variant Epilepsy [RCV003531087] Chr16:578900 [GRCh38]
Chr16:628900 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.60G>A (p.Val20=) single nucleotide variant Epilepsy [RCV003531168] Chr16:574134 [GRCh38]
Chr16:624134 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1059C>T (p.His353=) single nucleotide variant Epilepsy [RCV003531282] Chr16:578495 [GRCh38]
Chr16:628495 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1531+1G>A single nucleotide variant Epilepsy [RCV003531030] Chr16:580973 [GRCh38]
Chr16:630973 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_004204.5(PIGQ):c.275C>A (p.Pro92His) single nucleotide variant Epilepsy [RCV003816122] Chr16:574349 [GRCh38]
Chr16:624349 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1593+14T>A single nucleotide variant Epilepsy [RCV003531249] Chr16:582323 [GRCh38]
Chr16:632323 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.927C>T (p.Leu309=) single nucleotide variant Epilepsy [RCV003850680] Chr16:576239 [GRCh38]
Chr16:626239 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1249C>T (p.Leu417=) single nucleotide variant Epilepsy [RCV003817546] Chr16:579094 [GRCh38]
Chr16:629094 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.396C>T (p.Asp132=) single nucleotide variant Epilepsy [RCV003531359] Chr16:574470 [GRCh38]
Chr16:624470 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.758G>A (p.Arg253Gln) single nucleotide variant Epilepsy [RCV003815175] Chr16:575907 [GRCh38]
Chr16:625907 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.220G>T (p.Glu74Ter) single nucleotide variant Epilepsy [RCV003838695] Chr16:574294 [GRCh38]
Chr16:624294 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1335+18T>G single nucleotide variant Epilepsy [RCV003531210] Chr16:579198 [GRCh38]
Chr16:629198 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1638C>T (p.Leu546=) single nucleotide variant Epilepsy [RCV003531315] Chr16:582927 [GRCh38]
Chr16:632927 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.255dup (p.Ala86fs) duplication Epilepsy [RCV003867035] Chr16:574328..574329 [GRCh38]
Chr16:624328..624329 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.1740G>A (p.Gln580=) single nucleotide variant Epilepsy [RCV003841210] Chr16:583029 [GRCh38]
Chr16:633029 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.420G>A (p.Gln140=) single nucleotide variant not provided [RCV003887330] Chr16:574494 [GRCh38]
Chr16:624494 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1412C>T (p.Thr471Ile) single nucleotide variant not provided [RCV003885038] Chr16:580259 [GRCh38]
Chr16:630259 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.*81C>T single nucleotide variant not provided [RCV003885153] Chr16:583116 [GRCh38]
Chr16:633116 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1134_1143del (p.Ala377_Cys378insTer) deletion PIGQ-related disorder [RCV003896979] Chr16:578843..578852 [GRCh38]
Chr16:628843..628852 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_004204.5(PIGQ):c.*95T>C single nucleotide variant PIGQ-related disorder [RCV003966939] Chr16:583130 [GRCh38]
Chr16:633130 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1229A>G (p.Tyr410Cys) single nucleotide variant Inborn genetic diseases [RCV004503738] Chr16:579074 [GRCh38]
Chr16:629074 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.983T>C (p.Met328Thr) single nucleotide variant Inborn genetic diseases [RCV004503739] Chr16:578419 [GRCh38]
Chr16:628419 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1557737_?)del deletion not provided [RCV004582850] Chr16:256302..1557737 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.821+74C>T single nucleotide variant not provided [RCV004575147] Chr16:576044 [GRCh38]
Chr16:626044 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624075)_(633035_?)del deletion Epilepsy [RCV004581459] Chr16:624075..633035 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_339420)_(3767509_?)dup duplication Epilepsy [RCV004581460]|Idiopathic generalized epilepsy [RCV004581461] Chr16:339420..3767509 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_628765)_(633035_?)dup duplication Epilepsy [RCV004581462] Chr16:628765..633035 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_396128)_(1204056_?)dup duplication Idiopathic generalized epilepsy [RCV004581577] Chr16:396128..1204056 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1721G>A (p.Arg574Lys) single nucleotide variant Inborn genetic diseases [RCV004657175] Chr16:583010 [GRCh38]
Chr16:633010 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.519G>T (p.Glu173Asp) single nucleotide variant Inborn genetic diseases [RCV004648198] Chr16:574593 [GRCh38]
Chr16:624593 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1389A>G (p.Thr463=) single nucleotide variant not provided [RCV004809505] Chr16:580236 [GRCh38]
Chr16:630236 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.942+3G>C single nucleotide variant not provided [RCV004781024] Chr16:576257 [GRCh38]
Chr16:626257 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.*383G>A single nucleotide variant PIGQ-related disorder [RCV004728128] Chr16:583418 [GRCh38]
Chr16:633418 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.*364A>T single nucleotide variant not provided [RCV004722478] Chr16:583399 [GRCh38]
Chr16:633399 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.*473C>T single nucleotide variant not provided [RCV004722676] Chr16:583508 [GRCh38]
Chr16:633508 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.235C>T (p.Arg79Cys) single nucleotide variant Inborn genetic diseases [RCV004959778] Chr16:574309 [GRCh38]
Chr16:624309 [GRCh37]
Chr16:16p13.3		 likely benign
NM_004204.5(PIGQ):c.1330G>A (p.Asp444Asn) single nucleotide variant Inborn genetic diseases [RCV004959779] Chr16:579175 [GRCh38]
Chr16:629175 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.1665C>T (p.His555=) single nucleotide variant Inborn genetic diseases [RCV004959781] Chr16:582954 [GRCh38]
Chr16:632954 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_004204.5(PIGQ):c.958C>A (p.Leu320Ile) single nucleotide variant Inborn genetic diseases [RCV004959780] Chr16:578394 [GRCh38]
Chr16:628394 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:513767-5555136)x3 copy number gain not provided [RCV004819313] Chr16:513767..5555136 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_004204.5(PIGQ):c.*69C>T single nucleotide variant not provided [RCV005001651] Chr16:583104 [GRCh38]
Chr16:633104 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-13.13(chr16:85881-12268399)x3 copy number gain not provided [RCV004819312] Chr16:85881..12268399 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:6371
Count of miRNA genes:1073
Interacting mature miRNAs:1376
Transcripts:ENST00000026218, ENST00000293874, ENST00000321878, ENST00000409439, ENST00000409527, ENST00000420990, ENST00000422307, ENST00000439574, ENST00000443147, ENST00000470411, ENST00000476438, ENST00000480424, ENST00000537901, ENST00000540241, ENST00000540548, ENST00000544860
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597481980GWAS1578054_Hreticulocyte count QTL GWAS1578054 (human)4e-24reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)16572565572566Human
407301827GWAS950803_Hreticulocyte measurement QTL GWAS950803 (human)2e-11reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)16571612571613Human
597090896GWAS1186970_Hmean reticulocyte volume QTL GWAS1186970 (human)1e-10reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)16583764583765Human
597090897GWAS1186971_Hmean reticulocyte volume QTL GWAS1186971 (human)3e-18reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)16581752581753Human
597491412GWAS1587486_Hinsomnia QTL GWAS1587486 (human)5e-10insomnia16570709570710Human
596955068GWAS1074587_HRed cell distribution width QTL GWAS1074587 (human)2e-09Red cell distribution width16582138582139Human
597491413GWAS1587487_Hinsomnia QTL GWAS1587487 (human)4e-09insomnia16582198582199Human
597383700GWAS1479774_HRed cell distribution width QTL GWAS1479774 (human)2e-09Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)16582138582139Human
407382842GWAS1031818_Hobsolete_red blood cell distribution width QTL GWAS1031818 (human)2e-09obsolete_red blood cell distribution width16582138582139Human
597372783GWAS1468857_Hlumbar disc degeneration QTL GWAS1468857 (human)0.000004lumbar disc degeneration16580665580666Human
597524680GWAS1620754_Hhemoglobin measurement QTL GWAS1620754 (human)4e-11hemoglobin measurementhemoglobin measurement (CMO:0000508)16580665580666Human
597469572GWAS1565646_Hreticulocyte measurement QTL GWAS1565646 (human)2e-21reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)16572565572566Human
597374947GWAS1471021_Hreticulocyte count QTL GWAS1471021 (human)5e-13reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)16572565572566Human
597262785GWAS1358859_HBMI-adjusted hip circumference QTL GWAS1358859 (human)3e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)16583764583765Human
597383365GWAS1479439_Hmean corpuscular hemoglobin concentration QTL GWAS1479439 (human)1e-32mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)16582138582139Human

Markers in Region
D11S3316  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map7p15-p14UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q12-q13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map14q31UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1950 465 2270 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_148920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB003723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AE006464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF030177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010094 (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
  DA206420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R45240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000026218   ⟹   ENSP00000026218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16570,018 - 584,109 (+)Ensembl
Ensembl Acc Id: ENST00000293874   ⟹   ENSP00000293874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16566,995 - 574,519 (+)Ensembl
Ensembl Acc Id: ENST00000321878   ⟹   ENSP00000326674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16569,968 - 584,109 (+)Ensembl
Ensembl Acc Id: ENST00000409527   ⟹   ENSP00000386760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16567,009 - 583,035 (+)Ensembl
Ensembl Acc Id: ENST00000420990   ⟹   ENSP00000409341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16578,405 - 582,647 (+)Ensembl
Ensembl Acc Id: ENST00000422307   ⟹   ENSP00000413753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16569,976 - 577,234 (+)Ensembl
Ensembl Acc Id: ENST00000439574   ⟹   ENSP00000387820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16569,968 - 574,409 (+)Ensembl
Ensembl Acc Id: ENST00000443147   ⟹   ENSP00000410434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16572,506 - 583,095 (+)Ensembl
Ensembl Acc Id: ENST00000470411   ⟹   ENSP00000439650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16570,062 - 577,217 (+)Ensembl
Ensembl Acc Id: ENST00000476438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16581,761 - 584,108 (+)Ensembl
Ensembl Acc Id: ENST00000480424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16578,927 - 584,108 (+)Ensembl
Ensembl Acc Id: ENST00000537901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16578,060 - 578,802 (+)Ensembl
Ensembl Acc Id: ENST00000540241   ⟹   ENSP00000439374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16579,091 - 583,223 (+)Ensembl
Ensembl Acc Id: ENST00000540548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16582,490 - 582,947 (+)Ensembl
Ensembl Acc Id: ENST00000544860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16577,901 - 578,843 (+)Ensembl
Ensembl Acc Id: ENST00000634341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16582,877 - 583,922 (+)Ensembl
Ensembl Acc Id: ENST00000635205   ⟹   ENSP00000489216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16578,831 - 583,455 (+)Ensembl
Ensembl Acc Id: ENST00000635909   ⟹   ENSP00000490267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16574,332 - 584,083 (+)Ensembl
Ensembl Acc Id: ENST00000635935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16578,291 - 580,777 (+)Ensembl
Ensembl Acc Id: ENST00000636005   ⟹   ENSP00000490498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16574,707 - 583,334 (+)Ensembl
Ensembl Acc Id: ENST00000636657   ⟹   ENSP00000490087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16569,981 - 584,094 (+)Ensembl
Ensembl Acc Id: ENST00000637468   ⟹   ENSP00000490672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16574,751 - 582,893 (+)Ensembl
Ensembl Acc Id: ENST00000637701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16570,301 - 570,658 (+)Ensembl
Ensembl Acc Id: ENST00000638143   ⟹   ENSP00000490695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16575,946 - 580,922 (+)Ensembl
Ensembl Acc Id: ENST00000638152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16583,584 - 583,770 (+)Ensembl
RefSeq Acc Id: NM_004204   ⟹   NP_004195
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816569,968 - 584,109 (+)NCBI
GRCh3716619,968 - 634,136 (+)NCBI
Build 3616560,005 - 574,109 (+)NCBI Archive
Celera16820,410 - 834,887 (+)RGD
HuRef16541,643 - 556,095 (+)NCBI
CHM1_116619,978 - 634,251 (+)NCBI
T2T-CHM13v2.016573,385 - 587,926 (+)NCBI
Sequence:
RefSeq Acc Id: NM_148920   ⟹   NP_683721
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816569,968 - 584,109 (+)NCBI
GRCh3716619,968 - 634,136 (+)NCBI
Build 3616560,005 - 574,110 (+)NCBI Archive
Celera16820,410 - 834,887 (+)RGD
HuRef16541,643 - 556,095 (+)NCBI
CHM1_116619,978 - 634,251 (+)NCBI
T2T-CHM13v2.016573,385 - 587,926 (+)NCBI
Sequence:
RefSeq Acc Id: NP_683721   ⟸   NM_148920
- Peptide Label: isoform 1
- UniProtKB: Q96S22 (UniProtKB/Swiss-Prot),   Q96G00 (UniProtKB/Swiss-Prot),   O14927 (UniProtKB/Swiss-Prot),   D3DU52 (UniProtKB/Swiss-Prot),   A2IDE1 (UniProtKB/Swiss-Prot),   Q9UJH4 (UniProtKB/Swiss-Prot),   Q9BRB3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004195   ⟸   NM_004204
- Peptide Label: isoform 2
- UniProtKB: B2RAU6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000489216   ⟸   ENST00000635205
Ensembl Acc Id: ENSP00000387820   ⟸   ENST00000439574
Ensembl Acc Id: ENSP00000490267   ⟸   ENST00000635909
Ensembl Acc Id: ENSP00000490498   ⟸   ENST00000636005
Ensembl Acc Id: ENSP00000490087   ⟸   ENST00000636657
Ensembl Acc Id: ENSP00000293874   ⟸   ENST00000293874
Ensembl Acc Id: ENSP00000490672   ⟸   ENST00000637468
Ensembl Acc Id: ENSP00000490695   ⟸   ENST00000638143
Ensembl Acc Id: ENSP00000326674   ⟸   ENST00000321878
Ensembl Acc Id: ENSP00000410434   ⟸   ENST00000443147
Ensembl Acc Id: ENSP00000439650   ⟸   ENST00000470411
Ensembl Acc Id: ENSP00000026218   ⟸   ENST00000026218
Ensembl Acc Id: ENSP00000386760   ⟸   ENST00000409527
Ensembl Acc Id: ENSP00000409341   ⟸   ENST00000420990
Ensembl Acc Id: ENSP00000439374   ⟸   ENST00000540241
Ensembl Acc Id: ENSP00000413753   ⟸   ENST00000422307

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BRB3-F1-model_v2 AlphaFold Q9BRB3 1-760 view protein structure

Promoters
RGD ID:6793369
Promoter ID:HG_KWN:22619
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000333922,   UC010BQW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3616556,749 - 557,249 (+)MPROMDB
RGD ID:6792989
Promoter ID:HG_KWN:22620
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409439,   OTTHUMT00000109083,   OTTHUMT00000239270,   OTTHUMT00000333917,   OTTHUMT00000333918,   UC002CHM.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3616558,941 - 560,092 (+)MPROMDB
RGD ID:7230795
Promoter ID:EPDNEW_H21143
Type:initiation region
Name:PIGQ_2
Description:phosphatidylinositol glycan anchor biosynthesis class Q
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21144  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816568,939 - 568,999EPDNEW
RGD ID:6793367
Promoter ID:HG_KWN:22622
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000333919
Position:
Human AssemblyChrPosition (strand)Source
Build 3616568,941 - 569,441 (+)MPROMDB
RGD ID:7230797
Promoter ID:EPDNEW_H21144
Type:initiation region
Name:PIGQ_1
Description:phosphatidylinositol glycan anchor biosynthesis class Q
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21143  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816569,981 - 570,041EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14135 AgrOrtholog
COSMIC PIGQ COSMIC
Ensembl Genes ENSG00000007541 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000026218 ENTREZGENE
  ENST00000026218.9 UniProtKB/Swiss-Prot
  ENST00000293874 UniProtKB/TrEMBL
  ENST00000321878 ENTREZGENE
  ENST00000321878.10 UniProtKB/Swiss-Prot
  ENST00000409527.6 UniProtKB/Swiss-Prot
  ENST00000420990.6 UniProtKB/TrEMBL
  ENST00000422307.6 UniProtKB/TrEMBL
  ENST00000439574.1 UniProtKB/TrEMBL
  ENST00000443147.5 UniProtKB/TrEMBL
  ENST00000470411.2 UniProtKB/Swiss-Prot
  ENST00000540241.1 UniProtKB/TrEMBL
  ENST00000635205.1 UniProtKB/TrEMBL
  ENST00000635909.1 UniProtKB/TrEMBL
  ENST00000636005.1 UniProtKB/TrEMBL
  ENST00000636657.1 UniProtKB/TrEMBL
  ENST00000637468.1 UniProtKB/TrEMBL
  ENST00000638143.1 UniProtKB/TrEMBL
GTEx ENSG00000007541 GTEx
HGNC ID HGNC:14135 ENTREZGENE
Human Proteome Map PIGQ Human Proteome Map
InterPro GlcNAc_Gpi1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9091 UniProtKB/Swiss-Prot
NCBI Gene 9091 ENTREZGENE
OMIM 605754 OMIM
PANTHER PHOSPHATIDYLINOSITOL N-ACETYLGLUCOSAMINYLTRANSFERASE SUBUNIT Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21329 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Gpi1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33299 PharmGKB
UniProt A0A0U1RQX6_HUMAN UniProtKB/TrEMBL
  A0A1B0GUF6_HUMAN UniProtKB/TrEMBL
  A0A1B0GUW1_HUMAN UniProtKB/TrEMBL
  A0A1B0GVF8_HUMAN UniProtKB/TrEMBL
  A0A1B0GVV7_HUMAN UniProtKB/TrEMBL
  A0A1B0GVY0_HUMAN UniProtKB/TrEMBL
  A2IDE1 ENTREZGENE
  B2RAU6 ENTREZGENE, UniProtKB/TrEMBL
  B8ZZ29_HUMAN UniProtKB/TrEMBL
  B8ZZ31_HUMAN UniProtKB/TrEMBL
  D3DU52 ENTREZGENE
  E7ERP4_HUMAN UniProtKB/TrEMBL
  H0YFM9_HUMAN UniProtKB/TrEMBL
  H7C336_HUMAN UniProtKB/TrEMBL
  J3QTH6_HUMAN UniProtKB/TrEMBL
  O14927 ENTREZGENE
  PIGQ_HUMAN UniProtKB/Swiss-Prot
  Q96G00 ENTREZGENE
  Q96S22 ENTREZGENE
  Q9BRB3 ENTREZGENE
  Q9UJH4 ENTREZGENE
UniProt Secondary A2IDE1 UniProtKB/Swiss-Prot
  D3DU52 UniProtKB/Swiss-Prot
  O14927 UniProtKB/Swiss-Prot
  Q96G00 UniProtKB/Swiss-Prot
  Q96S22 UniProtKB/Swiss-Prot
  Q9UJH4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 PIGQ  phosphatidylinositol glycan anchor biosynthesis class Q    phosphatidylinositol glycan anchor biosynthesis, class Q  Symbol and/or name change 5135510 APPROVED