COG4 (component of oligomeric golgi complex 4)

Gene: COG4 (component of oligomeric golgi complex 4) Homo sapiens

Analyze

Symbol:

COG4

Name:

component of oligomeric golgi complex 4

RGD ID:

1321515

HGNC Page

HGNC:18620

Description:

Enables identical protein binding activity. Involved in Golgi organization; Golgi vesicle transport; and glycosylation. Part of Golgi transport complex. Implicated in Saul-Wilson syndrome and congenital disorder of glycosylation type IIj.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CDG2J; COD1; COG complex subunit 4; complexed with Dor1p; conserved oligomeric Golgi complex protein 4; conserved oligomeric Golgi complex subunit 4; DKFZp586E1519; SWILS

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Cog4 (component of oligomeric golgi complex 4)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Cog4 (component of oligomeric golgi complex 4)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Cog4 (component of oligomeric golgi complex 4)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	COG4 (component of oligomeric golgi complex 4)	NCBI	Ortholog
Canis lupus familiaris (dog):	COG4 (component of oligomeric golgi complex 4)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Cog4 (component of oligomeric golgi complex 4)	NCBI	Ortholog
Sus scrofa (pig):	COG4 (component of oligomeric golgi complex 4)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	COG4 (component of oligomeric golgi complex 4)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Cog4 (component of oligomeric golgi complex 4)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Fbln2 (fibulin 2)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Cog4 (component of oligomeric golgi complex 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Cog4 (component of oligomeric golgi complex 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	cog4 (component of oligomeric golgi complex 4)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG7456	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	COG4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	cogc-4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	cog4.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	cog4	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	70,480,567 - 70,523,554 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	70,480,568 - 70,523,560 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	70,514,470 - 70,557,457 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	69,071,973 - 69,114,958 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	69,071,977 - 69,114,935	NCBI
Celera	16	54,970,686 - 55,013,821 (+)	NCBI		Celera
Cytogenetic Map	16	q22.1	NCBI
HuRef	16	56,346,588 - 56,388,520 (-)	NCBI		HuRef
CHM1_1	16	71,921,846 - 71,964,791 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	76,291,598 - 76,334,735 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autosomal dominant dyskeratosis congenita 6 (IAGP)

Charcot-Marie-Tooth disease type 2 (IAGP)

congenital disorder of glycosylation type IIj (EXP,IAGP)

Developmental Disabilities (IAGP)

genetic disease (IAGP)

pre-malignant neoplasm (EXP)

Saul-Wilson syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

1-chloro-2,4-dinitrobenzene (EXP)

17alpha-ethynylestradiol (ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-hydroxypropanoic acid (EXP)

3-chloropropane-1,2-diol (ISO)

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

acrolein (EXP)

aflatoxin B1 (EXP)

Aflatoxin B2 alpha (EXP)

alpha-pinene (EXP)

aristolochic acid A (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP,ISO)

caffeine (EXP)

captan (ISO)

chlordecone (ISO)

cobalt dichloride (EXP)

copper(II) sulfate (EXP)

coumestrol (EXP)

cyclosporin A (EXP)

doxorubicin (EXP)

elemental selenium (EXP)

epoxiconazole (ISO)

folic acid (ISO)

folpet (ISO)

FR900359 (EXP)

glafenine (ISO)

ivermectin (EXP)

nickel atom (EXP)

ozone (EXP)

paracetamol (EXP,ISO)

pirinixic acid (ISO)

propiconazole (ISO)

rac-lactic acid (EXP)

resveratrol (EXP)

rotenone (EXP)

selenium atom (EXP)

sodium dichromate (ISO)

testosterone (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

urethane (EXP)

vinclozolin (ISO)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

glycosylation (IMP)

Golgi organization (IBA,IEA,IMP)

protein transport (IEA)

retrograde transport, vesicle recycling within Golgi (IMP)

retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (IBA,IEA,IMP)

Cellular Component

cytoplasm (IEA)

cytosol (IEA)

Golgi apparatus (IEA)

Golgi membrane (IEA,NAS,TAS)

Golgi transport complex (IBA,IDA,IEA,NAS)

membrane (IEA)

trans-Golgi network membrane (TAS)

Molecular Function

identical protein binding (IPI)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal facial shape (IAGP)

Abnormal protein N-linked glycosylation (IAGP)

Abnormal protein O-linked glycosylation (IAGP)

Abnormality of the coagulation cascade (IAGP)

Absent speech (IAGP)

Ataxia (IAGP)

Autosomal dominant inheritance (IAGP)

Autosomal recessive inheritance (IAGP)

Axial hypotonia (IAGP)

Blue sclerae (IAGP)

Cataract (IAGP)

Cerebral atrophy (IAGP)

Chronic diarrhea (IAGP)

Cirrhosis (IAGP)

Complex febrile seizure (IAGP)

Cone-shaped epiphyses of the phalanges of the hand (IAGP)

Congenital onset (IAGP)

Convex nasal ridge (IAGP)

Coxa valga (IAGP)

Delayed gross motor development (IAGP)

Delayed speech and language development (IAGP)

Elevated circulating alkaline phosphatase concentration (IAGP)

Elevated circulating hepatic transaminase concentration (IAGP)

Enlarged epiphyses (IAGP)

Failure to thrive (IAGP)

Failure to thrive in infancy (IAGP)

Fatal liver failure in infancy (IAGP)

Feeding difficulties (IAGP)

Flared metaphysis (IAGP)

Frontal bossing (IAGP)

Frontotemporal cerebral atrophy (IAGP)

Generalized neonatal hypotonia (IAGP)

Global developmental delay (IAGP)

Growth delay (IAGP)

Hearing impairment (IAGP)

Hepatic failure (IAGP)

Hepatomegaly (IAGP)

Hepatosplenomegaly (IAGP)

Hypercholesterolemia (IAGP)

Hyperreflexia (IAGP)

Hypoplasia of proximal fibula (IAGP)

Hypoplasia of the corpus callosum (IAGP)

Hypoplasia of the odontoid process (IAGP)

Immunodeficiency (IAGP)

Infantile onset (IAGP)

Intermittent diarrhea (IAGP)

Intrauterine growth retardation (IAGP)

Irregular vertebral endplates (IAGP)

Irregularity of vertebral bodies (IAGP)

Irritability (IAGP)

Limb hypertonia (IAGP)

Madelung deformity (IAGP)

Malar flattening (IAGP)

Microcephaly (IAGP)

Micrognathia (IAGP)

Motor delay (IAGP)

Narrow nasal bridge (IAGP)

Neonatal sepsis (IAGP)

Neutropenia (IAGP)

Nyctalopia (IAGP)

Nystagmus (IAGP)

Overhanging nasal tip (IAGP)

Overtubulated long bones (IAGP)

Pectus carinatum (IAGP)

Pectus excavatum (IAGP)

Platyspondyly (IAGP)

Postnatal growth retardation (IAGP)

Progeroid facial appearance (IAGP)

Prominent forehead (IAGP)

Prominent superficial veins (IAGP)

Proptosis (IAGP)

Pseudoepiphyses of the metacarpals (IAGP)

Recurrent infection of the gastrointestinal tract (IAGP)

Recurrent respiratory infections (IAGP)

Recurrent upper respiratory tract infections (IAGP)

Seizure (IAGP)

Sensorineural hearing impairment (IAGP)

Short distal phalanx of finger (IAGP)

Short metacarpal (IAGP)

Short metatarsal (IAGP)

Short palm (IAGP)

Short stature (IAGP)

Sloping forehead (IAGP)

Small hand (IAGP)

Spinal cord compression (IAGP)

Splenomegaly (IAGP)

Syringomyelia (IAGP)

Talipes equinovarus (IAGP)

Thick hair (IAGP)

Thrombocytopenia (IAGP)

Type II transferrin isoform profile (IAGP)

Ventriculomegaly (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.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
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:11703943	PMID:11929878	PMID:11980916	PMID:12477932	PMID:14702039	PMID:14759258	PMID:15047703	PMID:15342556	PMID:15489334	PMID:16344560	PMID:18187620	PMID:19494034
PMID:19536132	PMID:19651599	PMID:20301507	PMID:20936779	PMID:21145461	PMID:21873635	PMID:21900206	PMID:22939629	PMID:23383273	PMID:23956138	PMID:25231870	PMID:25921289
PMID:26186194	PMID:26344197	PMID:26496610	PMID:26514267	PMID:27066481	PMID:28514442	PMID:29467253	PMID:30290151	PMID:30833792	PMID:31056421	PMID:31091453	PMID:32078278
PMID:32235678	PMID:32296183	PMID:32652690	PMID:32838362	PMID:33194618	PMID:33961781	PMID:34079125	PMID:34373451	PMID:34432599	PMID:34597346	PMID:34672954	PMID:35831314
PMID:35914814	PMID:36215168	PMID:37827155

Genomics

Comparative Map Data

COG4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	70,480,567 - 70,523,554 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	70,480,568 - 70,523,560 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	70,514,470 - 70,557,457 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	69,071,973 - 69,114,958 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	69,071,977 - 69,114,935	NCBI
Celera	16	54,970,686 - 55,013,821 (+)	NCBI		Celera
Cytogenetic Map	16	q22.1	NCBI
HuRef	16	56,346,588 - 56,388,520 (-)	NCBI		HuRef
CHM1_1	16	71,921,846 - 71,964,791 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	76,291,598 - 76,334,735 (-)	NCBI		T2T-CHM13v2.0

Cog4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	111,573,232 - 111,608,866 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	111,573,232 - 111,608,859 (+)	Ensembl		GRCm39 Ensembl
GRCm38	8	110,846,600 - 110,882,234 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	110,846,600 - 110,882,227 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	113,370,924 - 113,406,134 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	113,733,724 - 113,768,902 (+)	NCBI		MGSCv36	mm8
Celera	8	115,070,562 - 115,105,856 (+)	NCBI		Celera
Cytogenetic Map	8	E1	NCBI
cM Map	8	57.76	NCBI

Cog4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	19	55,729,854 - 55,763,902 (+)	NCBI		GRCr8
mRatBN7.2	19	38,820,478 - 38,854,803 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	19	38,820,501 - 38,854,796 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	19	45,625,539 - 45,658,998 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	19	46,278,907 - 46,312,366 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	19	48,589,673 - 48,623,318 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	19	43,358,057 - 43,391,828 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	19	43,358,057 - 43,391,828 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	19	54,191,116 - 54,224,687 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	40,769,219 - 40,803,409 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	19	40,774,043 - 40,808,258 (+)	NCBI
Celera	19	38,214,041 - 38,247,592 (+)	NCBI		Celera
Cytogenetic Map	19	q12	NCBI

Cog4
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955484	3,279,302 - 3,307,543 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955484	3,278,624 - 3,307,580 (-)	NCBI	ChiLan1.0	ChiLan1.0

COG4
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	18	83,639,783 - 83,682,396 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	89,569,110 - 89,611,773 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	54,491,189 - 54,533,770 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	70,318,788 - 70,360,843 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	70,318,788 - 70,360,843 (-)	Ensembl	panpan1.1		panPan2

COG4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	76,463,465 - 76,490,406 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	76,463,465 - 76,490,376 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	76,424,749 - 76,451,695 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	76,899,880 - 76,926,816 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	76,899,880 - 76,926,802 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	76,721,873 - 76,748,762 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	76,544,892 - 76,571,829 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	77,036,954 - 77,064,098 (-)	NCBI		UU_Cfam_GSD_1.0

Cog4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409349	36,472,911 - 36,502,714 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936475	23,086,372 - 23,119,163 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936475	23,086,406 - 23,116,203 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

COG4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	13,490,116 - 13,524,452 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	13,492,876 - 13,524,442 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

COG4
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	5	53,635,045 - 53,673,205 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	53,635,485 - 53,673,227 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666047	16,431,232 - 16,471,696 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cog4
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624746	12,715,437 - 12,747,823 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624746	12,715,437 - 12,747,187 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in COG4
298 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_015386.3(COG4):c.844+2T>A	single nucleotide variant	not provided [RCV000520783]	Chr16:70509914 [GRCh38] Chr16:70543817 [GRCh37] Chr16:16q22.1	pathogenic
NC_000016.10:g.(70426035_70473004)_(70512433_70519648)del	deletion	COG4-congenital disorder of glycosylation [RCV000003838]	Chr16:70473004..70512433 [GRCh38] Chr16:16q22.1	pathogenic
NM_015386.3(COG4):c.826C>T (p.Leu276Phe)	single nucleotide variant	not provided [RCV000519600]	Chr16:70509934 [GRCh38] Chr16:70543837 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2197C>T (p.Arg733Trp)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000003837]\|See cases [RCV002251866]\|not provided [RCV001703413]	Chr16:70481397 [GRCh38] Chr16:70515300 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic
NM_015386.3(COG4):c.697G>T (p.Glu233Ter)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000024608]	Chr16:70512280 [GRCh38] Chr16:70546183 [GRCh37] Chr16:16q22.1	pathogenic
NM_015386.3(COG4):c.2318T>G (p.Leu773Arg)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000024609]	Chr16:70481062 [GRCh38] Chr16:70514965 [GRCh37] Chr16:16q22.1	pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	copy number gain	See cases [RCV000052422]	Chr16:70514631..90081985 [GRCh38] Chr16:70548534..90148393 [GRCh37] Chr16:69106035..88675894 [NCBI36] Chr16:16q22.1-24.3	pathogenic
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	copy number gain	See cases [RCV000052405]	Chr16:56883592..71279975 [GRCh38] Chr16:56917504..71313878 [GRCh37] Chr16:55475005..69871379 [NCBI36] Chr16:16q13-22.2	pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	copy number gain	See cases [RCV000052408]	Chr16:58456122..74708723 [GRCh38] Chr16:58490026..74742621 [GRCh37] Chr16:57047527..73300122 [NCBI36] Chr16:16q21-23.1	pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	copy number gain	See cases [RCV000052421]	Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	copy number loss	See cases [RCV000053356]	Chr16:69918076..76723348 [GRCh38] Chr16:69951979..76757245 [GRCh37] Chr16:68509480..75314746 [NCBI36] Chr16:16q22.1-23.1	pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]\|See cases [RCV000053334]	Chr16:63318997..70555249 [GRCh38] Chr16:63352901..70589152 [GRCh37] Chr16:61910402..69146653 [NCBI36] Chr16:16q21-22.1	pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	copy number loss	See cases [RCV000053337]	Chr16:68698941..74353205 [GRCh38] Chr16:68732844..74387103 [GRCh37] Chr16:67290345..72944604 [NCBI36] Chr16:16q22.1-23.1	pathogenic
NM_015386.3(COG4):c.1210C>A (p.Leu404Met)	single nucleotide variant	not provided [RCV000081728]	Chr16:70498041 [GRCh38] Chr16:70531944 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.171+18T>C	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001515445]\|not specified [RCV000081729]	Chr16:70523355 [GRCh38] Chr16:70557258 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001080956]\|not provided [RCV000432511]\|not specified [RCV000081730]	Chr16:70483921 [GRCh38] Chr16:70517824 [GRCh37] Chr16:16q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_015386.3(COG4):c.485C>T (p.Thr162Ile)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000989631]\|Microcephalic osteodysplastic dysplasia, Saul-Wilson type [RCV001582570]\|not specified [RCV000081731]	Chr16:70514394 [GRCh38] Chr16:70548297 [GRCh37] Chr16:16q22.1	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_015386.3(COG4):c.592C>T (p.Arg198Cys)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000865334]\|not provided [RCV001575382]\|not specified [RCV000081732]	Chr16:70512385 [GRCh38] Chr16:70546288 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_015386.3(COG4):c.646C>T (p.Leu216=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001520815]\|Microcephalic osteodysplastic dysplasia, Saul-Wilson type [RCV001582571]\|not specified [RCV000081733]	Chr16:70512331 [GRCh38] Chr16:70546234 [GRCh37] Chr16:16q22.1	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_015386.3(COG4):c.2142G>A (p.Ser714=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001510538]\|Microcephalic osteodysplastic dysplasia, Saul-Wilson type [RCV001582583]\|not specified [RCV000116788]	Chr16:70481452 [GRCh38] Chr16:70515355 [GRCh37] Chr16:16q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_015386.3(COG4):c.529C>T (p.Arg177Ter)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000190572]\|not provided [RCV003137769]	Chr16:70514350 [GRCh38] Chr16:70548253 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_015386.3(COG4):c.1358G>T (p.Ser453Ile)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001348791]	Chr16:70497344 [GRCh38] Chr16:70531247 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	copy number loss	See cases [RCV000133814]	Chr16:70414573..84908120 [GRCh38] Chr16:70448476..84941726 [GRCh37] Chr16:69005977..83499227 [NCBI36] Chr16:16q22.1-24.1	pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	copy number gain	See cases [RCV000135863]	Chr16:62925929..84585795 [GRCh38] Chr16:62959833..84619401 [GRCh37] Chr16:61517334..83176902 [NCBI36] Chr16:16q21-24.1	pathogenic
GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	copy number gain	See cases [RCV000137875]	Chr16:69918076..71541872 [GRCh38] Chr16:69951979..71575775 [GRCh37] Chr16:68509480..70133276 [NCBI36] Chr16:16q22.1-22.2	uncertain significance
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	copy number gain	See cases [RCV000139426]	Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	copy number gain	See cases [RCV000142038]	Chr16:69053457..83274681 [GRCh38] Chr16:69087360..83308286 [GRCh37] Chr16:67644861..81865787 [NCBI36] Chr16:16q22.1-23.3	pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	copy number gain	See cases [RCV000142578]	Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	copy number gain	See cases [RCV000143425]	Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3	pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	copy number gain	See cases [RCV000143742]	Chr16:65957829..83611443 [GRCh38] Chr16:65991732..83645048 [GRCh37] Chr16:64549233..82202549 [NCBI36] Chr16:16q21-23.3	pathogenic
NM_015386.3(COG4):c.2310C>G (p.Arg770=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001078970]\|not provided [RCV000175467]	Chr16:70481070 [GRCh38] Chr16:70514973 [GRCh37] Chr16:16q22.1	benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207138]	Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3	uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207067]	Chr16:55359026..70884455 [GRCh37] Chr16:16q12.2-22.2	likely pathogenic\|uncertain significance
Single allele	complex	Breast ductal adenocarcinoma [RCV000207314]	Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3	uncertain significance
NM_015386.3(COG4):c.763C>T (p.Leu255=)	single nucleotide variant	not specified [RCV000604925]	Chr16:70509997 [GRCh38] Chr16:70543900 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1074C>T (p.Pro358=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000877476]\|not specified [RCV000606145]	Chr16:70501079 [GRCh38] Chr16:70534982 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_015386.3(COG4):c.387C>A (p.Ala129=)	single nucleotide variant	Congenital disorder of glycosylation [RCV000282473]	Chr16:70514492 [GRCh38] Chr16:70548395 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.*85T>G	single nucleotide variant	not provided [RCV001609429]	Chr16:70480925 [GRCh38] Chr16:70514828 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.59C>T (p.Pro20Leu)	single nucleotide variant	not provided [RCV003318796]	Chr16:70523485 [GRCh38] Chr16:70557388 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1195+8C>T	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000526451]\|COG4-related condition [RCV003920358]\|not specified [RCV000444100]	Chr16:70500950 [GRCh38] Chr16:70534853 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_015386.3(COG4):c.2272G>A (p.Gly758Ser)	single nucleotide variant	Congenital disorder of glycosylation [RCV000291393]	Chr16:70481108 [GRCh38] Chr16:70515011 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.513G>A (p.Ser171=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001423297]	Chr16:70514366 [GRCh38] Chr16:70548269 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_015386.3(COG4):c.2004+11G>C	single nucleotide variant	Congenital disorder of glycosylation [RCV000299776]	Chr16:70482081 [GRCh38] Chr16:70515984 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.739-9C>G	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000576250]\|COG4-related condition [RCV003972367]\|not specified [RCV000424543]	Chr16:70510030 [GRCh38] Chr16:70543933 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.*407T>G	single nucleotide variant	Congenital disorder of glycosylation [RCV000322799]	Chr16:70480603 [GRCh38] Chr16:70514506 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.2067C>T (p.Val689=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002056506]	Chr16:70481803 [GRCh38] Chr16:70515706 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_015386.3(COG4):c.*61G>A	single nucleotide variant	Congenital disorder of glycosylation [RCV000326428]	Chr16:70480949 [GRCh38] Chr16:70514852 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2271C>T (p.Ser757=)	single nucleotide variant	Congenital disorder of glycosylation [RCV000348627]	Chr16:70481109 [GRCh38] Chr16:70515012 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1481+11C>T	single nucleotide variant	Congenital disorder of glycosylation [RCV000306644]	Chr16:70497210 [GRCh38] Chr16:70531113 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1017G>A (p.Gln339=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001084920]\|not provided [RCV000834202]	Chr16:70508450 [GRCh38] Chr16:70542353 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_015386.3(COG4):c.*156C>G	single nucleotide variant	Congenital disorder of glycosylation [RCV000379693]	Chr16:70480854 [GRCh38] Chr16:70514757 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2278T>C (p.Leu760=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000873110]\|not specified [RCV000602866]	Chr16:70481102 [GRCh38] Chr16:70515005 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_015386.3(COG4):c.1481+12T>C	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002137193]	Chr16:70497209 [GRCh38] Chr16:70531112 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_015386.3(COG4):c.1605A>C (p.Thr535=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001516934]\|not specified [RCV000423875]	Chr16:70496308 [GRCh38] Chr16:70530211 [GRCh37] Chr16:16q22.1	benign\|likely benign\|uncertain significance
NM_015386.3(COG4):c.1827+12G>C	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002056507]\|not specified [RCV000437221]	Chr16:70483841 [GRCh38] Chr16:70517744 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_015386.3(COG4):c.2163G>A (p.Thr721=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000865333]\|not specified [RCV000615630]	Chr16:70481431 [GRCh38] Chr16:70515334 [GRCh37] Chr16:16q22.1	benign\|uncertain significance
NM_015386.3(COG4):c.171+3G>A	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000910716]\|COG4-related condition [RCV003950089]	Chr16:70523370 [GRCh38] Chr16:70557273 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_015386.3(COG4):c.825A>G (p.Thr275=)	single nucleotide variant	not provided [RCV000298220]	Chr16:70509935 [GRCh38] Chr16:70543838 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2288G>A (p.Arg763His)	single nucleotide variant	Inborn genetic diseases [RCV003243050]\|not provided [RCV000406294]	Chr16:70481092 [GRCh38] Chr16:70514995 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1558G>A (p.Ala520Thr)	single nucleotide variant	not provided [RCV001269765]	Chr16:70496355 [GRCh38] Chr16:70530258 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_015386.3(COG4):c.1631C>T (p.Ala544Val)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001364935]\|Inborn genetic diseases [RCV003343779]	Chr16:70496282 [GRCh38] Chr16:70530185 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1269A>G (p.Leu423=)	single nucleotide variant	Congenital disorder of glycosylation [RCV000363632]	Chr16:70497982 [GRCh38] Chr16:70531885 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2146A>G (p.Ile716Val)	single nucleotide variant	Congenital disorder of glycosylation [RCV000294992]	Chr16:70481448 [GRCh38] Chr16:70515351 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.591A>G (p.Gln197=)	single nucleotide variant	Congenital disorder of glycosylation [RCV000389024]	Chr16:70512386 [GRCh38] Chr16:70546289 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.18G>C (p.Ala6=)	single nucleotide variant	not specified [RCV000604108]	Chr16:70523526 [GRCh38] Chr16:70557429 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.388A>G (p.Ile130Val)	single nucleotide variant	Congenital disorder of glycosylation [RCV000374681]	Chr16:70514491 [GRCh38] Chr16:70548394 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.129G>A (p.Leu43=)	single nucleotide variant	Congenital disorder of glycosylation [RCV000394177]	Chr16:70523415 [GRCh38] Chr16:70557318 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000625979]\|Inborn genetic diseases [RCV001266583]\|Microcephalic osteodysplastic dysplasia, Saul-Wilson type [RCV000710020]\|not provided [RCV000522988]	Chr16:70496367 [GRCh38] Chr16:70530270 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_015386.3(COG4):c.254+7C>T	single nucleotide variant	not specified [RCV000601531]	Chr16:70519642 [GRCh38] Chr16:70553545 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.73G>T (p.Gly25Ter)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001169885]	Chr16:70523471 [GRCh38] Chr16:70557374 [GRCh37] Chr16:16q22.1	pathogenic
NM_015386.3(COG4):c.2286_2299del (p.Trp762fs)	deletion	not provided [RCV000656293]	Chr16:70481081..70481094 [GRCh38] Chr16:70514984..70514997 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2034C>A (p.Ser678Arg)	single nucleotide variant	not specified [RCV000414413]	Chr16:70481836 [GRCh38] Chr16:70515739 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.558T>C (p.Asp186=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001501749]\|COG4-related condition [RCV003922679]\|not provided [RCV000416225]\|not specified [RCV000605001]	Chr16:70512419 [GRCh38] Chr16:70546322 [GRCh37] Chr16:16q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 16q22.1(chr16:70024576-70673886)x3	copy number gain	See cases [RCV000449413]	Chr16:70024576..70673886 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3	copy number gain	See cases [RCV000446110]	Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
GRCh37/hg19 16q22.1-22.2(chr16:70273406-70960990)x3	copy number gain	See cases [RCV000446624]	Chr16:70273406..70960990 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
NM_015386.3(COG4):c.845-12C>G	single nucleotide variant	not specified [RCV000424033]	Chr16:70509400 [GRCh38] Chr16:70543303 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.*7G>C	single nucleotide variant	COG4-related condition [RCV003959988]\|not specified [RCV000424041]	Chr16:70481003 [GRCh38] Chr16:70514906 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1560C>T (p.Ala520=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000872133]\|not specified [RCV000437906]	Chr16:70496353 [GRCh38] Chr16:70530256 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_015386.3(COG4):c.2225A>G (p.Asn742Ser)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000554254]\|Inborn genetic diseases [RCV003243130]\|not provided [RCV000434619]	Chr16:70481369 [GRCh38] Chr16:70515272 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2348A>G (p.Asp783Gly)	single nucleotide variant	not provided [RCV000424348]	Chr16:70481032 [GRCh38] Chr16:70514935 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.369+13G>T	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003502524]\|not specified [RCV000427898]	Chr16:70517613 [GRCh38] Chr16:70551516 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1710+17C>G	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001523629]\|not specified [RCV000421236]	Chr16:70490313 [GRCh38] Chr16:70524216 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.845-18T>C	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001521026]\|COG4-congenital disorder of glycosylation [RCV002502499]\|not specified [RCV000439055]	Chr16:70509406 [GRCh38] Chr16:70543309 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_015386.3(COG4):c.544+19T>A	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001517236]\|not specified [RCV000422032]	Chr16:70514316 [GRCh38] Chr16:70548219 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.2236-16A>G	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001523062]\|not specified [RCV000425514]	Chr16:70481160 [GRCh38] Chr16:70515063 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1710+14T>C	single nucleotide variant	not specified [RCV000429842]	Chr16:70490316 [GRCh38] Chr16:70524219 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.897G>A (p.Gly299=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000865166]\|COG4-related condition [RCV003902538]\|not specified [RCV000427119]	Chr16:70509336 [GRCh38] Chr16:70543239 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_015386.3(COG4):c.1167C>T (p.Asp389=)	single nucleotide variant	not provided [RCV000920668]\|not specified [RCV000430765]	Chr16:70500986 [GRCh38] Chr16:70534889 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.797G>A (p.Arg266Gln)	single nucleotide variant	not provided [RCV000479737]	Chr16:70509963 [GRCh38] Chr16:70543866 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1795G>A (p.Ala599Thr)	single nucleotide variant	not provided [RCV000485449]	Chr16:70483885 [GRCh38] Chr16:70517788 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1809del (p.Lys603fs)	deletion	not provided [RCV000479342]	Chr16:70483871 [GRCh38] Chr16:70517774 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_015386.3(COG4):c.2236-17dup	duplication	not specified [RCV000478410]	Chr16:70481160..70481161 [GRCh38] Chr16:70515063..70515064 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1482-8dup	duplication	not specified [RCV000483046]	Chr16:70496433..70496434 [GRCh38] Chr16:70530336..70530337 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.14T>C (p.Met5Thr)	single nucleotide variant	Inborn genetic diseases [RCV003352894]\|not provided [RCV000497468]	Chr16:70523530 [GRCh38] Chr16:70557433 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1482-3C>G	single nucleotide variant	not provided [RCV000498008]	Chr16:70496434 [GRCh38] Chr16:70530337 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1415G>A (p.Ser472Asn)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001856979]\|not provided [RCV000493650]	Chr16:70497287 [GRCh38] Chr16:70531190 [GRCh37] Chr16:16q22.1	likely pathogenic\|uncertain significance
NM_015386.3(COG4):c.1948G>A (p.Asp650Asn)	single nucleotide variant	not provided [RCV000494016]	Chr16:70482148 [GRCh38] Chr16:70516051 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
NM_015386.3(COG4):c.599A>G (p.Lys200Arg)	single nucleotide variant	Inborn genetic diseases [RCV002524043]\|not provided [RCV000493288]	Chr16:70512378 [GRCh38] Chr16:70546281 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429]	Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435]	Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
NM_015386.3(COG4):c.518T>C (p.Ile173Thr)	single nucleotide variant	not provided [RCV000598076]	Chr16:70514361 [GRCh38] Chr16:70548264 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1828-10C>A	single nucleotide variant	not specified [RCV000601069]	Chr16:70482831 [GRCh38] Chr16:70516734 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1005C>T (p.Phe335=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000537674]\|COG4-related condition [RCV003960359]\|not provided [RCV003424130]	Chr16:70508462 [GRCh38] Chr16:70542365 [GRCh37] Chr16:16q22.1	likely 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
NM_015386.3(COG4):c.1654_1655del (p.Leu552fs)	microsatellite	not provided [RCV000627449]	Chr16:70490385..70490386 [GRCh38] Chr16:70524288..70524289 [GRCh37] Chr16:16q22.1	likely 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_015386.3(COG4):c.409T>C (p.Leu137=)	single nucleotide variant	not specified [RCV000615348]	Chr16:70514470 [GRCh38] Chr16:70548373 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1053C>T (p.Ile351=)	single nucleotide variant	not specified [RCV000610357]	Chr16:70508414 [GRCh38] Chr16:70542317 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.2019G>A (p.Pro673=)	single nucleotide variant	not specified [RCV000602382]	Chr16:70481851 [GRCh38] Chr16:70515754 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.2005G>C (p.Ala669Pro)	single nucleotide variant	not provided [RCV000656292]	Chr16:70481865 [GRCh38] Chr16:70515768 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_015386.3(COG4):c.1947C>T (p.Asn649=)	single nucleotide variant	not specified [RCV000607977]	Chr16:70482149 [GRCh38] Chr16:70516052 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.94A>G (p.Ile32Val)	single nucleotide variant	Inborn genetic diseases [RCV003276068]	Chr16:70523450 [GRCh38] Chr16:70557353 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	copy number gain	See cases [RCV000512511]	Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3	pathogenic
NM_015386.3(COG4):c.18G>A (p.Ala6=)	single nucleotide variant	not specified [RCV000607753]	Chr16:70523526 [GRCh38] Chr16:70557429 [GRCh37] Chr16:16q22.1	likely benign
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	copy number gain	not provided [RCV000683820]	Chr16:54416050..72453266 [GRCh37] Chr16:16q12.2-22.2	pathogenic
NM_015386.3(COG4):c.1546G>C (p.Gly516Arg)	single nucleotide variant	Microcephalic osteodysplastic dysplasia, Saul-Wilson type [RCV000710021]	Chr16:70496367 [GRCh38] Chr16:70530270 [GRCh37] Chr16:16q22.1	pathogenic
NM_015386.3(COG4):c.1472C>G (p.Ser491Cys)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000707296]	Chr16:70497230 [GRCh38] Chr16:70531133 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.6del (p.Thr3fs)	deletion	COG4-congenital disorder of glycosylation [RCV000692575]	Chr16:70523538 [GRCh38] Chr16:70557441 [GRCh37] Chr16:16q22.1	pathogenic
NM_015386.3(COG4):c.1894T>C (p.Phe632Leu)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000690572]	Chr16:70482755 [GRCh38] Chr16:70516658 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.539A>G (p.Lys180Arg)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000706177]\|Inborn genetic diseases [RCV002534458]\|not provided [RCV003420262]	Chr16:70514340 [GRCh38] Chr16:70548243 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_015386.3(COG4):c.1002+51C>T	single nucleotide variant	not provided [RCV001546155]	Chr16:70509180 [GRCh38] Chr16:70543083 [GRCh37] Chr16:16q22.1	likely benign
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-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
NM_015386.3(COG4):c.369+36_369+38del	deletion	not provided [RCV001581687]	Chr16:70517588..70517590 [GRCh38] Chr16:70551491..70551493 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.255-209dup	duplication	not provided [RCV001611602]	Chr16:70517937..70517938 [GRCh38] Chr16:70551840..70551841 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.172-268C>T	single nucleotide variant	not provided [RCV001645426]	Chr16:70519999 [GRCh38] Chr16:70553902 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1840G>T (p.Glu614Ter)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002499389]\|COG4-congenital disorder of glycosylation [RCV003609168]\|Delayed gross motor development [RCV000782124]\|not provided [RCV000760680]	Chr16:70482809 [GRCh38] Chr16:70516712 [GRCh37] Chr16:16q22.1	pathogenic\|no classifications from unflagged records
GRCh37/hg19 16q22.1(chr16:70471827-70515915)x1	copy number loss	not provided [RCV000751731]	Chr16:70471827..70515915 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.2030A>G (p.Asp677Gly)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000983800]\|COG4-related condition [RCV003906115]\|not provided [RCV001569338]	Chr16:70481840 [GRCh38] Chr16:70515743 [GRCh37] Chr16:16q22.1	benign\|likely benign\|uncertain significance
NM_015386.3(COG4):c.123A>G (p.Thr41=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001397164]	Chr16:70523421 [GRCh38] Chr16:70557324 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.682C>T (p.Leu228=)	single nucleotide variant	not provided [RCV000926056]	Chr16:70512295 [GRCh38] Chr16:70546198 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1927T>C (p.Phe643Leu)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000892924]	Chr16:70482169 [GRCh38] Chr16:70516072 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.2343T>C (p.Ser781=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000921710]	Chr16:70481037 [GRCh38] Chr16:70514940 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.2251G>A (p.Asp751Asn)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000870990]	Chr16:70481129 [GRCh38] Chr16:70515032 [GRCh37] Chr16:16q22.1	likely benign\|conflicting interpretations of pathogenicity
NM_015386.3(COG4):c.1921-9T>C	single nucleotide variant	not provided [RCV000970656]	Chr16:70482184 [GRCh38] Chr16:70516087 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1839G>A (p.Thr613=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002545976]	Chr16:70482810 [GRCh38] Chr16:70516713 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1077C>A (p.Ile359=)	single nucleotide variant	not provided [RCV000902629]	Chr16:70501076 [GRCh38] Chr16:70534979 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.2106+1G>A	single nucleotide variant	Congenital disorder of glycosylation [RCV000779198]	Chr16:70481763 [GRCh38] Chr16:70515666 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.644A>G (p.Asp215Gly)	single nucleotide variant	Inborn genetic diseases [RCV003247950]	Chr16:70512333 [GRCh38] Chr16:70546236 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1647+20C>T	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002538306]\|not provided [RCV000841288]	Chr16:70496246 [GRCh38] Chr16:70530149 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1141A>G (p.Ile381Val)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000823155]	Chr16:70501012 [GRCh38] Chr16:70534915 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1314+14C>T	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002538262]\|not provided [RCV000827604]	Chr16:70497923 [GRCh38] Chr16:70531826 [GRCh37] Chr16:16q22.1	likely benign
NC_000016.9:g.(?_70286614)_(70669268_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV000813323]	Chr16:70252711..70635365 [GRCh38] Chr16:70286614..70669268 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1798G>A (p.Val600Met)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000824114]	Chr16:70483882 [GRCh38] Chr16:70517785 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1(chr16:70393149-70798654)x3	copy number gain	not provided [RCV000847423]	Chr16:70393149..70798654 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1-22.2(chr16:70467293-71560136)x3	copy number gain	not provided [RCV000848000]	Chr16:70467293..71560136 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
NM_015386.3(COG4):c.1106G>A (p.Arg369His)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000822482]	Chr16:70501047 [GRCh38] Chr16:70534950 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1314+86A>C	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000989630]\|not provided [RCV001712845]	Chr16:70497851 [GRCh38] Chr16:70531754 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.2083G>T (p.Val695Leu)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000811610]	Chr16:70481787 [GRCh38] Chr16:70515690 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1-22.2(chr16:70277618-70917102)x4	copy number gain	not provided [RCV000845716]	Chr16:70277618..70917102 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
GRCh37/hg19 16q22.1(chr16:70493170-70531886)x1	copy number loss	not provided [RCV000849308]	Chr16:70493170..70531886 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	copy number gain	not provided [RCV001249359]	Chr16:61524229..90155062 [GRCh37] Chr16:16q21-24.3	not provided
NM_015386.3(COG4):c.1542G>T (p.Gln514His)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001197925]	Chr16:70496371 [GRCh38] Chr16:70530274 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.252G>A (p.Met84Ile)	single nucleotide variant	Inborn genetic diseases [RCV003245827]	Chr16:70519651 [GRCh38] Chr16:70553554 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1061+75G>C	single nucleotide variant	not provided [RCV001572054]	Chr16:70508331 [GRCh38] Chr16:70542234 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.266_267inv (p.Gln89Pro)	inversion	not provided [RCV001569241]	Chr16:70517728..70517729 [GRCh38] Chr16:70551631..70551632 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1921-80C>T	single nucleotide variant	not provided [RCV001548096]	Chr16:70482255 [GRCh38] Chr16:70516158 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.369+15_369+16dup	duplication	not provided [RCV001554890]	Chr16:70517587..70517588 [GRCh38] Chr16:70551490..70551491 [GRCh37] Chr16:16q22.1	likely benign
NC_000016.10:g.70523638_70523639dup	duplication	not provided [RCV001715661]	Chr16:70523627..70523628 [GRCh38] Chr16:70557530..70557531 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.171+63G>C	single nucleotide variant	not provided [RCV001555161]	Chr16:70523310 [GRCh38] Chr16:70557213 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1648-144G>A	single nucleotide variant	not provided [RCV001588765]	Chr16:70490536 [GRCh38] Chr16:70524439 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.369+15dup	duplication	not provided [RCV001618192]	Chr16:70517587..70517588 [GRCh38] Chr16:70551490..70551491 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.2106+67A>C	single nucleotide variant	not provided [RCV001680013]	Chr16:70481697 [GRCh38] Chr16:70515600 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1921-150G>C	single nucleotide variant	not provided [RCV001692939]	Chr16:70482325 [GRCh38] Chr16:70516228 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.369+245T>C	single nucleotide variant	not provided [RCV001696416]	Chr16:70517381 [GRCh38] Chr16:70551284 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1920+154A>G	single nucleotide variant	not provided [RCV001667617]	Chr16:70482575 [GRCh38] Chr16:70516478 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.882G>A (p.Val294=)	single nucleotide variant	not provided [RCV000908002]	Chr16:70509351 [GRCh38] Chr16:70543254 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1072C>A (p.Pro358Thr)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV000939062]	Chr16:70501081 [GRCh38] Chr16:70534984 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.33T>C (p.Pro11=)	single nucleotide variant	not provided [RCV000897165]	Chr16:70523511 [GRCh38] Chr16:70557414 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.150C>T (p.Tyr50=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002066000]	Chr16:70523394 [GRCh38] Chr16:70557297 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.369+1_369+2del	deletion	COG4-congenital disorder of glycosylation [RCV001247888]	Chr16:70517624..70517625 [GRCh38] Chr16:70551527..70551528 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_015386.3(COG4):c.383A>G (p.Gln128Arg)	single nucleotide variant	not provided [RCV003230050]	Chr16:70514496 [GRCh38] Chr16:70548399 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1003-30G>C	single nucleotide variant	not provided [RCV001598240]	Chr16:70508494 [GRCh38] Chr16:70542397 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1711-329C>G	single nucleotide variant	not provided [RCV001553376]	Chr16:70484298 [GRCh38] Chr16:70518201 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.254+170C>G	single nucleotide variant	not provided [RCV001689125]	Chr16:70519479 [GRCh38] Chr16:70553382 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.978C>G (p.Ile326Met)	single nucleotide variant	not provided [RCV003237133]	Chr16:70509255 [GRCh38] Chr16:70543158 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1647+49A>G	single nucleotide variant	not provided [RCV001659020]	Chr16:70496217 [GRCh38] Chr16:70530120 [GRCh37] Chr16:16q22.1	likely benign
GRCh37/hg19 16q22.1(chr16:70510947-70623900)x1	copy number loss	not provided [RCV002473710]	Chr16:70510947..70623900 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.10:g.70523637_70523639dup	duplication	not provided [RCV001674720]	Chr16:70523627..70523628 [GRCh38] Chr16:70557530..70557531 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1900G>A (p.Val634Ile)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002573342]\|not provided [RCV001593718]	Chr16:70482749 [GRCh38] Chr16:70516652 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1002+23A>G	single nucleotide variant	not provided [RCV001717041]	Chr16:70509208 [GRCh38] Chr16:70543111 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1482-50G>A	single nucleotide variant	not provided [RCV001637315]	Chr16:70496481 [GRCh38] Chr16:70530384 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.171+161C>A	single nucleotide variant	not provided [RCV001656353]	Chr16:70523212 [GRCh38] Chr16:70557115 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1196-217_1196-216del	deletion	not provided [RCV001715032]	Chr16:70498271..70498272 [GRCh38] Chr16:70532174..70532175 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1195+275T>A	single nucleotide variant	not provided [RCV001581873]	Chr16:70500683 [GRCh38] Chr16:70534586 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.369+38del	deletion	not provided [RCV001652548]	Chr16:70517588 [GRCh38] Chr16:70551491 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.255-229A>G	single nucleotide variant	not provided [RCV001719630]	Chr16:70517969 [GRCh38] Chr16:70551872 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.255-324C>A	single nucleotide variant	not provided [RCV001620769]	Chr16:70518064 [GRCh38] Chr16:70551967 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1921-31C>T	single nucleotide variant	not provided [RCV001715659]	Chr16:70482206 [GRCh38] Chr16:70516109 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1315-76G>A	single nucleotide variant	not provided [RCV001718543]	Chr16:70497463 [GRCh38] Chr16:70531366 [GRCh37] Chr16:16q22.1	benign
NC_000016.10:g.70523639dup	duplication	not provided [RCV001641136]	Chr16:70523627..70523628 [GRCh38] Chr16:70557530..70557531 [GRCh37] Chr16:16q22.1	benign
GRCh37/hg19 16q22.1(chr16:70381448-70627356)x3	copy number gain	not provided [RCV001006799]	Chr16:70381448..70627356 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.599_600del (p.Lys200fs)	deletion	COG4-congenital disorder of glycosylation [RCV001069760]	Chr16:70512377..70512378 [GRCh38] Chr16:70546280..70546281 [GRCh37] Chr16:16q22.1	pathogenic
NM_015386.3(COG4):c.370-175T>C	single nucleotide variant	not provided [RCV001684217]	Chr16:70514684 [GRCh38] Chr16:70548587 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.738+208_738+209insT	insertion	not provided [RCV001615787]	Chr16:70512030..70512031 [GRCh38] Chr16:70545933..70545934 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.941G>A (p.Cys314Tyr)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001647344]	Chr16:70509292 [GRCh38] Chr16:70543195 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_015386.3(COG4):c.845-88C>T	single nucleotide variant	not provided [RCV001585335]	Chr16:70509476 [GRCh38] Chr16:70543379 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.545-61G>A	single nucleotide variant	not provided [RCV001713268]	Chr16:70512493 [GRCh38] Chr16:70546396 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.369+37_369+38del	deletion	not provided [RCV001534220]	Chr16:70517588..70517589 [GRCh38] Chr16:70551491..70551492 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1255G>T (p.Glu419Ter)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001647345]	Chr16:70497996 [GRCh38] Chr16:70531899 [GRCh37] Chr16:16q22.1	pathogenic
NM_015386.3(COG4):c.1920+255_1920+260del	deletion	not provided [RCV001641024]	Chr16:70482469..70482474 [GRCh38] Chr16:70516372..70516377 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1482-213C>T	single nucleotide variant	not provided [RCV001684730]	Chr16:70496644 [GRCh38] Chr16:70530547 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.369+60A>G	single nucleotide variant	not provided [RCV001714357]	Chr16:70517566 [GRCh38] Chr16:70551469 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.370-123G>A	single nucleotide variant	not provided [RCV001714358]	Chr16:70514632 [GRCh38] Chr16:70548535 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1827+115C>T	single nucleotide variant	not provided [RCV001714272]	Chr16:70483738 [GRCh38] Chr16:70517641 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1403G>A (p.Arg468Gln)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001866224]\|COG4-related condition [RCV003416403]\|not provided [RCV001588399]	Chr16:70497299 [GRCh38] Chr16:70531202 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.83G>T (p.Arg28Leu)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001231594]	Chr16:70523461 [GRCh38] Chr16:70557364 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1128C>A (p.Phe376Leu)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001061564]	Chr16:70501025 [GRCh38] Chr16:70534928 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_015386.3(COG4):c.248G>A (p.Arg83Gln)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001059377]	Chr16:70519655 [GRCh38] Chr16:70553558 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1208G>A (p.Cys403Tyr)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001229684]	Chr16:70498043 [GRCh38] Chr16:70531946 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.495C>G (p.Tyr165Ter)	single nucleotide variant	Congenital disorder of glycosylation type 2J [RCV001333862]	Chr16:70514384 [GRCh38] Chr16:70548287 [GRCh37] Chr16:16q22.1	pathogenic
GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	copy number loss	See cases [RCV002285074]	Chr16:68971067..74823560 [GRCh37] Chr16:16q22.1-23.1	pathogenic
NM_015386.3(COG4):c.1123C>T (p.Arg375Cys)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001306981]	Chr16:70501030 [GRCh38] Chr16:70534933 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NC_000016.9:g.(?_70286614)_(70669268_?)dup	duplication	Charcot-Marie-Tooth disease, type 2 [RCV001304386]	Chr16:70286614..70669268 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2041G>A (p.Gly681Ser)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001338292]	Chr16:70481829 [GRCh38] Chr16:70515732 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.751G>A (p.Ala251Thr)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001360257]	Chr16:70510009 [GRCh38] Chr16:70543912 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.373C>T (p.Arg125Cys)	single nucleotide variant	Inborn genetic diseases [RCV002551587]\|Microcephalic osteodysplastic dysplasia, Saul-Wilson type [RCV001391661]	Chr16:70514506 [GRCh38] Chr16:70548409 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1931A>G (p.Asn644Ser)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001299161]\|not provided [RCV002307722]	Chr16:70482165 [GRCh38] Chr16:70516068 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.101C>T (p.Ala34Val)	single nucleotide variant	Global developmental delay [RCV001281527]	Chr16:70523443 [GRCh38] Chr16:70557346 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2141C>G (p.Ser714Trp)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001315117]	Chr16:70481453 [GRCh38] Chr16:70515356 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1309A>G (p.Asn437Asp)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001317318]\|Inborn genetic diseases [RCV002543722]	Chr16:70497942 [GRCh38] Chr16:70531845 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1632G>A (p.Ala544=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001428762]	Chr16:70496281 [GRCh38] Chr16:70530184 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1711-10T>C	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001437436]	Chr16:70483979 [GRCh38] Chr16:70517882 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.2268T>C (p.Asn756=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001430696]	Chr16:70481112 [GRCh38] Chr16:70515015 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.339C>T (p.Ser113=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001394222]	Chr16:70517656 [GRCh38] Chr16:70551559 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1061+149A>C	single nucleotide variant	not provided [RCV001717055]	Chr16:70508257 [GRCh38] Chr16:70542160 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1397T>C (p.Ile466Thr)	single nucleotide variant	not provided [RCV001508413]	Chr16:70497305 [GRCh38] Chr16:70531208 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1536C>T (p.Asp512=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001461561]	Chr16:70496377 [GRCh38] Chr16:70530280 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.171+10C>A	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001479351]	Chr16:70523363 [GRCh38] Chr16:70557266 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.317G>A (p.Cys106Tyr)	single nucleotide variant	not provided [RCV001587705]	Chr16:70517678 [GRCh38] Chr16:70551581 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1482-25T>C	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001581181]\|Microcephalic osteodysplastic dysplasia, Saul-Wilson type [RCV001581182]\|not provided [RCV001536997]	Chr16:70496456 [GRCh38] Chr16:70530359 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1196-123T>C	single nucleotide variant	not provided [RCV001779766]	Chr16:70498178 [GRCh38] Chr16:70532081 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.369+213G>T	single nucleotide variant	not provided [RCV001762902]	Chr16:70517413 [GRCh38] Chr16:70551316 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.1468G>A (p.Glu490Lys)	single nucleotide variant	not provided [RCV001767578]	Chr16:70497234 [GRCh38] Chr16:70531137 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2084T>C (p.Val695Ala)	single nucleotide variant	not provided [RCV003238011]	Chr16:70481786 [GRCh38] Chr16:70515689 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.490C>T (p.Arg164Cys)	single nucleotide variant	Microcephalic osteodysplastic dysplasia, Saul-Wilson type [RCV001787305]\|not provided [RCV003487784]	Chr16:70514389 [GRCh38] Chr16:70548292 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1314+38C>T	single nucleotide variant	not provided [RCV001779912]	Chr16:70497899 [GRCh38] Chr16:70531802 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1920+242C>T	single nucleotide variant	not provided [RCV001762903]	Chr16:70482487 [GRCh38] Chr16:70516390 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.369+182A>T	single nucleotide variant	not provided [RCV001762901]	Chr16:70517444 [GRCh38] Chr16:70551347 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.2216C>T (p.Thr739Ile)	single nucleotide variant	not provided [RCV001765439]	Chr16:70481378 [GRCh38] Chr16:70515281 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1517C>T (p.Pro506Leu)	single nucleotide variant	not provided [RCV001774496]	Chr16:70496396 [GRCh38] Chr16:70530299 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.544+40T>C	single nucleotide variant	not provided [RCV001779600]	Chr16:70514295 [GRCh38] Chr16:70548198 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.200T>G (p.Leu67Arg)	single nucleotide variant	not provided [RCV001758277]	Chr16:70519703 [GRCh38] Chr16:70553606 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_69680960)_(72146396_?)dup	duplication	Immunodeficiency [RCV001950695]	Chr16:69680960..72146396 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
NM_015386.3(COG4):c.379T>C (p.Tyr127His)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002005718]	Chr16:70514500 [GRCh38] Chr16:70548403 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1-22.2(chr16:70273406-70960990)	copy number gain	not specified [RCV002052535]	Chr16:70273406..70960990 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
NM_015386.3(COG4):c.349C>T (p.Arg117Cys)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002039654]	Chr16:70517646 [GRCh38] Chr16:70551549 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1838C>T (p.Thr613Met)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001895229]	Chr16:70482811 [GRCh38] Chr16:70516714 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.544+1G>T	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002021735]	Chr16:70514334 [GRCh38] Chr16:70548237 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_015386.3(COG4):c.1816G>C (p.Asp606His)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002006602]	Chr16:70483864 [GRCh38] Chr16:70517767 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1-22.2(chr16:70272361-70983737)x1	copy number loss	not provided [RCV001834260]	Chr16:70272361..70983737 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
NM_015386.3(COG4):c.2026T>C (p.Tyr676His)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001837187]	Chr16:70481844 [GRCh38] Chr16:70515747 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.35C>T (p.Pro12Leu)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001872546]	Chr16:70523509 [GRCh38] Chr16:70557412 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1202A>G (p.Gln401Arg)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001927787]	Chr16:70498049 [GRCh38] Chr16:70531952 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1(chr16:70024576-70673886)	copy number gain	not specified [RCV002052534]	Chr16:70024576..70673886 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.883G>T (p.Glu295Ter)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001962877]	Chr16:70509350 [GRCh38] Chr16:70543253 [GRCh37] Chr16:16q22.1	pathogenic
NM_015386.3(COG4):c.1624G>T (p.Asp542Tyr)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001961998]	Chr16:70496289 [GRCh38] Chr16:70530192 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.233T>C (p.Met78Thr)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002038208]	Chr16:70519670 [GRCh38] Chr16:70553573 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1124G>A (p.Arg375His)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001962076]	Chr16:70501029 [GRCh38] Chr16:70534932 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2114G>C (p.Gly705Ala)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001905089]	Chr16:70481480 [GRCh38] Chr16:70515383 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.151G>C (p.Glu51Gln)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001906568]	Chr16:70523393 [GRCh38] Chr16:70557296 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2358G>C (p.Arg786Ser)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001973343]\|not provided [RCV003408030]	Chr16:70481022 [GRCh38] Chr16:70514925 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.593G>A (p.Arg198His)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002049969]\|Inborn genetic diseases [RCV002545296]	Chr16:70512384 [GRCh38] Chr16:70546287 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.863A>G (p.Glu288Gly)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002050331]	Chr16:70509370 [GRCh38] Chr16:70543273 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_66545871)_(72146396_?)dup	duplication	Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]\|Immunodeficiency [RCV001900385]\|not provided [RCV001900386]	Chr16:66545871..72146396 [GRCh37] Chr16:16q21-22.2	uncertain significance
NM_015386.3(COG4):c.1464G>T (p.Glu488Asp)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001924629]	Chr16:70497238 [GRCh38] Chr16:70531141 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2104C>T (p.Arg702Trp)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001876822]	Chr16:70481766 [GRCh38] Chr16:70515669 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.496T>G (p.Leu166Val)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001955283]	Chr16:70514383 [GRCh38] Chr16:70548286 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1482-7C>G	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001916369]	Chr16:70496438 [GRCh38] Chr16:70530341 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1054G>A (p.Glu352Lys)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001905810]\|Inborn genetic diseases [RCV002552948]	Chr16:70508413 [GRCh38] Chr16:70542316 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1875G>T (p.Gln625His)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV001980776]	Chr16:70482774 [GRCh38] Chr16:70516677 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.172-14T>A	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002092420]	Chr16:70519745 [GRCh38] Chr16:70553648 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1314+15G>A	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002109856]	Chr16:70497922 [GRCh38] Chr16:70531825 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.2107-18G>A	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002174184]	Chr16:70481505 [GRCh38] Chr16:70515408 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1648-12C>T	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002093571]	Chr16:70490404 [GRCh38] Chr16:70524307 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1648-9A>C	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002093017]	Chr16:70490401 [GRCh38] Chr16:70524304 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.2247C>A (p.Ile749=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002158978]\|COG4-related condition [RCV003951290]\|not provided [RCV002292688]	Chr16:70481133 [GRCh38] Chr16:70515036 [GRCh37] Chr16:16q22.1	likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	copy number gain	not provided [RCV002221458]	Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
NM_015386.3(COG4):c.811A>G (p.Ile271Val)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002103843]\|COG4-congenital disorder of glycosylation [RCV002486874]	Chr16:70509949 [GRCh38] Chr16:70543852 [GRCh37] Chr16:16q22.1	likely benign
NC_000016.9:g.(?_70497094)_(70557446_?)dup	duplication	not provided [RCV003113656]	Chr16:70497094..70557446 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_70497094)_(70834803_?)dup	duplication	not provided [RCV003119866]	Chr16:70497094..70834803 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
NC_000016.9:g.(?_65821800)_(72146396_?)del	deletion	Dyskeratosis congenita, autosomal dominant 6 [RCV003122496]	Chr16:65821800..72146396 [GRCh37] Chr16:16q21-22.2	uncertain significance
NM_015386.3(COG4):c.1169C>T (p.Ser390Phe)	single nucleotide variant	not provided [RCV003145084]	Chr16:70500984 [GRCh38] Chr16:70534887 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.793G>A (p.Asp265Asn)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003148376]	Chr16:70509967 [GRCh38] Chr16:70543870 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.727C>T (p.Leu243Phe)	single nucleotide variant	not provided [RCV002474245]	Chr16:70512250 [GRCh38] Chr16:70546153 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.844+1G>A	single nucleotide variant	not provided [RCV003156505]	Chr16:70509915 [GRCh38] Chr16:70543818 [GRCh37] Chr16:16q22.1	pathogenic
NM_015386.3(COG4):c.2095A>G (p.Thr699Ala)	single nucleotide variant	not provided [RCV002469554]	Chr16:70481775 [GRCh38] Chr16:70515678 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1948G>C (p.Asp650His)	single nucleotide variant	not provided [RCV002469653]	Chr16:70482148 [GRCh38] Chr16:70516051 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.536G>A (p.Gly179Asp)	single nucleotide variant	not provided [RCV002306380]	Chr16:70514343 [GRCh38] Chr16:70548246 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.854G>A (p.Arg285His)	single nucleotide variant	not provided [RCV002308990]	Chr16:70509379 [GRCh38] Chr16:70543282 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.853C>T (p.Arg285Cys)	single nucleotide variant	Inborn genetic diseases [RCV002993112]	Chr16:70509380 [GRCh38] Chr16:70543283 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2342G>A (p.Ser781Asn)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002681303]	Chr16:70481038 [GRCh38] Chr16:70514941 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1910A>T (p.Asn637Ile)	single nucleotide variant	Inborn genetic diseases [RCV002729279]	Chr16:70482739 [GRCh38] Chr16:70516642 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.773T>A (p.Val258Glu)	single nucleotide variant	Inborn genetic diseases [RCV002902581]	Chr16:70509987 [GRCh38] Chr16:70543890 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.530G>A (p.Arg177Gln)	single nucleotide variant	Inborn genetic diseases [RCV002771730]	Chr16:70514349 [GRCh38] Chr16:70548252 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.372C>T (p.Asn124=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002755058]	Chr16:70514507 [GRCh38] Chr16:70548410 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.661C>T (p.Arg221Cys)	single nucleotide variant	Inborn genetic diseases [RCV002682708]	Chr16:70512316 [GRCh38] Chr16:70546219 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2287C>T (p.Arg763Cys)	single nucleotide variant	Inborn genetic diseases [RCV002733146]	Chr16:70481093 [GRCh38] Chr16:70514996 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.41T>C (p.Leu14Pro)	single nucleotide variant	Inborn genetic diseases [RCV002689866]	Chr16:70523503 [GRCh38] Chr16:70557406 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2004G>A (p.Lys668=)	single nucleotide variant	Inborn genetic diseases [RCV002773399]	Chr16:70482092 [GRCh38] Chr16:70515995 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2293A>G (p.Thr765Ala)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002640653]\|Inborn genetic diseases [RCV002625112]	Chr16:70481087 [GRCh38] Chr16:70514990 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.169G>A (p.Glu57Lys)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002736771]	Chr16:70523375 [GRCh38] Chr16:70557278 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2150C>T (p.Ala717Val)	single nucleotide variant	Inborn genetic diseases [RCV002758825]	Chr16:70481444 [GRCh38] Chr16:70515347 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1961A>G (p.Gln654Arg)	single nucleotide variant	Inborn genetic diseases [RCV002845112]	Chr16:70482135 [GRCh38] Chr16:70516038 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2224A>G (p.Asn742Asp)	single nucleotide variant	Inborn genetic diseases [RCV002660347]	Chr16:70481370 [GRCh38] Chr16:70515273 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2081T>C (p.Val694Ala)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002979518]	Chr16:70481789 [GRCh38] Chr16:70515692 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2004+10G>A	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002871080]	Chr16:70482082 [GRCh38] Chr16:70515985 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.2282C>T (p.Thr761Met)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002756740]	Chr16:70481098 [GRCh38] Chr16:70515001 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.906A>T (p.Arg302Ser)	single nucleotide variant	Inborn genetic diseases [RCV002706863]	Chr16:70509327 [GRCh38] Chr16:70543230 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.355C>T (p.Leu119Phe)	single nucleotide variant	Inborn genetic diseases [RCV002822211]	Chr16:70517640 [GRCh38] Chr16:70551543 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.327T>C (p.Ala109=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002876812]	Chr16:70517668 [GRCh38] Chr16:70551571 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1978C>T (p.Leu660=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002871864]	Chr16:70482118 [GRCh38] Chr16:70516021 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.370-19G>A	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002624716]	Chr16:70514528 [GRCh38] Chr16:70548431 [GRCh37] Chr16:16q22.1	benign
NM_015386.3(COG4):c.2308C>T (p.Arg770Cys)	single nucleotide variant	Inborn genetic diseases [RCV002713236]	Chr16:70481072 [GRCh38] Chr16:70514975 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.858T>G (p.Ile286Met)	single nucleotide variant	Inborn genetic diseases [RCV002804042]	Chr16:70509375 [GRCh38] Chr16:70543278 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.739-8T>C	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002876615]	Chr16:70510029 [GRCh38] Chr16:70543932 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1663G>A (p.Val555Met)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002894945]\|not provided [RCV003883842]	Chr16:70490377 [GRCh38] Chr16:70524280 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2198G>A (p.Arg733Gln)	single nucleotide variant	Inborn genetic diseases [RCV002983272]	Chr16:70481396 [GRCh38] Chr16:70515299 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.68G>A (p.Gly23Glu)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002982641]	Chr16:70523476 [GRCh38] Chr16:70557379 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_015386.3(COG4):c.1519G>A (p.Ala507Thr)	single nucleotide variant	Inborn genetic diseases [RCV002827601]	Chr16:70496394 [GRCh38] Chr16:70530297 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2120A>G (p.Gln707Arg)	single nucleotide variant	Inborn genetic diseases [RCV002850285]	Chr16:70481474 [GRCh38] Chr16:70515377 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.397G>A (p.Ala133Thr)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002932689]	Chr16:70514482 [GRCh38] Chr16:70548385 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1105C>T (p.Arg369Cys)	single nucleotide variant	Inborn genetic diseases [RCV002712292]	Chr16:70501048 [GRCh38] Chr16:70534951 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2236G>A (p.Val746Met)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003023614]	Chr16:70481144 [GRCh38] Chr16:70515047 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.370A>G (p.Asn124Asp)	single nucleotide variant	Inborn genetic diseases [RCV002767664]	Chr16:70514509 [GRCh38] Chr16:70548412 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.625A>G (p.Ile209Val)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002579119]	Chr16:70512352 [GRCh38] Chr16:70546255 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2363G>A (p.Arg788His)	single nucleotide variant	Inborn genetic diseases [RCV002702986]	Chr16:70481017 [GRCh38] Chr16:70514920 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.722A>G (p.Glu241Gly)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002648159]	Chr16:70512255 [GRCh38] Chr16:70546158 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1561G>A (p.Val521Met)	single nucleotide variant	Inborn genetic diseases [RCV002669134]	Chr16:70496352 [GRCh38] Chr16:70530255 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2029G>A (p.Asp677Asn)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003086735]	Chr16:70481841 [GRCh38] Chr16:70515744 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1142T>G (p.Ile381Ser)	single nucleotide variant	Inborn genetic diseases [RCV002896305]	Chr16:70501011 [GRCh38] Chr16:70534914 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1858A>G (p.Ile620Val)	single nucleotide variant	Inborn genetic diseases [RCV002722549]	Chr16:70482791 [GRCh38] Chr16:70516694 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1647+13C>T	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002944129]	Chr16:70496253 [GRCh38] Chr16:70530156 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1950C>T (p.Asp650=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002607340]	Chr16:70482146 [GRCh38] Chr16:70516049 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.796C>T (p.Arg266Trp)	single nucleotide variant	Inborn genetic diseases [RCV002677483]	Chr16:70509964 [GRCh38] Chr16:70543867 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.172-11C>T	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV002612539]	Chr16:70519742 [GRCh38] Chr16:70553645 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1196-7C>G	single nucleotide variant	not provided [RCV003145085]	Chr16:70498062 [GRCh38] Chr16:70531965 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2162C>A (p.Thr721Lys)	single nucleotide variant	not provided [RCV003145086]	Chr16:70481432 [GRCh38] Chr16:70515335 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.719C>T (p.Ser240Leu)	single nucleotide variant	not provided [RCV003145087]	Chr16:70512258 [GRCh38] Chr16:70546161 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.202_203del (p.Leu68fs)	deletion	not provided [RCV003145088]	Chr16:70519700..70519701 [GRCh38] Chr16:70553603..70553604 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1310A>G (p.Asn437Ser)	single nucleotide variant	not provided [RCV003145089]	Chr16:70497941 [GRCh38] Chr16:70531844 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.53A>G (p.Gln18Arg)	single nucleotide variant	not provided [RCV003225386]	Chr16:70523491 [GRCh38] Chr16:70557394 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.380A>G (p.Tyr127Cys)	single nucleotide variant	Inborn genetic diseases [RCV003197562]	Chr16:70514499 [GRCh38] Chr16:70548402 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.629C>T (p.Ala210Val)	single nucleotide variant	not provided [RCV003318797]	Chr16:70512348 [GRCh38] Chr16:70546251 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.665T>C (p.Phe222Ser)	single nucleotide variant	not provided [RCV003329866]	Chr16:70512312 [GRCh38] Chr16:70546215 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.61T>C (p.Ser21Pro)	single nucleotide variant	not provided [RCV003329853]	Chr16:70523483 [GRCh38] Chr16:70557386 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.137T>C (p.Leu46Pro)	single nucleotide variant	Inborn genetic diseases [RCV003343353]	Chr16:70523407 [GRCh38] Chr16:70557310 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.451A>G (p.Arg151Gly)	single nucleotide variant	Inborn genetic diseases [RCV003346872]	Chr16:70514428 [GRCh38] Chr16:70548331 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2141C>T (p.Ser714Leu)	single nucleotide variant	Inborn genetic diseases [RCV003386716]	Chr16:70481453 [GRCh38] Chr16:70515356 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1720A>T (p.Thr574Ser)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003504446]	Chr16:70483960 [GRCh38] Chr16:70517863 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.619T>C (p.Phe207Leu)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003504135]	Chr16:70512358 [GRCh38] Chr16:70546261 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.510G>A (p.Lys170=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003504152]	Chr16:70514369 [GRCh38] Chr16:70548272 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1002+13A>G	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003502915]	Chr16:70509218 [GRCh38] Chr16:70543121 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.265C>A (p.Gln89Lys)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003502960]	Chr16:70517730 [GRCh38] Chr16:70551633 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1295T>C (p.Met432Thr)	single nucleotide variant	not provided [RCV003419392]	Chr16:70497956 [GRCh38] Chr16:70531859 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	copy number loss	not provided [RCV003483292]	Chr16:69709450..73535741 [GRCh37] Chr16:16q22.1-22.3	pathogenic
NM_015386.3(COG4):c.2332G>C (p.Asp778His)	single nucleotide variant	COG4-related condition [RCV003397510]	Chr16:70481048 [GRCh38] Chr16:70514951 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1-22.2(chr16:70179556-71750471)x3	copy number gain	not provided [RCV003485119]	Chr16:70179556..71750471 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
GRCh37/hg19 16q22.1(chr16:70305107-70594202)x3	copy number gain	not provided [RCV003485120]	Chr16:70305107..70594202 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.149A>T (p.Tyr50Phe)	single nucleotide variant	COG4-related condition [RCV003393181]	Chr16:70523395 [GRCh38] Chr16:70557298 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1051dup (p.Ile351fs)	duplication	not provided [RCV003411387]	Chr16:70508415..70508416 [GRCh38] Chr16:70542318..70542319 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.2314del (p.Val772fs)	deletion	COG4-related condition [RCV003405928]	Chr16:70481066 [GRCh38] Chr16:70514969 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.254G>A (p.Gly85Asp)	single nucleotide variant	COG4-related condition [RCV003410531]	Chr16:70519649 [GRCh38] Chr16:70553552 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.31C>T (p.Pro11Ser)	single nucleotide variant	not provided [RCV003426759]	Chr16:70523513 [GRCh38] Chr16:70557416 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.946A>C (p.Arg316=)	single nucleotide variant	not provided [RCV003490589]	Chr16:70509287 [GRCh38] Chr16:70543190 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1608del (p.Gly537fs)	deletion	COG4-congenital disorder of glycosylation [RCV003609928]	Chr16:70496305 [GRCh38] Chr16:70530208 [GRCh37] Chr16:16q22.1	pathogenic
NM_015386.3(COG4):c.1839G>C (p.Thr613=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003609048]	Chr16:70482810 [GRCh38] Chr16:70516713 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.2106+4A>G	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003609496]	Chr16:70481760 [GRCh38] Chr16:70515663 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.310T>G (p.Phe104Val)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003609318]	Chr16:70517685 [GRCh38] Chr16:70551588 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.484_485inv (p.Thr162Val)	inversion	COG4-congenital disorder of glycosylation [RCV003610653]	Chr16:70514394..70514395 [GRCh38] Chr16:70548297..70548298 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1064A>T (p.Glu355Val)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003610916]	Chr16:70501089 [GRCh38] Chr16:70534992 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.369G>A (p.Lys123=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003502185]	Chr16:70517626 [GRCh38] Chr16:70551529 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.897G>T (p.Gly299=)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003610685]	Chr16:70509336 [GRCh38] Chr16:70543239 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.2076G>T (p.Glu692Asp)	single nucleotide variant	COG4-congenital disorder of glycosylation [RCV003610565]	Chr16:70481794 [GRCh38] Chr16:70515697 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1(chr16:70180112-70650383)x3	copy number gain	not specified [RCV003987187]	Chr16:70180112..70650383 [GRCh37] Chr16:16q22.1	uncertain significance
NM_015386.3(COG4):c.1545C>T (p.Arg515=)	single nucleotide variant	COG4-related condition [RCV003947276]	Chr16:70496368 [GRCh38] Chr16:70530271 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1722C>G (p.Thr574=)	single nucleotide variant	COG4-related condition [RCV003923837]	Chr16:70483958 [GRCh38] Chr16:70517861 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.545-4G>A	single nucleotide variant	COG4-related condition [RCV003964079]	Chr16:70512436 [GRCh38] Chr16:70546339 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.21C>T (p.Asp7=)	single nucleotide variant	COG4-related condition [RCV003968914]	Chr16:70523523 [GRCh38] Chr16:70557426 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.1617G>A (p.Glu539=)	single nucleotide variant	COG4-related condition [RCV003943898]	Chr16:70496296 [GRCh38] Chr16:70530199 [GRCh37] Chr16:16q22.1	likely benign
NM_015386.3(COG4):c.60G>C (p.Pro20=)	single nucleotide variant	COG4-related condition [RCV003911594]	Chr16:70523484 [GRCh38] Chr16:70557387 [GRCh37] Chr16:16q22.1	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	4129
Count of miRNA genes:	1050
Interacting mature miRNAs:	1312
Transcripts:	ENST00000323786, ENST00000393612, ENST00000482252, ENST00000524584, ENST00000526700, ENST00000530160, ENST00000530314, ENST00000534772, ENST00000562200, ENST00000564315, ENST00000564415, ENST00000564653, ENST00000565715, ENST00000567244
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

STS-T95317

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	70,533,103 - 70,533,352	UniSTS	GRCh37
Build 36	16	69,090,604 - 69,090,853	RGD	NCBI36
Celera	16	54,994,788 - 54,995,037	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	56,364,572 - 56,364,821	UniSTS
GeneMap99-GB4 RH Map	16	411.68	UniSTS

SHGC-33776

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	70,533,103 - 70,533,252	UniSTS	GRCh37
Build 36	16	69,090,604 - 69,090,753	RGD	NCBI36
Celera	16	54,994,888 - 54,995,037	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	56,364,572 - 56,364,721	UniSTS
GeneMap99-G3 RH Map	16	3200.0	UniSTS

RH64977

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	70,533,183 - 70,533,357	UniSTS	GRCh37
Build 36	16	69,090,684 - 69,090,858	RGD	NCBI36
Celera	16	54,994,783 - 54,994,957	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	56,364,652 - 56,364,826	UniSTS

RH64922

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	70,514,504 - 70,514,685	UniSTS	GRCh37
Build 36	16	69,072,005 - 69,072,186	RGD	NCBI36
Celera	16	55,013,608 - 55,013,789	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	56,346,620 - 56,346,801	UniSTS

D16S2587E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	70,514,511 - 70,514,624	UniSTS	GRCh37
Build 36	16	69,072,012 - 69,072,125	RGD	NCBI36
Celera	16	55,013,669 - 55,013,782	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	56,346,627 - 56,346,740	UniSTS

SHGC-147852

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	70,515,079 - 70,515,362	UniSTS	GRCh37
Build 36	16	69,072,580 - 69,072,863	RGD	NCBI36
Celera	16	55,012,931 - 55,013,214	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	56,347,195 - 56,347,478	UniSTS

STS-T86956

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	70,514,496 - 70,514,691	UniSTS	GRCh37
Build 36	16	69,071,997 - 69,072,192	RGD	NCBI36
Celera	16	55,013,602 - 55,013,797	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	56,346,612 - 56,346,807	UniSTS
GeneMap99-GB4 RH Map	16	410.32	UniSTS

D16S2583E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	70,514,027 - 70,514,139	UniSTS	GRCh37
Build 36	16	69,071,528 - 69,071,640	RGD	NCBI36
Celera	16	55,014,154 - 55,014,266	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	56,346,143 - 56,346,255	UniSTS
GeneMap99-GB4 RH Map	16	425.4	UniSTS

COG4_4609

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	70,514,390 - 70,515,041	UniSTS	GRCh37
Build 36	16	69,071,891 - 69,072,542	RGD	NCBI36
Celera	16	55,013,252 - 55,013,903	RGD
HuRef	16	56,346,506 - 56,347,157	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2433

2753

1694

594

1827

436

4357

2099

3557

413

1460

1611

175

1204

2788

Low

238

124

177

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_027529	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001195139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001365426	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_015386	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_158212	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024450224	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001751889	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_933267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB088369	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC106804	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022874	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK096557	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293235	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297557	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL050101	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AU125729	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000796	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006306	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013347	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC027726	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC072438	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC128144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC128145	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP282697	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX648010	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471241	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000323786 ⟹ ENSP00000315775

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,571 - 70,523,554 (-)	Ensembl

RefSeq Acc Id:

ENST00000393612 ⟹ ENSP00000377236

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,572 - 70,523,554 (-)	Ensembl

RefSeq Acc Id:

ENST00000482252 ⟹ ENSP00000432802

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,574 - 70,523,531 (-)	Ensembl

RefSeq Acc Id:

ENST00000524584 ⟹ ENSP00000463732

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,512,374 - 70,523,518 (-)	Ensembl

RefSeq Acc Id:

ENST00000526700

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,578 - 70,508,757 (-)	Ensembl

RefSeq Acc Id:

ENST00000530160 ⟹ ENSP00000434160

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,512,319 - 70,523,554 (-)	Ensembl

RefSeq Acc Id:

ENST00000530314

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,571 - 70,523,539 (-)	Ensembl

RefSeq Acc Id:

ENST00000534772 ⟹ ENSP00000461912

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,642 - 70,523,550 (-)	Ensembl

RefSeq Acc Id:

ENST00000562200

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,509,872 - 70,523,540 (-)	Ensembl

RefSeq Acc Id:

ENST00000564315

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,482,380 - 70,496,372 (-)	Ensembl

RefSeq Acc Id:

ENST00000564415 ⟹ ENSP00000456653

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,568 - 70,523,558 (-)	Ensembl

RefSeq Acc Id:

ENST00000564653 ⟹ ENSP00000454573

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,512,267 - 70,523,550 (-)	Ensembl

RefSeq Acc Id:

ENST00000565715 ⟹ ENSP00000455693

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,867 - 70,482,794 (-)	Ensembl

RefSeq Acc Id:

ENST00000567244

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,497,973 - 70,501,597 (-)	Ensembl

RefSeq Acc Id:

ENST00000674443 ⟹ ENSP00000501405

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,573 - 70,523,560 (-)	Ensembl

RefSeq Acc Id:

ENST00000703106 ⟹ ENSP00000515173

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,581 - 70,523,492 (-)	Ensembl

RefSeq Acc Id:

ENST00000703107 ⟹ ENSP00000515174

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,582 - 70,523,545 (-)	Ensembl

RefSeq Acc Id:

ENST00000703108 ⟹ ENSP00000515175

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,588 - 70,523,558 (-)	Ensembl

RefSeq Acc Id:

ENST00000703109 ⟹ ENSP00000515176

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,594 - 70,523,450 (-)	Ensembl

RefSeq Acc Id:

ENST00000703110 ⟹ ENSP00000515177

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,607 - 70,523,541 (-)	Ensembl

RefSeq Acc Id:

ENST00000703111

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,615 - 70,523,550 (-)	Ensembl

RefSeq Acc Id:

ENST00000703112

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,748 - 70,523,550 (-)	Ensembl

RefSeq Acc Id:

ENST00000703113 ⟹ ENSP00000515178

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,845 - 70,523,554 (-)	Ensembl

RefSeq Acc Id:

ENST00000703114 ⟹ ENSP00000515179

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,859 - 70,523,550 (-)	Ensembl

RefSeq Acc Id:

ENST00000703115 ⟹ ENSP00000515180

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,480,969 - 70,523,399 (-)	Ensembl

RefSeq Acc Id:

NM_001195139 ⟹ NP_001182068

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	70,480,567 - 70,523,554 (-)	NCBI
GRCh37	16	70,514,472 - 70,557,457 (-)	ENTREZGENE
HuRef	16	56,346,588 - 56,388,520 (-)	ENTREZGENE
CHM1_1	16	71,921,846 - 71,964,791 (-)	NCBI
T2T-CHM13v2.0	16	76,291,598 - 76,334,735 (-)	NCBI

Sequence:

show sequence

GGAAGTGCCGAATGGGGACCAAGATGGCGGACCTTGATTCGCCTCCGAAGCTGTCAGGGGTGCA
GCAGCCGTCTGAGGGGGTGGGAGGTGGCCGCTGCTCCGAAATCTCCGCTGAGCTCATTCGCTCC
CTGACAGAGCTGCAGGAGCTGGAGGCTGTATACGAACGGCTCTGCGGCGAGGAGAAAGTGGTGG
AGAGAGAGCTGGATGCTCTTTTGGAACAGCAAAACACCATTGAAAGTAAGATGGTCACTCTCCA
CCGAATGGGTCCTAATCTGCAGCTGATTGAGGGAGATGCAAAGCAGCTGGCTGGAATGATCACC
TTTACCTGCAACCTGGCTGAGAATGTGTCCAGCAAAGTTCGTCAGCTTGACCTGGCCAAGAACC
GCCTCTATCAGGCCATTCAGAGAGCTGATGACATCTTGGACCTGAAGTTCTGCATGGATGGAGT
TCAGACTGCTTTGAGGAGTGAAGATTATGAGCAGGCTGCAGCACATACTCATCGCTACTTGTGC
CTGGACAAGTCGGTCATTGAGCTCAGCCGACAGGGCAAAGAGGGGAGCATGATTGATGCCAACC
TGAAATTGCTGCAGGAAGCTGAGCAACGTCTCAAAGCCATTGTGGCAGAGAAGTTTGCCATTGC
CACCAAGGAAGGTGATCTGCCCCAGGTGGAGCGCTTCTTCAAGATCTTCCCACTGCTGGGTTTG
CATGAGGAGGGATTAAGAAAGTTCTCGGAGTACCTTTGCAAGCAGGTGGCCAGTAAAGCTGAGG
AGAATCTGCTCATGGTGCTGGGGACAGACATGAGTGATCGGAGAGCTGCAGTCATCTTTGCAGA
TACACTTACTCTTCTGTTTGAAGGGATTGCCCGCATTGTGGAGACCCACCAGCCAATAGTGGAG
ACCTATTATGGGCCAGGGAGACTCTATACCCTGATCAAATATCTGCAGGTGGAATGTGACAGAC
AGGTGGAGAAGGTGGTAGACAAGTTCATCAAGCAAAGGGACTACCACCAGCAGTTCCGGCATGT
TCAGAACAACCTGATGAGAAATTCTACAACAGAAAAAATCGAACCAAGAGAACTGGACCCCATC
CTGACTGAGGTCACCCTGATGAATGCCCGCAGTGAGCTATACTTACGCTTCCTCAAGAAGAGGA
TTAGCTCTGATTTTGAGGTGGGAGACTCCATGGCCTCAGAGGAAGTAAAGCAAGAGCACCAGAA
GTGTCTGGACAAACTCCTCAATAACTGCCTTTTGAGCTGTACCATGCAGGAGCTAATTGGCTTA
TATGTTACCATGGAGGAGTACTTCATGAGGGAGACTGTCAATAAGGCTGTGGCTCTGGACACCT
ATGAGAAGGGCCAGCTGACATCCAGCATGGTGGATGATGTCTTCTACATTGTTAAGAAGTGCAT
TGGGCGGGCTCTGTCCAGCTCCAGCATTGACTGTCTCTGTGCCATGATCAACCTCGCCACCACA
GAGCTGGAGTCTGACTTCAGGGATGTTCTGTGTAATAAGCTGCGGATGGGCTTTCCTGCCACCA
CCTTCCAGGACATCCAGCGCGGGGTGACAAGTGCCGTGAACATCATGCACAGCAGCCTCCAGCA
AGGCAAATTTGACACAAAAGGCATCGAGAGTACTGACGAGGCGAAGATGTCCTTCCTGAGTGAC
TGCACCAAGCTCTTCAGCCAGGGCATTGGAGGGGAGCAGGCCCAGGCCAAGTTTGACAGCTGCC
TTTCTGACTTGGCCGCCGTGTCCAACAAATTCCGAGACCTCTTGCAGGAAGGGCTGACGGAGCT
CAACAGCACAGCCATCAAGCCACAGGTGCAGCCTTGGATCAACAGCTTTTTCTCCGTCTCCCAC
AACATCGAGGAGGAAGAATTCAATGACTATGAGGCCAACGACCCTTGGGTACAACAGTTCATCC
TTAACCTGGAGCAGCAAATGGCAGAGTTCAAGGCCAGCCTGTCCCCGGTCATCTACGACAGCCT
AACCGGCCTCATGACTAGCCTTGTTGCCGTCGAGTTGGAGAAAGTGGTGCTGAAATCCACCTTT
AACCGGCTGGGTGGTCTGCAGTTTGACAAGGAGCTGAGGTCGCTCATTGCCTACCTTACCACGG
TGACCACCTGGACCATCCGAGACAAGTTTGCCCGGCTCTCCCAGATGGCCACCATCCTCAATCT
GGAGCGGGTGACCGAGATCCTCGATTACTGGGGACCCAATTCCGGCCCATTGACGTGGCGCCTC
ACCCCTGCTGAAGTGCGCCAGGTGCTGGCCCTGCGGATAGACTTCCGCAGTGAAGATATCAAGA
GGCTGCGCCTGTAGCTGCCTGGATGAGCACACCTGGCTCATCACACTTGCAGGCCTGTTCCCTA
AGGGGCCCCAGCCAAGGAGCTGAGCGAGGCTGTCTGGCTTGGGGGAGATCTGACAGCCCAGACC
TTTCTACGGCTGGCAGCAGAGAAACAAAGTCTGGACCCACTCCATGCTCTGCCCTCAGACCTGG
CCAGGTGATGCTCTGGGGGCAGCATCTCCCCACCGAGAGAAGCGGGCTCCTAATGAGGTGGGAA
AGCCACGGCAGGCAGCGAGCAGCCCAGGCCAGCTTTCTGCATGGATGGTCAGTCTCTTGCCCTC
AAACACTACAGCAAACAAGCTACCCCTGCCAGTCCTAGACAACTTGGGTACATCTGGGGACCTA
GCAGTTAGGCTTGACTTTGAGGAGAGGCTGTGATGTTTATGATCCCTGAATAAAGCTACTCCTT
GGAGAGATG

hide sequence

RefSeq Acc Id:

NM_001365426 ⟹ NP_001352355

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	70,480,567 - 70,523,554 (-)	NCBI
T2T-CHM13v2.0	16	76,291,598 - 76,334,735 (-)	NCBI

Sequence:

show sequence

GGAAGTGCCGAATGGGGACCAAGATGGCGGACCTTGATTCGCCTCCGAAGCTGTCAGGGGTGCA
GCAGCCGTCTGAGGGGGTGGGAGGTGGCCGCTGCTCCGAAATCTCCGCTGAGCTCATTCGCTCC
CTGACAGAGCTGCAGGAGCTGGAGGCTGTATACGAACGGCTCTGCGGCGAGGAGAAAGTGGTGG
AGAGAGAGCTGGATGCTCTTTTGGAACAGCAAAACACCATTGAAAGTAAGATGGTCACTCTCCA
CCGAATGGGTCCTAATCTGCAGCTGATTGAGGGAGATGCAAAGCAGCTGGCTGGAATGATCACC
TTTACCTGCAACCTGGCTGAGAATGTGTCCAGCAAAGTTCGTCAGCTTGACCTGGCCAAGAAAC
ACTCAACAAATTTGGAATAGAGGGGAACTTCTCAGCCTGATAAAGAGCATCTGTGAAAAACCAC
AGCTGGCCAGGTGTGGTGGCTCATGCCTGCAATCCTAACACTTTGGGAGACCAAAGCAGTAGGA
TCTCTTGAGGCCAGAAGTTGGAGACCAAACCTTGGAACACAAACCGCCTCTATCAGGCCATTCA
GAGAGCTGATGACATCTTGGACCTGAAGTTCTGCATGGATGGAGTTCAGACTGCTTTGAGGAGT
GAAGATTATGAGCAGGCTGCAGCACATACTCATCGCTACTTGTGCCTGGACAAGTCGGTCATTG
AGCTCAGCCGACAGGGCAAAGAGGGGAGCATGATTGATGCCAACCTGAAATTGCTGCAGGAAGC
TGAGCAACGTCTCAAAGCCATTGTGGCAGAGAAGTTTGCCATTGCCACCAAGGAAGGTGATCTG
CCCCAGGTGGAGCGCTTCTTCAAGATCTTCCCACTGCTGGGTTTGCATGAGGAGGGATTAAGAA
AGTTCTCGGAGTACCTTTGCAAGCAGGTGGCCAGTAAAGCTGAGGAGAATCTGCTCATGGTGCT
GGGGACAGACATGAGTGATCGGAGAGCTGCAGTCATCTTTGCAGATACACTTACTCTTCTGTTT
GAAGGGATTGCCCGCATTGTGGAGACCCACCAGCCAATAGTGGAGACCTATTATGGGCCAGGGA
GACTCTATACCCTGATCAAATATCTGCAGGTGGAATGTGACAGACAGGTGGAGAAGGTGGTAGA
CAAGTTCATCAAGCAAAGGGACTACCACCAGCAGTTCCGGCATGTTCAGAACAACCTGATGAGA
AATTCTACAACAGAAAAAATCGAACCAAGAGAACTGGACCCCATCCTGACTGAGGTCACCCTGA
TGAATGCCCGCAGTGAGCTATACTTACGCTTCCTCAAGAAGAGGATTAGCTCTGATTTTGAGGT
GGGAGACTCCATGGCCTCAGAGGAAGTAAAGCAAGAGCACCAGAAGTGTCTGGACAAACTCCTC
AATAACTGCCTTTTGAGCTGTACCATGCAGGAGCTAATTGGCTTATATGTTACCATGGAGGAGT
ACTTCATGAGGGAGACTGTCAATAAGGCTGTGGCTCTGGACACCTATGAGAAGGGCCAGCTGAC
ATCCAGCATGGTGGATGATGTCTTCTACATTGTTAAGAAGTGCATTGGGCGGGCTCTGTCCAGC
TCCAGCATTGACTGTCTCTGTGCCATGATCAACCTCGCCACCACAGAGCTGGAGTCTGACTTCA
GGGATGTTCTGTGTAATAAGCTGCGGATGGGCTTTCCTGCCACCACCTTCCAGGACATCCAGCG
CGGGGTGACAAGTGCCGTGAACATCATGCACAGCAGCCTCCAGCAAGGCAAATTTGACACAAAA
GGCATCGAGAGTACTGACGAGGCGAAGATGTCCTTCCTGGTGACTCTGAACAACGTGGAAGTCT
GCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGAGTGACTGCACCAAGCTCTTCAGCCA
GGGCATTGGAGGGGAGCAGGCCCAGGCCAAGTTTGACAGCTGCCTTTCTGACTTGGCCGCCGTG
TCCAACAAATTCCGAGACCTCTTGCAGGAAGGGCTGACGGAGCTCAACAGCACAGCCATCAAGC
CACAGGTGCAGCCTTGGATCAACAGCTTTTTCTCCGTCTCCCACAACATCGAGGAGGAAGAATT
CAATGACTATGAGGCCAACGACCCTTGGGTACAACAGTTCATCCTTAACCTGGAGCAGCAAATG
GCAGAGTTCAAGGCCAGCCTGTCCCCGGTCATCTACGACAGCCTAACCGGCCTCATGACTAGCC
TTGTTGCCGTCGAGTTGGAGAAAGTGGTGCTGAAATCCACCTTTAACCGGCTGGGTGGTCTGCA
GTTTGACAAGGAGCTGAGGTCGCTCATTGCCTACCTTACCACGGTGACCACCTGGACCATCCGA
GACAAGTTTGCCCGGCTCTCCCAGATGGCCACCATCCTCAATCTGGAGCGGGTGACCGAGATCC
TCGATTACTGGGGACCCAATTCCGGCCCATTGACGTGGCGCCTCACCCCTGCTGAAGTGCGCCA
GGTGCTGGCCCTGCGGATAGACTTCCGCAGTGAAGATATCAAGAGGCTGCGCCTGTAGCTGCCT
GGATGAGCACACCTGGCTCATCACACTTGCAGGCCTGTTCCCTAAGGGGCCCCAGCCAAGGAGC
TGAGCGAGGCTGTCTGGCTTGGGGGAGATCTGACAGCCCAGACCTTTCTACGGCTGGCAGCAGA
GAAACAAAGTCTGGACCCACTCCATGCTCTGCCCTCAGACCTGGCCAGGTGATGCTCTGGGGGC
AGCATCTCCCCACCGAGAGAAGCGGGCTCCTAATGAGGTGGGAAAGCCACGGCAGGCAGCGAGC
AGCCCAGGCCAGCTTTCTGCATGGATGGTCAGTCTCTTGCCCTCAAACACTACAGCAAACAAGC
TACCCCTGCCAGTCCTAGACAACTTGGGTACATCTGGGGACCTAGCAGTTAGGCTTGACTTTGA
GGAGAGGCTGTGATGTTTATGATCCCTGAATAAAGCTACTCCTTGGAGAGATG

hide sequence

RefSeq Acc Id:

NM_015386 ⟹ NP_056201

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	70,480,571 - 70,523,554 (-)	NCBI
GRCh37	16	70,514,472 - 70,557,457 (-)	RGD
Build 36	16	69,071,973 - 69,114,958 (-)	NCBI Archive
Celera	16	54,970,686 - 55,013,821 (+)	RGD
HuRef	16	56,346,588 - 56,388,520 (-)	ENTREZGENE
CHM1_1	16	71,921,846 - 71,964,791 (-)	NCBI
T2T-CHM13v2.0	16	76,291,602 - 76,334,735 (-)	NCBI

Sequence:

show sequence

GGAAGTGCCGAATGGGGACCAAGATGGCGGACCTTGATTCGCCTCCGAAGCTGTCAGGGGTGCA
GCAGCCGTCTGAGGGGGTGGGAGGTGGCCGCTGCTCCGAAATCTCCGCTGAGCTCATTCGCTCC
CTGACAGAGCTGCAGGAGCTGGAGGCTGTATACGAACGGCTCTGCGGCGAGGAGAAAGTGGTGG
AGAGAGAGCTGGATGCTCTTTTGGAACAGCAAAACACCATTGAAAGTAAGATGGTCACTCTCCA
CCGAATGGGTCCTAATCTGCAGCTGATTGAGGGAGATGCAAAGCAGCTGGCTGGAATGATCACC
TTTACCTGCAACCTGGCTGAGAATGTGTCCAGCAAAGTTCGTCAGCTTGACCTGGCCAAGAACC
GCCTCTATCAGGCCATTCAGAGAGCTGATGACATCTTGGACCTGAAGTTCTGCATGGATGGAGT
TCAGACTGCTTTGAGGAGTGAAGATTATGAGCAGGCTGCAGCACATACTCATCGCTACTTGTGC
CTGGACAAGTCGGTCATTGAGCTCAGCCGACAGGGCAAAGAGGGGAGCATGATTGATGCCAACC
TGAAATTGCTGCAGGAAGCTGAGCAACGTCTCAAAGCCATTGTGGCAGAGAAGTTTGCCATTGC
CACCAAGGAAGGTGATCTGCCCCAGGTGGAGCGCTTCTTCAAGATCTTCCCACTGCTGGGTTTG
CATGAGGAGGGATTAAGAAAGTTCTCGGAGTACCTTTGCAAGCAGGTGGCCAGTAAAGCTGAGG
AGAATCTGCTCATGGTGCTGGGGACAGACATGAGTGATCGGAGAGCTGCAGTCATCTTTGCAGA
TACACTTACTCTTCTGTTTGAAGGGATTGCCCGCATTGTGGAGACCCACCAGCCAATAGTGGAG
ACCTATTATGGGCCAGGGAGACTCTATACCCTGATCAAATATCTGCAGGTGGAATGTGACAGAC
AGGTGGAGAAGGTGGTAGACAAGTTCATCAAGCAAAGGGACTACCACCAGCAGTTCCGGCATGT
TCAGAACAACCTGATGAGAAATTCTACAACAGAAAAAATCGAACCAAGAGAACTGGACCCCATC
CTGACTGAGGTCACCCTGATGAATGCCCGCAGTGAGCTATACTTACGCTTCCTCAAGAAGAGGA
TTAGCTCTGATTTTGAGGTGGGAGACTCCATGGCCTCAGAGGAAGTAAAGCAAGAGCACCAGAA
GTGTCTGGACAAACTCCTCAATAACTGCCTTTTGAGCTGTACCATGCAGGAGCTAATTGGCTTA
TATGTTACCATGGAGGAGTACTTCATGAGGGAGACTGTCAATAAGGCTGTGGCTCTGGACACCT
ATGAGAAGGGCCAGCTGACATCCAGCATGGTGGATGATGTCTTCTACATTGTTAAGAAGTGCAT
TGGGCGGGCTCTGTCCAGCTCCAGCATTGACTGTCTCTGTGCCATGATCAACCTCGCCACCACA
GAGCTGGAGTCTGACTTCAGGGATGTTCTGTGTAATAAGCTGCGGATGGGCTTTCCTGCCACCA
CCTTCCAGGACATCCAGCGCGGGGTGACAAGTGCCGTGAACATCATGCACAGCAGCCTCCAGCA
AGGCAAATTTGACACAAAAGGCATCGAGAGTACTGACGAGGCGAAGATGTCCTTCCTGGTGACT
CTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGAGTGACT
GCACCAAGCTCTTCAGCCAGGGCATTGGAGGGGAGCAGGCCCAGGCCAAGTTTGACAGCTGCCT
TTCTGACTTGGCCGCCGTGTCCAACAAATTCCGAGACCTCTTGCAGGAAGGGCTGACGGAGCTC
AACAGCACAGCCATCAAGCCACAGGTGCAGCCTTGGATCAACAGCTTTTTCTCCGTCTCCCACA
ACATCGAGGAGGAAGAATTCAATGACTATGAGGCCAACGACCCTTGGGTACAACAGTTCATCCT
TAACCTGGAGCAGCAAATGGCAGAGTTCAAGGCCAGCCTGTCCCCGGTCATCTACGACAGCCTA
ACCGGCCTCATGACTAGCCTTGTTGCCGTCGAGTTGGAGAAAGTGGTGCTGAAATCCACCTTTA
ACCGGCTGGGTGGTCTGCAGTTTGACAAGGAGCTGAGGTCGCTCATTGCCTACCTTACCACGGT
GACCACCTGGACCATCCGAGACAAGTTTGCCCGGCTCTCCCAGATGGCCACCATCCTCAATCTG
GAGCGGGTGACCGAGATCCTCGATTACTGGGGACCCAATTCCGGCCCATTGACGTGGCGCCTCA
CCCCTGCTGAAGTGCGCCAGGTGCTGGCCCTGCGGATAGACTTCCGCAGTGAAGATATCAAGAG
GCTGCGCCTGTAGCTGCCTGGATGAGCACACCTGGCTCATCACACTTGCAGGCCTGTTCCCTAA
GGGGCCCCAGCCAAGGAGCTGAGCGAGGCTGTCTGGCTTGGGGGAGATCTGACAGCCCAGACCT
TTCTACGGCTGGCAGCAGAGAAACAAAGTCTGGACCCACTCCATGCTCTGCCCTCAGACCTGGC
CAGGTGATGCTCTGGGGGCAGCATCTCCCCACCGAGAGAAGCGGGCTCCTAATGAGGTGGGAAA
GCCACGGCAGGCAGCGAGCAGCCCAGGCCAGCTTTCTGCATGGATGGTCAGTCTCTTGCCCTCA
AACACTACAGCAAACAAGCTACCCCTGCCAGTCCTAGACAACTTGGGTACATCTGGGGACCTAG
CAGTTAGGCTTGACTTTGAGGAGAGGCTGTGATGTTTATGATCCCTGAATAAAGCTACTCCTTG
GAGA

hide sequence

RefSeq Acc Id:

NR_158212

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	70,480,567 - 70,523,554 (-)	NCBI
T2T-CHM13v2.0	16	76,291,598 - 76,334,735 (-)	NCBI

Sequence:

show sequence

GGAAGTGCCGAATGGGGACCAAGATGGCGGACCTTGATTCGCCTCCGAAGCTGTCAGGGGTGCA
GCAGCCGTCTGAGGGGGTGGGAGGTGGCCGCTGCTCCGAAATCTCCGCTGAGCTCATTCGCTCC
CTGACAGAGCTGCAGGAGCTGGAGGCTGTATACGAACGGCTCTGCGGCGAGGAGAAAGTGGTGG
AGAGAGAGCTGGATGCTCTTTTGGAACAGCAAAACACCATTGAAAGTAAGATGGTCACTCTCCA
CCGAATGGGTCCTAATCTGCAGCTGATTGAGGGAGATGCAAAGCAGCTGGCTGGAATGATCACC
TTTACCTGCAACCTGGCTGAGAATGTGTCCAGCAAAGTTCGTCAGCTTGACCTGGCCAAGAACC
GCCTCTATCAGGCCATTCAGAGAGCTGATGACATCTTGGACCTGAAGTTCTGCATGGATGGAGT
TCAGACTGCTTTGAGGAGTGAAGATTATGAGCAGGCTGCAGCACATACTCATCGCTACTTGTGC
CTGGACAAGTCGGTCATTGAGCTCAGCCGACAGGGCAAAGAGGGGAGCATGATTGATGCCAACC
TGAAATTGCTGCAGGAAGCTGAGCAACGTCTCAAAGCCATTGTGGCAGAGAAGTTTGCCATTGC
CACCAAGGAAGGTGATCTGCCCCAGGTGGAGCGCTTCTTCAAGATCTTCCCACTGCTGGGTTTG
CATGAGGAGGGATTAAGAAAGTTCTCGGAGTACCTTTGCAAGCAGGTGGCCAGTAAAGCTGAGG
AGAATCTGCTCATGGTGCTGGGGACAGACATGAGTGATCGGAGAGCTGCAGTCATCTTTGCAGA
TACACTTACTCTTCTGTTTGAAGGGATTGCCCGCATTGTGGAGACCCACCAGCCAATAGTGGAG
ACCTATTATGGGCCAGGGAGACTCTATACCCTGATCAAATATCTGCAGGTGGAATGTGACAGAC
AGGTGGAGAAGGTGGTAGACAAGTTCATCAAGCAAAGGGACTACCACCAGCAGTTCCGGCATGT
TCAGAACAACCTGATGAGAAATTCTACAACAGAAAAAATCGAACCAAGAGAACTGGACCCCATC
CTGACTGAGGTCACCCTGATGAATGCCCGCAGTGAGCTATACTTACGCTTCCTCAAGAAGAGGA
TTAGCTCTGATTTTGAGGTGGGAGACTCCATGGCCTCAGAGGAAGTAAAGCAAGAGCACCAGAA
GTGTCTGGACAAACTCCTCAATAACTGCCTTTTGAGCTGTACCATGCAGGAGCTAATTGGCTTA
TATGTTACCATGGAGGAGTACTTCATGAGGGAGACTGTCAATAAGGCTGTGGCTCTGGACACCT
ATGAGAAGGGCCAGCTGACATCCAGCATGGTGGATGATGTCTTCTACATTGTTAAGAAGTGCAT
TGGGCGGGCTCTGTCCAGCTCCAGCATTGACTGTCTCTGTGCCATGATCAACCTCGCCACCACA
GAGCTGGAGTCTGACTTCAGGACATCCAGCGCGGGGTGACAAGTGCCGTGAACATCATGCACAG
CAGCCTCCAGCAAGGCAAATTTGACACAAAAGGCATCGAGAGTACTGACGAGGCGAAGATGTCC
TTCCTGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACAC
TGGAGAGTGACTGCACCAAGCTCTTCAGCCAGGGCATTGGAGGGGAGCAGGCCCAGGCCAAGTT
TGACAGCTGCCTTTCTGACTTGGCCGCCGTGTCCAACAAATTCCGAGACCTCTTGCAGGAAGGG
CTGACGGAGCTCAACAGCACAGCCATCAAGCCACAGGTGCAGCCTTGGATCAACAGCTTTTTCT
CCGTCTCCCACAACATCGAGGAGGAAGAATTCAATGACTATGAGGCCAACGACCCTTGGGTACA
ACAGTTCATCCTTAACCTGGAGCAGCAAATGGCAGAGTTCAAGGCCAGCCTGTCCCCGGTCATC
TACGACAGCCTAACCGGCCTCATGACTAGCCTTGTTGCCGTCGAGTTGGAGAAAGTGGTGCTGA
AATCCACCTTTAACCGGCTGGGTGGTCTGCAGTTTGACAAGGAGCTGAGGTCGCTCATTGCCTA
CCTTACCACGGTGACCACCTGGACCATCCGAGACAAGTTTGCCCGGCTCTCCCAGATGGCCACC
ATCCTCAATCTGGAGCGGGTGACCGAGATCCTCGATTACTGGGGACCCAATTCCGGCCCATTGA
CGTGGCGCCTCACCCCTGCTGAAGTGCGCCAGGTGCTGGCCCTGCGGATAGACTTCCGCAGTGA
AGATATCAAGAGGCTGCGCCTGTAGCTGCCTGGATGAGCACACCTGGCTCATCACACTTGCAGG
CCTGTTCCCTAAGGGGCCCCAGCCAAGGAGCTGAGCGAGGCTGTCTGGCTTGGGGGAGATCTGA
CAGCCCAGACCTTTCTACGGCTGGCAGCAGAGAAACAAAGTCTGGACCCACTCCATGCTCTGCC
CTCAGACCTGGCCAGGTGATGCTCTGGGGGCAGCATCTCCCCACCGAGAGAAGCGGGCTCCTAA
TGAGGTGGGAAAGCCACGGCAGGCAGCGAGCAGCCCAGGCCAGCTTTCTGCATGGATGGTCAGT
CTCTTGCCCTCAAACACTACAGCAAACAAGCTACCCCTGCCAGTCCTAGACAACTTGGGTACAT
CTGGGGACCTAGCAGTTAGGCTTGACTTTGAGGAGAGGCTGTGATGTTTATGATCCCTGAATAA
AGCTACTCCTTGGAGAGATG

hide sequence

Protein Sequences


Protein RefSeqs	NP_001182068	(Get FASTA)	NCBI Sequence Viewer
	NP_001352355	(Get FASTA)	NCBI Sequence Viewer
	NP_056201	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH00796	(Get FASTA)	NCBI Sequence Viewer
	AAH06306	(Get FASTA)	NCBI Sequence Viewer
	AAH13347	(Get FASTA)	NCBI Sequence Viewer
	AAH27726	(Get FASTA)	NCBI Sequence Viewer
	AAH72438	(Get FASTA)	NCBI Sequence Viewer
	AAI28145	(Get FASTA)	NCBI Sequence Viewer
	AAI28146	(Get FASTA)	NCBI Sequence Viewer
	BAB14286	(Get FASTA)	NCBI Sequence Viewer
	BAB15483	(Get FASTA)	NCBI Sequence Viewer
	BAC04816	(Get FASTA)	NCBI Sequence Viewer
	BAC05682	(Get FASTA)	NCBI Sequence Viewer
	BAG56773	(Get FASTA)	NCBI Sequence Viewer
	BAG59950	(Get FASTA)	NCBI Sequence Viewer
	CAB43272	(Get FASTA)	NCBI Sequence Viewer
	EAW51806	(Get FASTA)	NCBI Sequence Viewer
	EAW51807	(Get FASTA)	NCBI Sequence Viewer
	EAW51808	(Get FASTA)	NCBI Sequence Viewer
	EAW51809	(Get FASTA)	NCBI Sequence Viewer
	EAW51810	(Get FASTA)	NCBI Sequence Viewer
	EAW51811	(Get FASTA)	NCBI Sequence Viewer
	EAW51812	(Get FASTA)	NCBI Sequence Viewer
	EAW51813	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000315775
	ENSP00000315775.5
	ENSP00000377236.5
	ENSP00000432802.1
	ENSP00000434160.2
	ENSP00000454573.2
	ENSP00000455693.1
	ENSP00000456653.2
	ENSP00000461912.2
	ENSP00000463732.1
	ENSP00000501405
	ENSP00000501405.1
	ENSP00000515173.1
	ENSP00000515174.1
	ENSP00000515175.1
	ENSP00000515176.1
	ENSP00000515177.1
	ENSP00000515178.1
	ENSP00000515179.1
	ENSP00000515180.1
GenBank Protein	Q9H9E3	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_056201 ⟸ NM_015386
- Peptide Label:	isoform 1
- UniProtKB:	Q9Y3W3 (UniProtKB/Swiss-Prot), Q9H9E3 (UniProtKB/Swiss-Prot), Q9H5Y4 (UniProtKB/Swiss-Prot), Q9BVZ2 (UniProtKB/Swiss-Prot), Q9BRF0 (UniProtKB/Swiss-Prot), Q96D40 (UniProtKB/Swiss-Prot), C9JS23 (UniProtKB/Swiss-Prot), B4DMN8 (UniProtKB/Swiss-Prot), J3KNI1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGTKMADLDSPPKLSGVQQPSEGVGGGRCSEISAELIRSLTELQELEAVYERLCGEEKVVEREL DALLEQQNTIESKMVTLHRMGPNLQLIEGDAKQLAGMITFTCNLAENVSSKVRQLDLAKNRLYQ AIQRADDILDLKFCMDGVQTALRSEDYEQAAAHTHRYLCLDKSVIELSRQGKEGSMIDANLKLL QEAEQRLKAIVAEKFAIATKEGDLPQVERFFKIFPLLGLHEEGLRKFSEYLCKQVASKAEENLL MVLGTDMSDRRAAVIFADTLTLLFEGIARIVETHQPIVETYYGPGRLYTLIKYLQVECDRQVEK VVDKFIKQRDYHQQFRHVQNNLMRNSTTEKIEPRELDPILTEVTLMNARSELYLRFLKKRISSD FEVGDSMASEEVKQEHQKCLDKLLNNCLLSCTMQELIGLYVTMEEYFMRETVNKAVALDTYEKG QLTSSMVDDVFYIVKKCIGRALSSSSIDCLCAMINLATTELESDFRDVLCNKLRMGFPATTFQD IQRGVTSAVNIMHSSLQQGKFDTKGIESTDEAKMSFLVTLNNVEVCSENISTLKKTLESDCTKL FSQGIGGEQAQAKFDSCLSDLAAVSNKFRDLLQEGLTELNSTAIKPQVQPWINSFFSVSHNIEE EEFNDYEANDPWVQQFILNLEQQMAEFKASLSPVIYDSLTGLMTSLVAVELEKVVLKSTFNRLG GLQFDKELRSLIAYLTTVTTWTIRDKFARLSQMATILNLERVTEILDYWGPNSGPLTWRLTPAE VRQVLALRIDFRSEDIKRLRL hide sequence

RefSeq Acc Id:	NP_001182068 ⟸ NM_001195139
- Peptide Label:	isoform 2
- UniProtKB:	A0A6I8PIQ6 (UniProtKB/TrEMBL), Q6PIW8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGTKMADLDSPPKLSGVQQPSEGVGGGRCSEISAELIRSLTELQELEAVYERLCGEEKVVEREL DALLEQQNTIESKMVTLHRMGPNLQLIEGDAKQLAGMITFTCNLAENVSSKVRQLDLAKNRLYQ AIQRADDILDLKFCMDGVQTALRSEDYEQAAAHTHRYLCLDKSVIELSRQGKEGSMIDANLKLL QEAEQRLKAIVAEKFAIATKEGDLPQVERFFKIFPLLGLHEEGLRKFSEYLCKQVASKAEENLL MVLGTDMSDRRAAVIFADTLTLLFEGIARIVETHQPIVETYYGPGRLYTLIKYLQVECDRQVEK VVDKFIKQRDYHQQFRHVQNNLMRNSTTEKIEPRELDPILTEVTLMNARSELYLRFLKKRISSD FEVGDSMASEEVKQEHQKCLDKLLNNCLLSCTMQELIGLYVTMEEYFMRETVNKAVALDTYEKG QLTSSMVDDVFYIVKKCIGRALSSSSIDCLCAMINLATTELESDFRDVLCNKLRMGFPATTFQD IQRGVTSAVNIMHSSLQQGKFDTKGIESTDEAKMSFLSDCTKLFSQGIGGEQAQAKFDSCLSDL AAVSNKFRDLLQEGLTELNSTAIKPQVQPWINSFFSVSHNIEEEEFNDYEANDPWVQQFILNLE QQMAEFKASLSPVIYDSLTGLMTSLVAVELEKVVLKSTFNRLGGLQFDKELRSLIAYLTTVTTW TIRDKFARLSQMATILNLERVTEILDYWGPNSGPLTWRLTPAEVRQVLALRIDFRSEDIKRLRL hide sequence

RefSeq Acc Id:	NP_001352355 ⟸ NM_001365426
- Peptide Label:	isoform 3
- UniProtKB:	Q8N8L9 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSP00000501405 ⟸ ENST00000674443

RefSeq Acc Id:

ENSP00000434160 ⟸ ENST00000530160

RefSeq Acc Id:

ENSP00000315775 ⟸ ENST00000323786

RefSeq Acc Id:

ENSP00000461912 ⟸ ENST00000534772

RefSeq Acc Id:

ENSP00000432802 ⟸ ENST00000482252

RefSeq Acc Id:

ENSP00000463732 ⟸ ENST00000524584

RefSeq Acc Id:

ENSP00000456653 ⟸ ENST00000564415

RefSeq Acc Id:

ENSP00000377236 ⟸ ENST00000393612

RefSeq Acc Id:

ENSP00000454573 ⟸ ENST00000564653

RefSeq Acc Id:

ENSP00000455693 ⟸ ENST00000565715

RefSeq Acc Id:

ENSP00000515177 ⟸ ENST00000703110

RefSeq Acc Id:

ENSP00000515173 ⟸ ENST00000703106

RefSeq Acc Id:

ENSP00000515179 ⟸ ENST00000703114

RefSeq Acc Id:

ENSP00000515175 ⟸ ENST00000703108

RefSeq Acc Id:

ENSP00000515180 ⟸ ENST00000703115

RefSeq Acc Id:

ENSP00000515174 ⟸ ENST00000703107

RefSeq Acc Id:

ENSP00000515178 ⟸ ENST00000703113

RefSeq Acc Id:

ENSP00000515176 ⟸ ENST00000703109

Protein Domains

COG4 transport protein middle alpha-helical bundle Conserved oligomeric Golgi complex subunit 4 C- Conserved oligomeric Golgi complex subunit 4 N-

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H9E3-F1-model_v2	AlphaFold	Q9H9E3	1-785	view protein structure

Promoters

RGD ID:

6815134

Promoter ID:

HG_MRA:6179

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

BC000796

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	69,072,946 - 69,073,446 (-)	MPROMDB

RGD ID:

6792929

Promoter ID:

HG_KWN:24163

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000219329, ENST00000310750, ENST00000393612, NM_012426, OTTHUMT00000250326, UC002EZD.1, UC002EZE.1, UC010CFU.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	69,113,956 - 69,115,597 (-)	MPROMDB

RGD ID:

6852232

Promoter ID:

EP73922

Type:

initiation region

Name:

HS_COG4

Description:

Component of oligomeric golgi complex 4.

SO ACC ID:

SO:0000170

Source:

EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	69,114,940 - 69,115,000	EPD

RGD ID:

7232741

Promoter ID:

EPDNEW_H22116

Type:

multiple initiation site

Name:

COG4_1

Description:

component of oligomeric golgi complex 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	70,523,548 - 70,523,608	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18620	AgrOrtholog
COSMIC	COG4	COSMIC
Ensembl Genes	ENSG00000103051	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000323786	ENTREZGENE
	ENST00000323786.10	UniProtKB/TrEMBL
	ENST00000393612.8	UniProtKB/TrEMBL
	ENST00000482252.5	UniProtKB/Swiss-Prot
	ENST00000524584.1	UniProtKB/TrEMBL
	ENST00000530160.2	UniProtKB/TrEMBL
	ENST00000534772.2	UniProtKB/TrEMBL
	ENST00000564415.6	UniProtKB/TrEMBL
	ENST00000564653.6	UniProtKB/TrEMBL
	ENST00000565715.1	UniProtKB/TrEMBL
	ENST00000674443	ENTREZGENE
	ENST00000674443.1	UniProtKB/TrEMBL
	ENST00000703106.1	UniProtKB/TrEMBL
	ENST00000703107.1	UniProtKB/TrEMBL
	ENST00000703108	ENTREZGENE
	ENST00000703108.1	UniProtKB/TrEMBL
	ENST00000703109.1	UniProtKB/TrEMBL
	ENST00000703110.1	UniProtKB/TrEMBL
	ENST00000703113.1	UniProtKB/TrEMBL
	ENST00000703114.1	UniProtKB/TrEMBL
	ENST00000703115.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.58.1970	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ESAT-6-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000103051	GTEx
HGNC ID	HGNC:18620	ENTREZGENE
Human Proteome Map	COG4	Human Proteome Map
InterPro	COG4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	COG4_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	COG4_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	COG_su4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:25839	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	25839	ENTREZGENE
OMIM	606976	OMIM
PANTHER	CONSERVED OLIGOMERIC GOLGI COMPLEX SUBUNIT 4	UniProtKB/Swiss-Prot
	CONSERVED OLIGOMERIC GOLGI COMPLEX SUBUNIT 4	UniProtKB/Swiss-Prot
	CONSERVED OLIGOMERIC GOLGI COMPLEX SUBUNIT 4	UniProtKB/TrEMBL
	CONSERVED OLIGOMERIC GOLGI COMPLEX SUBUNIT 4	UniProtKB/TrEMBL
Pfam	COG4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	COG4_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	COG4_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA38603	PharmGKB
SMART	Cog4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0A0MS45_HUMAN	UniProtKB/TrEMBL
	A0A6I8PIQ6	ENTREZGENE, UniProtKB/TrEMBL
	A0A8V8TQ33_HUMAN	UniProtKB/TrEMBL
	A0A8V8TQ38_HUMAN	UniProtKB/TrEMBL
	A0A8V8TQL5_HUMAN	UniProtKB/TrEMBL
	A0A8V8TQL9_HUMAN	UniProtKB/TrEMBL
	A0A8V8TQM1_HUMAN	UniProtKB/TrEMBL
	A0A8V8TR60_HUMAN	UniProtKB/TrEMBL
	A0A8V8TRG1_HUMAN	UniProtKB/TrEMBL
	A2VCL3_HUMAN	UniProtKB/TrEMBL
	B4DDL2_HUMAN	UniProtKB/TrEMBL
	B4DMN8	ENTREZGENE
	C9JS23	ENTREZGENE
	COG4_HUMAN	UniProtKB/Swiss-Prot
	E9PRT5_HUMAN	UniProtKB/TrEMBL
	H3BMV9_HUMAN	UniProtKB/TrEMBL
	H3BQB2_HUMAN	UniProtKB/TrEMBL
	H3BSD2_HUMAN	UniProtKB/TrEMBL
	J3KNI1	ENTREZGENE, UniProtKB/TrEMBL
	J3KRB5_HUMAN	UniProtKB/TrEMBL
	J3QLW1_HUMAN	UniProtKB/TrEMBL
	Q6PIW8	ENTREZGENE, UniProtKB/TrEMBL
	Q8N8L9	ENTREZGENE, UniProtKB/TrEMBL
	Q96D40	ENTREZGENE
	Q9BRF0	ENTREZGENE
	Q9BVZ2	ENTREZGENE
	Q9H5Y4	ENTREZGENE
	Q9H9E3	ENTREZGENE
	Q9Y3W3	ENTREZGENE
UniProt Secondary	B4DMN8	UniProtKB/Swiss-Prot
	C9JS23	UniProtKB/Swiss-Prot
	Q96D40	UniProtKB/Swiss-Prot
	Q9BRF0	UniProtKB/Swiss-Prot
	Q9BVZ2	UniProtKB/Swiss-Prot
	Q9H5Y4	UniProtKB/Swiss-Prot
	Q9Y3W3	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar