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Gene: GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D) Homo sapiens

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Symbol:

GRIN2D

Name:

glutamate ionotropic receptor NMDA type subunit 2D

RGD ID:

732718

HGNC Page

HGNC:4588

Description:

Enables NMDA glutamate receptor activity and glutamate-gated calcium ion channel activity. Involved in calcium ion transmembrane import into cytosol. Located in plasma membrane. Part of NMDA selective glutamate receptor complex. Implicated in developmental and epileptic encephalopathy 46. Biomarker of schizophrenia.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DEE46; EB11; EIEE46; estrogen receptor binding CpG island; GluN2D; glutamate [NMDA] receptor subunit epsilon-4; glutamate receptor ionotropic, NMDA 2D; glutamate receptor, ionotropic, N-methyl D-aspartate 2D; N-methyl D-aspartate receptor subtype 2D; N-methyl-d-aspartate receptor subunit 2D; NMDAR2D; NR2D

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	19	48,393,668 - 48,444,931 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	48,393,668 - 48,444,931 (+)	Ensembl			hg38	GRCh38
GRCh37	19	48,896,925 - 48,948,188 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	53,589,944 - 53,640,000 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	19	53,589,943 - 53,639,205	NCBI
Celera	19	45,763,381 - 45,813,433 (+)	NCBI		Celera
Cytogenetic Map	19	q13.33	NCBI
HuRef	19	45,278,762 - 45,328,386 (+)	NCBI		HuRef
CHM1_1	19	48,900,198 - 48,950,044 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	51,387,832 - 51,439,100 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

developmental and epileptic encephalopathy 46 (IAGP)

Developmental Disease (IAGP)

epilepsy (IAGP)

genetic disease (IAGP)

intellectual disability (IAGP)

Nerve Degeneration (EXP)

schizophrenia (EXP,IEP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (EXP)

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

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

4,4'-sulfonyldiphenol (ISO)

4-aminopyridine (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

alpha-Zearalanol (ISO)

ammonium chloride (ISO)

androgen antagonist (ISO)

arsane (EXP)

arsenic atom (EXP)

Azoxymethane (ISO)

benzo[a]pyrene (EXP)

bicuculline (ISO)

bisphenol A (ISO)

Butylparaben (ISO)

C60 fullerene (ISO)

celecoxib (ISO)

Citreoviridin (ISO)

cocaine (ISO)

Cuprizon (ISO)

DDE (ISO)

deguelin (EXP)

dextran sulfate (ISO)

diazinon (ISO)

dicrotophos (EXP)

enzacamene (ISO)

ethanol (ISO)

excitatory amino acid agonist (EXP)

fenvalerate (ISO)

furan (ISO)

genistein (ISO)

gentamycin (ISO)

haloperidol (ISO)

hexachlorophene (ISO)

kainic acid (ISO)

lead diacetate (ISO)

leflunomide (EXP)

linuron (ISO)

methamphetamine (ISO)

monosodium L-glutamate (ISO)

N-methyl-4-phenylpyridinium (EXP)

niclosamide (EXP)

okadaic acid (EXP)

ouabain (ISO)

paracetamol (ISO)

paraquat (ISO)

perfluorohexanesulfonic acid (ISO)

perfluorooctanoic acid (ISO)

phenanthrenes (ISO)

Pirarubicin (ISO)

potassium chloride (ISO)

prostaglandin E2 (ISO)

resveratrol (EXP)

serpentine asbestos (EXP)

sodium arsenite (EXP,ISO)

sotorasib (EXP)

sterigmatocystin (ISO)

tebufenpyrad (EXP)

tetrachloromethane (ISO)

thifluzamide (EXP)

titanium dioxide (ISO)

trametinib (EXP)

trichloroethene (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

adult locomotory behavior (IEA)

brain development (NAS)

calcium ion transmembrane import into cytosol (IDA,IEA)

calcium-mediated signaling (IEA)

cellular response to L-glutamate (IEA,ISO)

detection of mechanical stimulus involved in sensory perception of pain (ISO)

excitatory chemical synaptic transmission (NAS)

excitatory postsynaptic potential (IBA,ISO)

ionotropic glutamate receptor signaling pathway (IEA,NAS)

long-term synaptic potentiation (IBA)

monoatomic cation transmembrane transport (IDA,IEA,NAS)

monoatomic ion transmembrane transport (IEA)

monoatomic ion transport (IEA)

positive regulation of excitatory postsynaptic potential (IEA,NAS)

positive regulation of synaptic transmission, glutamatergic (IEA,NAS)

regulation of monoatomic cation transmembrane transport (IEA,NAS)

regulation of neuronal synaptic plasticity (NAS)

regulation of presynaptic membrane potential (IEA)

regulation of sensory perception of pain (IEA)

regulation of synaptic plasticity (IEA,ISS,NAS)

startle response (IEA)

synaptic transmission, glutamatergic (IBA,IEA,ISO)

Cellular Component

endoplasmic reticulum membrane (TAS)

glutamatergic synapse (IEA)

hippocampal mossy fiber to CA3 synapse (IEA)

membrane (IEA)

NMDA selective glutamate receptor complex (IBA,IDA,IEA,ISO,TAS)

plasma membrane (IBA,IDA,IEA,NAS,TAS)

postsynaptic density membrane (IBA,IEA)

postsynaptic membrane (IEA,ISS,NAS)

presynaptic active zone membrane (IEA)

presynaptic membrane (IEA)

synapse (IEA)

Molecular Function

glutamate binding (IEA,ISO)

glutamate-gated calcium ion channel activity (IDA)

glutamate-gated receptor activity (IDA,IEA,ISO)

ligand-gated monoatomic ion channel activity (IEA)

ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential (IEA)

monoatomic cation channel activity (IEA,ISO)

monoatomic ion channel activity (IEA)

NMDA glutamate receptor activity (IBA,IDA,IEA,ISO,ISS,TAS)

protein binding (IPI)

signaling receptor activity (IEA)

transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential (IBA,IEA)

voltage-gated monoatomic cation channel activity (IEA,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

Alzheimer's disease pathway (IEA)

amyotrophic lateral sclerosis pathway (IEA)

glutamate signaling pathway (IEA)

long term potentiation (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal corpus callosum morphology (IAGP)

Abnormal involuntary eye movements (IAGP)

Abnormal myelination (IAGP)

Abnormality of coordination (IAGP)

Abnormality of vision (IAGP)

Absent speech (IAGP)

Ataxia (IAGP)

Attention deficit hyperactivity disorder (IAGP)

Atypical behavior (IAGP)

Autism (IAGP)

Autosomal dominant inheritance (IAGP)

Axial hypotonia (IAGP)

Brain atrophy (IAGP)

Cerebral atrophy (IAGP)

Cerebral visual impairment (IAGP)

Decreased fetal movement (IAGP)

Delayed speech and language development (IAGP)

Developmental regression (IAGP)

Downslanted palpebral fissures (IAGP)

Drooling (IAGP)

Dyskinesia (IAGP)

Dysphagia (IAGP)

EEG with multifocal slow activity (IAGP)

Encephalopathy (IAGP)

Epileptic encephalopathy (IAGP)

Failure to thrive (IAGP)

Feeding difficulties (IAGP)

Gait disturbance (IAGP)

Gastroesophageal reflux (IAGP)

Generalized hypotonia (IAGP)

Generalized-onset seizure (IAGP)

Global developmental delay (IAGP)

High forehead (IAGP)

Hypodontia (IAGP)

Hyporeflexia (IAGP)

Hypsarrhythmia (IAGP)

Impulsivity (IAGP)

Infantile onset (IAGP)

Intellectual disability (IAGP)

Involuntary movements (IAGP)

Limb hypertonia (IAGP)

Mental deterioration (IAGP)

Microcephaly (IAGP)

Myoclonus (IAGP)

Neonatal onset (IAGP)

Nystagmus (IAGP)

Optic atrophy (IAGP)

Pes planus (IAGP)

Poor head control (IAGP)

Ptosis (IAGP)

Reduced tendon reflexes (IAGP)

Retinal degeneration (IAGP)

Rigidity (IAGP)

Seizure (IAGP)

Short stature (IAGP)

Spasticity (IAGP)

Status epilepticus (IAGP)

Tremor (IAGP)

Unsteady gait (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Reduced spontaneous activity of mice defective in the epsilon 4 subunit of the NMDA receptor channel.	Ikeda K, etal., Brain Res Mol Brain Res 1995 Oct;33(1):61-71.
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	Gene expression of NMDA receptor subunits in the cerebellum of elderly patients with schizophrenia.	Schmitt A, etal., Eur Arch Psychiatry Clin Neurosci. 2010 Mar;260(2):101-11. Epub 2009 May 12.

Additional References at PubMed

PMID:7569905	PMID:7695237	PMID:8563977	PMID:8581564	PMID:8613785	PMID:8615909	PMID:8665664	PMID:8724036	PMID:8804048	PMID:8821747	PMID:8822372	PMID:8845955
PMID:8955056	PMID:9258910	PMID:9418891	PMID:9480759	PMID:9481670	PMID:9489750	PMID:9647694	PMID:9651389	PMID:9745929	PMID:10197777	PMID:10216082	PMID:10373510
PMID:10448428	PMID:10479680	PMID:10555109	PMID:10777567	PMID:10862698	PMID:11483648	PMID:11606043	PMID:11937501	PMID:12082569	PMID:12191494	PMID:12414113	PMID:12775422
PMID:12815021	PMID:14622581	PMID:14644469	PMID:15003177	PMID:15317856	PMID:15749123	PMID:16094258	PMID:16328341	PMID:16481105	PMID:16489129	PMID:16697675	PMID:17360663
PMID:17474147	PMID:17526495	PMID:18233995	PMID:18444252	PMID:19020013	PMID:19036954	PMID:19125103	PMID:19156168	PMID:19526283	PMID:21491143	PMID:21670103	PMID:21873635
PMID:21915661	PMID:21948112	PMID:22114277	PMID:22486492	PMID:22552781	PMID:22833210	PMID:22940423	PMID:23267846	PMID:23443559	PMID:23639431	PMID:23665428	PMID:24086760
PMID:24739951	PMID:25613138	PMID:25760043	PMID:26760575	PMID:26875626	PMID:26919761	PMID:26943033	PMID:27616483	PMID:28284346	PMID:28987794	PMID:29317596	PMID:30261285
PMID:30280376	PMID:32497062	PMID:35295962	PMID:35748872	PMID:35914066	PMID:36309015	PMID:36959261	PMID:37084840	PMID:37511595	PMID:37788672	PMID:37794492	PMID:37982578

Genomics

Comparative Map Data

GRIN2D
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	48,393,668 - 48,444,931 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	48,393,668 - 48,444,931 (+)	Ensembl			hg38	GRCh38
GRCh37	19	48,896,925 - 48,948,188 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	53,589,944 - 53,640,000 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	19	53,589,943 - 53,639,205	NCBI
Celera	19	45,763,381 - 45,813,433 (+)	NCBI		Celera
Cytogenetic Map	19	q13.33	NCBI
HuRef	19	45,278,762 - 45,328,386 (+)	NCBI		HuRef
CHM1_1	19	48,900,198 - 48,950,044 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	51,387,832 - 51,439,100 (+)	NCBI		T2T-CHM13v2.0

Grin2d
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	45,481,307 - 45,520,708 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	45,481,307 - 45,527,802 (-)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	7	45,831,883 - 45,871,194 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	45,831,883 - 45,878,378 (-)	Ensembl			mm10	GRCm38
MGSCv37	7	53,087,853 - 53,122,051 (-)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	7	45,700,822 - 45,734,609 (-)	NCBI		MGSCv36	mm8
Celera	7	41,296,635 - 41,330,798 (-)	NCBI		Celera
Cytogenetic Map	7	B3	NCBI
cM Map	7	29.54	NCBI

Grin2d
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	105,443,317 - 105,483,400 (-)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	1	105,444,813 - 105,481,236 (-)	Ensembl				GRCr8
mRatBN7.2	1	96,306,871 - 96,346,994 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	96,308,365 - 96,344,793 (-)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	1	101,694,508 - 101,730,941 (-)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	110,166,494 - 110,202,933 (-)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	103,456,865 - 103,493,298 (-)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	101,819,068 - 101,859,146 (-)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	101,820,461 - 101,856,881 (-)	Ensembl			rn6	Rnor6.0
Rnor_5.0	1	102,899,446 - 102,935,845 (-)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	1	96,308,548 - 96,345,931 (-)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	1	90,560,875 - 90,597,451 (-)	NCBI		Celera
RGSC_v3.1	1	96,386,658 - 96,424,042 (-)	NCBI
Cytogenetic Map	1	q22	NCBI

Grin2d
(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	NW_004955559	2,042,723 - 2,080,706 (-)	NCBI	ChiLan1.0	ChiLan1.0

GRIN2D
(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	20	54,496,831 - 54,550,701 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	56,423,033 - 56,477,035 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	45,392,258 - 45,447,004 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	53,989,734 - 54,038,371 (+)	NCBI	PanPan1.1	PanPan1.1	panPan2

GRIN2D
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	107,821,853 - 107,853,411 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	107,822,716 - 107,849,945 (-)	Ensembl			canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	107,344,687 - 107,375,906 (-)	NCBI	Dog10K_Boxer_Tasha	Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	108,347,785 - 108,379,031 (-)	NCBI	ROS_Cfam_1.0	ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	108,347,734 - 108,379,883 (-)	Ensembl				ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	108,013,073 - 108,045,131 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	107,660,406 - 107,692,469 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	108,496,256 - 108,532,686 (-)	NCBI	UU_Cfam_GSD_1.0	UU_Cfam_GSD_1.0

Grin2d
(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	20,898,056 - 20,928,675 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936664	2,515,928 - 2,546,429 (+)	Ensembl		SpeTri2.0 Ensembl
SpeTri2.0	NW_004936664	2,512,777 - 2,546,865 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GRIN2D
(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	53,806,174 - 53,848,789 (+)	Ensembl			susScr11	Sscrofa11.1
Sscrofa11.1	6	53,809,590 - 53,849,535 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	49,570,829 - 49,613,106 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GRIN2D
(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	6	41,650,458 - 41,707,024 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	41,656,334 - 41,706,030 (+)	Ensembl		ChlSab1.1 Ensembl	chlSab2	Vervet-AGM
Vero_WHO_p1.0	NW_023666073	21,434,159 - 21,490,139 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Grin2d
(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_004624832	5,362,046 - 5,392,973 (-)	Ensembl		HetGla_female_1.0 Ensembl	hetGla2	HetGla_female_1.0 Ensembl
HetGla 1.0	NW_004624832	5,362,046 - 5,392,988 (-)	NCBI	HetGla 1.0	HetGla 1.0	hetGla2

Variants

Variants in GRIN2D
1102 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	copy number gain	See cases [RCV000052913]	Chr19:46658791..49050450 [GRCh38] Chr19:47162048..49553707 [GRCh37] Chr19:51853888..54245519 [NCBI36] Chr19:19q13.32-13.33	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	copy number gain	See cases [RCV000052914]	Chr19:47908540..58539965 [GRCh38] Chr19:48411797..59051332 [GRCh37] Chr19:53103609..63743144 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	copy number gain	See cases [RCV000052915]	Chr19:47929575..58572206 [GRCh38] Chr19:48432832..59083573 [GRCh37] Chr19:53124644..63775385 [NCBI36] Chr19:19q13.33-13.43	pathogenic
NM_000836.2(GRIN2D):c.480C>T (p.Thr160=)	single nucleotide variant	Malignant melanoma [RCV000072234]	Chr19:48404748 [GRCh38] Chr19:48908005 [GRCh37] Chr19:53599817 [NCBI36] Chr19:19q13.33	not provided
NM_000836.4(GRIN2D):c.3888G>C (p.Arg1296Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001331390]\|Inborn genetic diseases [RCV002546471]\|not provided [RCV001863241]	Chr19:48443814 [GRCh38] Chr19:48947071 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2356A>G (p.Thr786Ala)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001331388]	Chr19:48441872 [GRCh38] Chr19:48945129 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001004763]	Chr19:48419731 [GRCh38] Chr19:48922988 [GRCh37] Chr19:19q13.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_000836.4(GRIN2D):c.838G>A (p.Ala280Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001333574]\|not provided [RCV001871851]	Chr19:48405106 [GRCh38] Chr19:48908363 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3929C>T (p.Ala1310Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001331391]\|not provided [RCV003679060]	Chr19:48443855 [GRCh38] Chr19:48947112 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV000257970]	Chr19:48419722 [GRCh38] Chr19:48922979 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_000836.4(GRIN2D):c.2275G>T (p.Asp759Tyr)	single nucleotide variant	not provided [RCV001870686]	Chr19:48441791 [GRCh38] Chr19:48945048 [GRCh37] Chr19:19q13.33	uncertain significance
GRCh37/hg19 19q13.33(chr19:48876760-49053557)x3	copy number gain	See cases [RCV000240360]	Chr19:48876760..49053557 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2682_2683del (p.Tyr894_Ser895delinsTer)	deletion	not provided [RCV002281366]	Chr19:48442607..48442608 [GRCh38] Chr19:48945864..48945865 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3321T>A (p.Asp1107Glu)	single nucleotide variant	not provided [RCV000423001]	Chr19:48443247 [GRCh38] Chr19:48946504 [GRCh37] Chr19:19q13.33	likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
NM_000836.4(GRIN2D):c.2765C>T (p.Ala922Val)	single nucleotide variant	GRIN2D-related disorder [RCV003935343]\|not provided [RCV000513919]	Chr19:48442691 [GRCh38] Chr19:48945948 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2709_2726del (p.Ala906_Pro911del)	deletion	not provided [RCV003313417]	Chr19:48442631..48442648 [GRCh38] Chr19:48945888..48945905 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3335C>T (p.Pro1112Leu)	single nucleotide variant	Inborn genetic diseases [RCV003275587]	Chr19:48443261 [GRCh38] Chr19:48946518 [GRCh37] Chr19:19q13.33	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_000836.4(GRIN2D):c.2041A>C (p.Met681Leu)	single nucleotide variant	Inborn genetic diseases [RCV000624005]	Chr19:48419764 [GRCh38] Chr19:48923021 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV000736017]	Chr19:48414517 [GRCh38] Chr19:48917774 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_000836.4(GRIN2D):c.3222A>G (p.Pro1074=)	single nucleotide variant	not provided [RCV001539960]	Chr19:48443148 [GRCh38] Chr19:48946405 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.2043G>C (p.Met681Ile)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV000736015]	Chr19:48419766 [GRCh38] Chr19:48923023 [GRCh37] Chr19:19q13.33	pathogenic
NM_000836.4(GRIN2D):c.2080A>C (p.Ser694Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV000736016]	Chr19:48419803 [GRCh38] Chr19:48923060 [GRCh37] Chr19:19q13.33	pathogenic
NM_000836.4(GRIN2D):c.750A>G (p.Arg250=)	single nucleotide variant	not provided [RCV001532384]	Chr19:48405018 [GRCh38] Chr19:48908275 [GRCh37] Chr19:19q13.33	likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_000836.4(GRIN2D):c.3486C>T (p.Arg1162=)	single nucleotide variant	not provided [RCV000980089]	Chr19:48443412 [GRCh38] Chr19:48946669 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1605G>T (p.Met535Ile)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV000990239]	Chr19:48416025 [GRCh38] Chr19:48919282 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.681G>A (p.Ala227=)	single nucleotide variant	not provided [RCV000929482]	Chr19:48404949 [GRCh38] Chr19:48908206 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2252+9A>G	single nucleotide variant	not provided [RCV000982451]	Chr19:48421954 [GRCh38] Chr19:48925211 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.723G>T (p.Ala241=)	single nucleotide variant	GRIN2D-related disorder [RCV003972931]\|not provided [RCV000971967]	Chr19:48404991 [GRCh38] Chr19:48908248 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2274C>T (p.Tyr758=)	single nucleotide variant	not provided [RCV000976067]	Chr19:48441790 [GRCh38] Chr19:48945047 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2271C>T (p.Ile757=)	single nucleotide variant	GRIN2D-related disorder [RCV003978186]\|not provided [RCV000949072]	Chr19:48441787 [GRCh38] Chr19:48945044 [GRCh37] Chr19:19q13.33	benign\|likely benign
NM_000836.4(GRIN2D):c.1998C>T (p.Ala666=)	single nucleotide variant	GRIN2D-related disorder [RCV003950585]\|not provided [RCV000901799]	Chr19:48419721 [GRCh38] Chr19:48922978 [GRCh37] Chr19:19q13.33	benign\|likely benign
NM_000836.4(GRIN2D):c.1551C>T (p.Ile517=)	single nucleotide variant	not provided [RCV000971342]	Chr19:48415002 [GRCh38] Chr19:48918259 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.3246G>C (p.Thr1082=)	single nucleotide variant	not provided [RCV000883564]	Chr19:48443172 [GRCh38] Chr19:48946429 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.854C>T (p.Ser285Phe)	single nucleotide variant	not provided [RCV000905456]	Chr19:48405122 [GRCh38] Chr19:48908379 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2118G>A (p.Pro706=)	single nucleotide variant	not provided [RCV000948486]	Chr19:48421811 [GRCh38] Chr19:48925068 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1412+10C>G	single nucleotide variant	not provided [RCV000906792]	Chr19:48414594 [GRCh38] Chr19:48917851 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3213G>T (p.Leu1071=)	single nucleotide variant	not provided [RCV000939786]	Chr19:48443139 [GRCh38] Chr19:48946396 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.759C>A (p.Ala253=)	single nucleotide variant	not provided [RCV000920764]	Chr19:48405027 [GRCh38] Chr19:48908284 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.927G>A (p.Ser309=)	single nucleotide variant	not provided [RCV000970908]	Chr19:48405195 [GRCh38] Chr19:48908452 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3336G>T (p.Pro1112=)	single nucleotide variant	not provided [RCV000918573]	Chr19:48443262 [GRCh38] Chr19:48946519 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3735C>T (p.Ala1245=)	single nucleotide variant	not provided [RCV000917351]	Chr19:48443661 [GRCh38] Chr19:48946918 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3273C>T (p.Ala1091=)	single nucleotide variant	not provided [RCV000940683]	Chr19:48443199 [GRCh38] Chr19:48946456 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3285G>C (p.Pro1095=)	single nucleotide variant	not provided [RCV000943374]	Chr19:48443211 [GRCh38] Chr19:48946468 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2904C>T (p.Ile968=)	single nucleotide variant	not provided [RCV000959573]	Chr19:48442830 [GRCh38] Chr19:48946087 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2721G>A (p.Lys907=)	single nucleotide variant	not provided [RCV000898602]	Chr19:48442647 [GRCh38] Chr19:48945904 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3807G>C (p.Ser1269=)	single nucleotide variant	GRIN2D-related disorder [RCV003933224]\|not provided [RCV000943759]	Chr19:48443733 [GRCh38] Chr19:48946990 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2430C>T (p.Phe810=)	single nucleotide variant	not provided [RCV000894617]	Chr19:48441946 [GRCh38] Chr19:48945203 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2856G>T (p.Pro952=)	single nucleotide variant	not provided [RCV000894618]	Chr19:48442782 [GRCh38] Chr19:48946039 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1179C>T (p.Thr393=)	single nucleotide variant	not provided [RCV000942286]	Chr19:48414084 [GRCh38] Chr19:48917341 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.690C>G (p.Ala230=)	single nucleotide variant	not provided [RCV000894616]	Chr19:48404958 [GRCh38] Chr19:48908215 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.307C>G (p.Leu103Val)	single nucleotide variant	Inborn genetic diseases [RCV003267831]\|not provided [RCV003779992]	Chr19:48398699 [GRCh38] Chr19:48901956 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2024C>T (p.Ala675Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002291220]\|not provided [RCV000996955]	Chr19:48419747 [GRCh38] Chr19:48923004 [GRCh37] Chr19:19q13.33	pathogenic\|uncertain significance
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	copy number gain	not provided [RCV000848800]	Chr19:48119589..49595956 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1434C>T (p.Arg478=)	single nucleotide variant	not provided [RCV000996954]	Chr19:48414885 [GRCh38] Chr19:48918142 [GRCh37] Chr19:19q13.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_000836.4(GRIN2D):c.2888G>A (p.Arg963His)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV000850374]\|Inborn genetic diseases [RCV004029256]\|not provided [RCV002538355]	Chr19:48442814 [GRCh38] Chr19:48946071 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1114C>T (p.Arg372Trp)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV004584580]	Chr19:48414019 [GRCh38] Chr19:48917276 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1938C>G (p.Pro646=)	single nucleotide variant	not provided [RCV000977426]	Chr19:48419661 [GRCh38] Chr19:48922918 [GRCh37] Chr19:19q13.33	likely benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	copy number gain	not provided [RCV000845733]	Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33	pathogenic
NM_000836.4(GRIN2D):c.103C>T (p.Pro35Ser)	single nucleotide variant	not provided [RCV000996952]	Chr19:48398495 [GRCh38] Chr19:48901752 [GRCh37] Chr19:19q13.33	likely benign\|conflicting interpretations of pathogenicity
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	copy number gain	not provided [RCV001007050]	Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42	pathogenic
NM_000836.4(GRIN2D):c.667C>G (p.Leu223Val)	single nucleotide variant	not provided [RCV000996953]	Chr19:48404935 [GRCh38] Chr19:48908192 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3865G>C (p.Gly1289Arg)	single nucleotide variant	Inborn genetic diseases [RCV003272978]	Chr19:48443791 [GRCh38] Chr19:48947048 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.9:g.(?_48945528)_(48946732_?)del	deletion	not provided [RCV003105359]	Chr19:48945528..48946732 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2440G>A (p.Asp814Asn)	single nucleotide variant	not provided [RCV004812891]	Chr19:48441956 [GRCh38] Chr19:48945213 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3514C>A (p.Arg1172Ser)	single nucleotide variant	not provided [RCV003104366]	Chr19:48443440 [GRCh38] Chr19:48946697 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2442T>G (p.Asp814Glu)	single nucleotide variant	Inborn genetic diseases [RCV003242369]	Chr19:48442151 [GRCh38] Chr19:48945408 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1641C>T (p.Ser547=)	single nucleotide variant	GRIN2D-related disorder [RCV003923290]\|not provided [RCV000922411]	Chr19:48416061 [GRCh38] Chr19:48919318 [GRCh37] Chr19:19q13.33	benign\|likely benign
NM_000836.4(GRIN2D):c.609C>T (p.Tyr203=)	single nucleotide variant	not provided [RCV000974400]	Chr19:48404877 [GRCh38] Chr19:48908134 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3729C>G (p.Pro1243=)	single nucleotide variant	not provided [RCV000909396]	Chr19:48443655 [GRCh38] Chr19:48946912 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2910G>A (p.Pro970=)	single nucleotide variant	GRIN2D-related disorder [RCV003935840]\|not provided [RCV000954777]	Chr19:48442836 [GRCh38] Chr19:48946093 [GRCh37] Chr19:19q13.33	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000836.4(GRIN2D):c.2019C>T (p.Tyr673=)	single nucleotide variant	not provided [RCV000942338]	Chr19:48419742 [GRCh38] Chr19:48922999 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1086-9C>T	single nucleotide variant	not provided [RCV000895590]	Chr19:48413982 [GRCh38] Chr19:48917239 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3852G>C (p.Ala1284=)	single nucleotide variant	not provided [RCV000899539]	Chr19:48443778 [GRCh38] Chr19:48947035 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3214C>T (p.Leu1072=)	single nucleotide variant	not provided [RCV000939787]	Chr19:48443140 [GRCh38] Chr19:48946397 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3940A>C (p.Arg1314=)	single nucleotide variant	not provided [RCV000942957]	Chr19:48443866 [GRCh38] Chr19:48947123 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3750C>A (p.His1250Gln)	single nucleotide variant	not provided [RCV001200235]	Chr19:48443676 [GRCh38] Chr19:48946933 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3363G>C (p.Leu1121=)	single nucleotide variant	not provided [RCV000891419]	Chr19:48443289 [GRCh38] Chr19:48946546 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.3669G>A (p.Arg1223=)	single nucleotide variant	not provided [RCV000913699]	Chr19:48443595 [GRCh38] Chr19:48946852 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3269C>G (p.Pro1090Arg)	single nucleotide variant	not provided [RCV004812897]	Chr19:48443195 [GRCh38] Chr19:48946452 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1951dup (p.Arg651fs)	duplication	not provided [RCV002467227]	Chr19:48419669..48419670 [GRCh38] Chr19:48922926..48922927 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.938G>A (p.Arg313Gln)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV004799472]	Chr19:48405206 [GRCh38] Chr19:48908463 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3124G>T (p.Gly1042Trp)	single nucleotide variant	Intellectual disability [RCV001252258]	Chr19:48443050 [GRCh38] Chr19:48946307 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.88G>A (p.Glu30Lys)	single nucleotide variant	Intellectual disability [RCV001252261]\|not provided [RCV001879846]	Chr19:48398480 [GRCh38] Chr19:48901737 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.2308G>A (p.Asp770Asn)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001170001]\|not provided [RCV001873568]	Chr19:48441824 [GRCh38] Chr19:48945081 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2697T>C (p.Ala899=)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001703024]\|not provided [RCV001638419]	Chr19:48442623 [GRCh38] Chr19:48945880 [GRCh37] Chr19:19q13.33	benign
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	copy number gain	not provided [RCV001249294]	Chr19:47939842..54626871 [GRCh37] Chr19:19q13.32-13.42	not provided
NM_000836.4(GRIN2D):c.3175G>T (p.Ala1059Ser)	single nucleotide variant	Intellectual disability [RCV001252264]	Chr19:48443101 [GRCh38] Chr19:48946358 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.884C>T (p.Pro295Leu)	single nucleotide variant	Inborn genetic diseases [RCV004035320]\|Intellectual disability [RCV001252262]\|not provided [RCV002069336]	Chr19:48405152 [GRCh38] Chr19:48908409 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3196C>A (p.Pro1066Thr)	single nucleotide variant	Intellectual disability [RCV001252259]	Chr19:48443122 [GRCh38] Chr19:48946379 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1583T>G (p.Val528Gly)	single nucleotide variant	Intellectual disability [RCV001252263]	Chr19:48416003 [GRCh38] Chr19:48919260 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1724C>T (p.Ser575Leu)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001251166]\|not provided [RCV003232267]	Chr19:48416144 [GRCh38] Chr19:48919401 [GRCh37] Chr19:19q13.33	likely pathogenic\|uncertain significance
NM_000836.4(GRIN2D):c.1085+6T>A	single nucleotide variant	Intellectual disability [RCV001252260]	Chr19:48405359 [GRCh38] Chr19:48908616 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3250G>A (p.Gly1084Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001542455]\|Inborn genetic diseases [RCV005348402]\|Intellectual disability [RCV001252257]\|not provided [RCV001879845]	Chr19:48443176 [GRCh38] Chr19:48946433 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.2023G>A (p.Ala675Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001780220]\|Inborn genetic diseases [RCV001265946]	Chr19:48419746 [GRCh38] Chr19:48923003 [GRCh37] Chr19:19q13.33	likely pathogenic\|uncertain significance
GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	copy number gain	not provided [RCV001259943]	Chr19:48854319..49430535 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_000836.4(GRIN2D):c.2041A>G (p.Met681Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV005253793]\|not provided [RCV001311541]	Chr19:48419764 [GRCh38] Chr19:48923021 [GRCh37] Chr19:19q13.33	pathogenic\|likely pathogenic
NM_000836.4(GRIN2D):c.3124G>C (p.Gly1042Arg)	single nucleotide variant	Inborn genetic diseases [RCV001267182]\|not provided [RCV002469368]	Chr19:48443050 [GRCh38] Chr19:48946307 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3710G>A (p.Arg1237Gln)	single nucleotide variant	Inborn genetic diseases [RCV001267302]	Chr19:48443636 [GRCh38] Chr19:48946893 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2611T>C (p.Trp871Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001333573]\|not provided [RCV001859313]	Chr19:48442320 [GRCh38] Chr19:48945577 [GRCh37] Chr19:19q13.33	uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	copy number gain	not provided [RCV001259944]	Chr19:48463931..57095254 [GRCh37] Chr19:19q13.33-13.43	pathogenic
NM_000836.4(GRIN2D):c.3142T>C (p.Leu1048=)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001703119]\|not provided [RCV001536449]	Chr19:48443068 [GRCh38] Chr19:48946325 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.3127C>T (p.Pro1043Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV004799563]	Chr19:48443053 [GRCh38] Chr19:48946310 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3961G>C (p.Gly1321Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV004799506]\|Inborn genetic diseases [RCV005348406]\|not provided [RCV001880057]	Chr19:48443887 [GRCh38] Chr19:48947144 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2827T>G (p.Trp943Gly)	single nucleotide variant	Inborn genetic diseases [RCV001266150]\|not provided [RCV001880112]	Chr19:48442753 [GRCh38] Chr19:48946010 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3076G>A (p.Gly1026Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001331389]\|not provided [RCV003770836]	Chr19:48443002 [GRCh38] Chr19:48946259 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3797C>A (p.Ala1266Glu)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV004799570]	Chr19:48443723 [GRCh38] Chr19:48946980 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3260G>C (p.Gly1087Ala)	single nucleotide variant	Inborn genetic diseases [RCV004034231]\|not provided [RCV001310418]	Chr19:48443186 [GRCh38] Chr19:48946443 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.1085+13G>A	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001333572]	Chr19:48405366 [GRCh38] Chr19:48908623 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2511C>A (p.Ser837Arg)	single nucleotide variant	not provided [RCV001311542]	Chr19:48442220 [GRCh38] Chr19:48945477 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_000836.4(GRIN2D):c.3227C>T (p.Ala1076Val)	single nucleotide variant	not provided [RCV001363899]	Chr19:48443153 [GRCh38] Chr19:48946410 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.460C>A (p.Pro154Thr)	single nucleotide variant	not provided [RCV001355663]	Chr19:48398852 [GRCh38] Chr19:48902109 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3529G>A (p.Ala1177Thr)	single nucleotide variant	not provided [RCV001310419]	Chr19:48443455 [GRCh38] Chr19:48946712 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1389G>A (p.Arg463=)	single nucleotide variant	not provided [RCV001516305]	Chr19:48414561 [GRCh38] Chr19:48917818 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.3244A>G (p.Thr1082Ala)	single nucleotide variant	GRIN2D-related disorder [RCV004752006]\|Inborn genetic diseases [RCV002568906]\|not provided [RCV001532385]	Chr19:48443170 [GRCh38] Chr19:48946427 [GRCh37] Chr19:19q13.33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000836.4(GRIN2D):c.1426G>A (p.Ala476Thr)	single nucleotide variant	Inborn genetic diseases [RCV004037188]\|not provided [RCV001479123]	Chr19:48414877 [GRCh38] Chr19:48918134 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1582-6C>T	single nucleotide variant	not provided [RCV001592622]	Chr19:48415996 [GRCh38] Chr19:48919253 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3628C>T (p.Pro1210Ser)	single nucleotide variant	GRIN2D-related disorder [RCV003908879]\|Inborn genetic diseases [RCV002568869]\|not provided [RCV001528725]	Chr19:48443554 [GRCh38] Chr19:48946811 [GRCh37] Chr19:19q13.33	benign\|likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.3657G>A (p.Leu1219=)	single nucleotide variant	not provided [RCV001521055]	Chr19:48443583 [GRCh38] Chr19:48946840 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.1201-5C>T	single nucleotide variant	not provided [RCV001727108]	Chr19:48414368 [GRCh38] Chr19:48917625 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.426G>T (p.Val142=)	single nucleotide variant	not provided [RCV002104282]	Chr19:48398818 [GRCh38] Chr19:48902075 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.460C>G (p.Pro154Ala)	single nucleotide variant	not provided [RCV001764135]	Chr19:48398852 [GRCh38] Chr19:48902109 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3035G>C (p.Arg1012Pro)	single nucleotide variant	Inborn genetic diseases [RCV004040747]\|not provided [RCV003238685]	Chr19:48442961 [GRCh38] Chr19:48946218 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.263C>T (p.Ala88Val)	single nucleotide variant	not provided [RCV001885110]	Chr19:48398655 [GRCh38] Chr19:48901912 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.665C>T (p.Thr222Met)	single nucleotide variant	not provided [RCV001763570]	Chr19:48404933 [GRCh38] Chr19:48908190 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2166_2186dup (p.Ile722_Asp728dup)	duplication	not provided [RCV001765053]	Chr19:48421854..48421855 [GRCh38] Chr19:48925111..48925112 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1718C>T (p.Ser573Phe)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001785273]	Chr19:48416138 [GRCh38] Chr19:48919395 [GRCh37] Chr19:19q13.33	pathogenic
NM_000836.4(GRIN2D):c.2033C>A (p.Ala678Asp)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001785274]	Chr19:48419756 [GRCh38] Chr19:48923013 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_000836.4(GRIN2D):c.3937C>T (p.Arg1313Trp)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001785276]	Chr19:48443863 [GRCh38] Chr19:48947120 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3812C>T (p.Ser1271Leu)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001785275]\|not provided [RCV005095140]	Chr19:48443738 [GRCh38] Chr19:48946995 [GRCh37] Chr19:19q13.33	likely pathogenic\|uncertain significance
NM_000836.4(GRIN2D):c.1793C>T (p.Ala598Val)	single nucleotide variant	not provided [RCV001763806]	Chr19:48419291 [GRCh38] Chr19:48922548 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.221_226delinsGGGCGA (p.Ala74_Ala76delinsGlyAlaThr)	indel	not provided [RCV001768538]	Chr19:48398613..48398618 [GRCh38] Chr19:48901870..48901875 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3475G>T (p.Gly1159Trp)	single nucleotide variant	not provided [RCV001786746]	Chr19:48443401 [GRCh38] Chr19:48946658 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.250G>C (p.Val84Leu)	single nucleotide variant	not provided [RCV001765213]	Chr19:48398642 [GRCh38] Chr19:48901899 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3743C>T (p.Pro1248Leu)	single nucleotide variant	not provided [RCV001769242]	Chr19:48443669 [GRCh38] Chr19:48946926 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3893C>T (p.Pro1298Leu)	single nucleotide variant	not provided [RCV001771131]	Chr19:48443819 [GRCh38] Chr19:48947076 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1581+5G>T	single nucleotide variant	not provided [RCV001774412]	Chr19:48415037 [GRCh38] Chr19:48918294 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2533A>G (p.Met845Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001785277]\|not provided [RCV002300591]	Chr19:48442242 [GRCh38] Chr19:48945499 [GRCh37] Chr19:19q13.33	likely pathogenic\|uncertain significance
NM_000836.4(GRIN2D):c.3G>C (p.Met1Ile)	single nucleotide variant	not provided [RCV001757205]	Chr19:48398395 [GRCh38] Chr19:48901652 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.860C>T (p.Ala287Val)	single nucleotide variant	not provided [RCV001758860]	Chr19:48405128 [GRCh38] Chr19:48908385 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2029C>G (p.Leu677Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001808954]	Chr19:48419752 [GRCh38] Chr19:48923009 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_000836.4(GRIN2D):c.3340GACTCGGAG[3] (p.1114DSE[3])	microsatellite	Developmental and epileptic encephalopathy, 46 [RCV001808955]\|not provided [RCV005095220]	Chr19:48443264..48443265 [GRCh38] Chr19:48946521..48946522 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1381C>T (p.Pro461Ser)	single nucleotide variant	not provided [RCV001907607]	Chr19:48414553 [GRCh38] Chr19:48917810 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2446A>C (p.Ile816Leu)	single nucleotide variant	not provided [RCV001929736]	Chr19:48442155 [GRCh38] Chr19:48945412 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2740C>A (p.Pro914Thr)	single nucleotide variant	not provided [RCV001987640]	Chr19:48442666 [GRCh38] Chr19:48945923 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3605T>C (p.Leu1202Pro)	single nucleotide variant	not provided [RCV002008514]	Chr19:48443531 [GRCh38] Chr19:48946788 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3231_3239dup (p.1076AGG[3])	duplication	not provided [RCV002003882]	Chr19:48443148..48443149 [GRCh38] Chr19:48946405..48946406 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.380C>G (p.Ala127Gly)	single nucleotide variant	not provided [RCV001947438]	Chr19:48398772 [GRCh38] Chr19:48902029 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3357G>C (p.Glu1119Asp)	single nucleotide variant	not provided [RCV002008266]	Chr19:48443283 [GRCh38] Chr19:48946540 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1117G>A (p.Asp373Asn)	single nucleotide variant	not provided [RCV002009449]	Chr19:48414022 [GRCh38] Chr19:48917279 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2497A>G (p.Ile833Val)	single nucleotide variant	not provided [RCV002004109]	Chr19:48442206 [GRCh38] Chr19:48945463 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3383G>T (p.Gly1128Val)	single nucleotide variant	not provided [RCV001927246]	Chr19:48443309 [GRCh38] Chr19:48946566 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.800G>A (p.Gly267Glu)	single nucleotide variant	not provided [RCV002041540]	Chr19:48405068 [GRCh38] Chr19:48908325 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2023G>C (p.Ala675Pro)	single nucleotide variant	not provided [RCV001966853]	Chr19:48419746 [GRCh38] Chr19:48923003 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2723C>T (p.Pro908Leu)	single nucleotide variant	not provided [RCV001914953]	Chr19:48442649 [GRCh38] Chr19:48945906 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1225C>G (p.Leu409Val)	single nucleotide variant	not provided [RCV001864050]	Chr19:48414397 [GRCh38] Chr19:48917654 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3028A>C (p.Ile1010Leu)	single nucleotide variant	Inborn genetic diseases [RCV004044304]\|not provided [RCV001929273]	Chr19:48442954 [GRCh38] Chr19:48946211 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2857G>C (p.Gly953Arg)	single nucleotide variant	Inborn genetic diseases [RCV002547899]\|not provided [RCV001863270]	Chr19:48442783 [GRCh38] Chr19:48946040 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2222T>C (p.Val741Ala)	single nucleotide variant	not provided [RCV001863888]	Chr19:48421915 [GRCh38] Chr19:48925172 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2860G>A (p.Gly954Ser)	single nucleotide variant	Inborn genetic diseases [RCV003375508]\|not provided [RCV001970859]	Chr19:48442786 [GRCh38] Chr19:48946043 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2995C>T (p.Pro999Ser)	single nucleotide variant	not provided [RCV002008834]	Chr19:48442921 [GRCh38] Chr19:48946178 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2091+3G>A	single nucleotide variant	not provided [RCV001971501]	Chr19:48419817 [GRCh38] Chr19:48923074 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3212T>C (p.Leu1071Pro)	single nucleotide variant	not provided [RCV002003299]	Chr19:48443138 [GRCh38] Chr19:48946395 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.871C>A (p.Pro291Thr)	single nucleotide variant	Inborn genetic diseases [RCV003250410]\|not provided [RCV002045090]	Chr19:48405139 [GRCh38] Chr19:48908396 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2906A>G (p.Glu969Gly)	single nucleotide variant	not provided [RCV001950347]	Chr19:48442832 [GRCh38] Chr19:48946089 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.577C>T (p.Arg193Cys)	single nucleotide variant	not provided [RCV001873941]	Chr19:48404845 [GRCh38] Chr19:48908102 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2852C>T (p.Pro951Leu)	single nucleotide variant	Inborn genetic diseases [RCV004039652]\|not provided [RCV001894218]	Chr19:48442778 [GRCh38] Chr19:48946035 [GRCh37] Chr19:19q13.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_000836.4(GRIN2D):c.3335C>G (p.Pro1112Arg)	single nucleotide variant	not provided [RCV002043265]	Chr19:48443261 [GRCh38] Chr19:48946518 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3118G>A (p.Ala1040Thr)	single nucleotide variant	not provided [RCV001824543]	Chr19:48443044 [GRCh38] Chr19:48946301 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2779C>T (p.Pro927Ser)	single nucleotide variant	not provided [RCV001966552]	Chr19:48442705 [GRCh38] Chr19:48945962 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.907G>A (p.Gly303Arg)	single nucleotide variant	not provided [RCV002042316]	Chr19:48405175 [GRCh38] Chr19:48908432 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1422G>A (p.Pro474=)	single nucleotide variant	not provided [RCV001985980]	Chr19:48414873 [GRCh38] Chr19:48918130 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.390del (p.Asp131fs)	deletion	not provided [RCV001964683]	Chr19:48398782 [GRCh38] Chr19:48902039 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.446C>T (p.Ala149Val)	single nucleotide variant	not provided [RCV002040963]	Chr19:48398838 [GRCh38] Chr19:48902095 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3830C>T (p.Ser1277Leu)	single nucleotide variant	not provided [RCV002021127]	Chr19:48443756 [GRCh38] Chr19:48947013 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3371del (p.Ala1124fs)	deletion	not provided [RCV002042494]	Chr19:48443297 [GRCh38] Chr19:48946554 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.465+18G>A	single nucleotide variant	not provided [RCV002039431]	Chr19:48398875 [GRCh38] Chr19:48902132 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.3231_3239del (p.1076AGG[1])	deletion	not provided [RCV001909198]	Chr19:48443149..48443157 [GRCh38] Chr19:48946406..48946414 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3442C>T (p.Pro1148Ser)	single nucleotide variant	not provided [RCV001965768]	Chr19:48443368 [GRCh38] Chr19:48946625 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2314G>A (p.Gly772Ser)	single nucleotide variant	not provided [RCV001965826]	Chr19:48441830 [GRCh38] Chr19:48945087 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2945C>A (p.Ala982Glu)	single nucleotide variant	not provided [RCV001893907]	Chr19:48442871 [GRCh38] Chr19:48946128 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3835C>T (p.Pro1279Ser)	single nucleotide variant	Inborn genetic diseases [RCV005350712]\|not provided [RCV001891218]	Chr19:48443761 [GRCh38] Chr19:48947018 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3244_3252del (p.Thr1082_Gly1084del)	deletion	not provided [RCV001967135]	Chr19:48443162..48443170 [GRCh38] Chr19:48946419..48946427 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3787C>T (p.Pro1263Ser)	single nucleotide variant	not provided [RCV001986582]	Chr19:48443713 [GRCh38] Chr19:48946970 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1603A>G (p.Met535Val)	single nucleotide variant	not provided [RCV002020453]	Chr19:48416023 [GRCh38] Chr19:48919280 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1172C>T (p.Ser391Phe)	single nucleotide variant	not provided [RCV001984769]	Chr19:48414077 [GRCh38] Chr19:48917334 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2861G>T (p.Gly954Val)	single nucleotide variant	not provided [RCV002041455]	Chr19:48442787 [GRCh38] Chr19:48946044 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3524C>T (p.Pro1175Leu)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002052150]	Chr19:48443450 [GRCh38] Chr19:48946707 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3512C>G (p.Pro1171Arg)	single nucleotide variant	not provided [RCV002022554]	Chr19:48443438 [GRCh38] Chr19:48946695 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.893C>T (p.Ala298Val)	single nucleotide variant	not provided [RCV002002741]	Chr19:48405161 [GRCh38] Chr19:48908418 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.715G>A (p.Val239Ile)	single nucleotide variant	not provided [RCV002004603]	Chr19:48404983 [GRCh38] Chr19:48908240 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2926G>C (p.Gly976Arg)	single nucleotide variant	not provided [RCV001910607]\|not specified [RCV003994356]	Chr19:48442852 [GRCh38] Chr19:48946109 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3637C>T (p.Pro1213Ser)	single nucleotide variant	GRIN2D-related disorder [RCV003418263]\|Inborn genetic diseases [RCV005350803]\|not provided [RCV001968459]	Chr19:48443563 [GRCh38] Chr19:48946820 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2154G>A (p.Thr718=)	single nucleotide variant	not provided [RCV002005078]	Chr19:48421847 [GRCh38] Chr19:48925104 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.3055C>T (p.Pro1019Ser)	single nucleotide variant	not provided [RCV001894442]	Chr19:48442981 [GRCh38] Chr19:48946238 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.193G>A (p.Glu65Lys)	single nucleotide variant	not provided [RCV001986408]	Chr19:48398585 [GRCh38] Chr19:48901842 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3305C>G (p.Pro1102Arg)	single nucleotide variant	not provided [RCV002003227]	Chr19:48443231 [GRCh38] Chr19:48946488 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1581+6G>C	single nucleotide variant	not provided [RCV001912680]	Chr19:48415038 [GRCh38] Chr19:48918295 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2478G>T (p.Gly826=)	single nucleotide variant	not provided [RCV001982830]	Chr19:48442187 [GRCh38] Chr19:48945444 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.2182G>A (p.Asp728Asn)	single nucleotide variant	not provided [RCV001913465]	Chr19:48421875 [GRCh38] Chr19:48925132 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3976T>A (p.Ser1326Thr)	single nucleotide variant	not provided [RCV001986124]	Chr19:48443902 [GRCh38] Chr19:48947159 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3766G>A (p.Ala1256Thr)	single nucleotide variant	Inborn genetic diseases [RCV004043134]\|not provided [RCV001967822]	Chr19:48443692 [GRCh38] Chr19:48946949 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2649G>A (p.Met883Ile)	single nucleotide variant	not provided [RCV001928092]	Chr19:48442358 [GRCh38] Chr19:48945615 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3064G>A (p.Gly1022Ser)	single nucleotide variant	not provided [RCV001986579]	Chr19:48442990 [GRCh38] Chr19:48946247 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2985G>A (p.Pro995=)	single nucleotide variant	not provided [RCV001969532]	Chr19:48442911 [GRCh38] Chr19:48946168 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.3263G>A (p.Gly1088Glu)	single nucleotide variant	not provided [RCV001969596]	Chr19:48443189 [GRCh38] Chr19:48946446 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3664C>A (p.Arg1222Ser)	single nucleotide variant	Inborn genetic diseases [RCV005350774]\|not provided [RCV001984596]	Chr19:48443590 [GRCh38] Chr19:48946847 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.139G>T (p.Gly47Trp)	single nucleotide variant	Inborn genetic diseases [RCV002571194]\|not provided [RCV001966127]	Chr19:48398531 [GRCh38] Chr19:48901788 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1558G>A (p.Val520Ile)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002227571]\|not provided [RCV001983363]	Chr19:48415009 [GRCh38] Chr19:48918266 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.922C>T (p.Arg308Cys)	single nucleotide variant	not provided [RCV002043720]	Chr19:48405190 [GRCh38] Chr19:48908447 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.446C>G (p.Ala149Gly)	single nucleotide variant	See cases [RCV002252744]\|not provided [RCV001969359]	Chr19:48398838 [GRCh38] Chr19:48902095 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.124G>A (p.Gly42Ser)	single nucleotide variant	not provided [RCV001965562]	Chr19:48398516 [GRCh38] Chr19:48901773 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3150C>A (p.Phe1050Leu)	single nucleotide variant	not provided [RCV001945654]	Chr19:48443076 [GRCh38] Chr19:48946333 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3253G>A (p.Ala1085Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV001839173]\|not provided [RCV002034707]	Chr19:48443179 [GRCh38] Chr19:48946436 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1040A>T (p.Asp347Val)	single nucleotide variant	not provided [RCV001961760]	Chr19:48405308 [GRCh38] Chr19:48908565 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.13G>T (p.Gly5Cys)	single nucleotide variant	not provided [RCV001981465]	Chr19:48398405 [GRCh38] Chr19:48901662 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3298C>T (p.Pro1100Ser)	single nucleotide variant	Inborn genetic diseases [RCV004980777]\|not provided [RCV001888036]	Chr19:48443224 [GRCh38] Chr19:48946481 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3761G>C (p.Arg1254Pro)	single nucleotide variant	not provided [RCV001942670]	Chr19:48443687 [GRCh38] Chr19:48946944 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3706_3723del (p.Pro1236_Arg1241del)	deletion	Developmental and epileptic encephalopathy, 46 [RCV003483848]\|not provided [RCV001888456]	Chr19:48443624..48443641 [GRCh38] Chr19:48946881..48946898 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance\|not provided
NM_000836.4(GRIN2D):c.1413-3C>T	single nucleotide variant	not provided [RCV001867208]	Chr19:48414861 [GRCh38] Chr19:48918118 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3490G>A (p.Gly1164Arg)	single nucleotide variant	not provided [RCV002048140]	Chr19:48443416 [GRCh38] Chr19:48946673 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3678C>T (p.Cys1226=)	single nucleotide variant	not provided [RCV001887725]	Chr19:48443604 [GRCh38] Chr19:48946861 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.3499G>C (p.Asp1167His)	single nucleotide variant	not provided [RCV001888555]	Chr19:48443425 [GRCh38] Chr19:48946682 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.830C>G (p.Pro277Arg)	single nucleotide variant	not provided [RCV001999543]	Chr19:48405098 [GRCh38] Chr19:48908355 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.7G>A (p.Gly3Ser)	single nucleotide variant	not provided [RCV002027054]	Chr19:48398399 [GRCh38] Chr19:48901656 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3752A>C (p.His1251Pro)	single nucleotide variant	Inborn genetic diseases [RCV002563401]\|not provided [RCV001941366]	Chr19:48443678 [GRCh38] Chr19:48946935 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.49CTG[5] (p.Leu20dup)	microsatellite	Developmental and epileptic encephalopathy, 46 [RCV003134316]\|not provided [RCV002000502]	Chr19:48398438..48398439 [GRCh38] Chr19:48901695..48901696 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.874C>A (p.Pro292Thr)	single nucleotide variant	not provided [RCV001887771]	Chr19:48405142 [GRCh38] Chr19:48908399 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3733G>A (p.Ala1245Thr)	single nucleotide variant	not provided [RCV002001294]	Chr19:48443659 [GRCh38] Chr19:48946916 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.30_38del (p.8RGP[1])	deletion	not provided [RCV001943292]	Chr19:48398417..48398425 [GRCh38] Chr19:48901674..48901682 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2818G>A (p.Val940Met)	single nucleotide variant	not provided [RCV001980399]	Chr19:48442744 [GRCh38] Chr19:48946001 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1862-7C>A	single nucleotide variant	not provided [RCV001944112]	Chr19:48419578 [GRCh38] Chr19:48922835 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.2956G>T (p.Gly986Cys)	single nucleotide variant	not provided [RCV001886882]	Chr19:48442882 [GRCh38] Chr19:48946139 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1852A>C (p.Thr618Pro)	single nucleotide variant	not provided [RCV001961439]	Chr19:48419350 [GRCh38] Chr19:48922607 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3613G>A (p.Gly1205Ser)	single nucleotide variant	not provided [RCV001941468]	Chr19:48443539 [GRCh38] Chr19:48946796 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2446A>T (p.Ile816Phe)	single nucleotide variant	not provided [RCV001963491]	Chr19:48442155 [GRCh38] Chr19:48945412 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2861G>C (p.Gly954Ala)	single nucleotide variant	not provided [RCV001980787]	Chr19:48442787 [GRCh38] Chr19:48946044 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3322C>T (p.Leu1108Phe)	single nucleotide variant	not provided [RCV001902671]	Chr19:48443248 [GRCh38] Chr19:48946505 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.562G>T (p.Val188Leu)	single nucleotide variant	Inborn genetic diseases [RCV003264235]\|not provided [RCV001906741]\|not specified [RCV005409086]	Chr19:48404830 [GRCh38] Chr19:48908087 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.3235_3243del (p.1076AGG[1])	deletion	not provided [RCV001905079]	Chr19:48443158..48443166 [GRCh38] Chr19:48946415..48946423 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3259G>A (p.Gly1087Arg)	single nucleotide variant	not provided [RCV001979544]	Chr19:48443185 [GRCh38] Chr19:48946442 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3895C>G (p.His1299Asp)	single nucleotide variant	not provided [RCV001989387]	Chr19:48443821 [GRCh38] Chr19:48947078 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2962G>C (p.Ala988Pro)	single nucleotide variant	not provided [RCV001933439]	Chr19:48442888 [GRCh38] Chr19:48946145 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2804G>T (p.Arg935Leu)	single nucleotide variant	Inborn genetic diseases [RCV004044810]\|not provided [RCV002038804]	Chr19:48442730 [GRCh38] Chr19:48945987 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.497C>T (p.Ser166Phe)	single nucleotide variant	not provided [RCV001962352]	Chr19:48404765 [GRCh38] Chr19:48908022 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.436G>T (p.Gly146Cys)	single nucleotide variant	not provided [RCV001989537]	Chr19:48398828 [GRCh38] Chr19:48902085 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3344C>T (p.Ser1115Leu)	single nucleotide variant	not provided [RCV001916320]	Chr19:48443270 [GRCh38] Chr19:48946527 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.298G>C (p.Val100Leu)	single nucleotide variant	not provided [RCV001995543]	Chr19:48398690 [GRCh38] Chr19:48901947 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2858G>A (p.Gly953Glu)	single nucleotide variant	not provided [RCV002050563]	Chr19:48442784 [GRCh38] Chr19:48946041 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3278C>T (p.Pro1093Leu)	single nucleotide variant	not provided [RCV002012984]	Chr19:48443204 [GRCh38] Chr19:48946461 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.114_143dup (p.Gly39_Ala48dup)	duplication	not provided [RCV002032000]	Chr19:48398497..48398498 [GRCh38] Chr19:48901754..48901755 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.136G>T (p.Gly46Cys)	single nucleotide variant	not provided [RCV001993543]	Chr19:48398528 [GRCh38] Chr19:48901785 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2800C>T (p.Pro934Ser)	single nucleotide variant	not provided [RCV001992252]	Chr19:48442726 [GRCh38] Chr19:48945983 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.412T>G (p.Ser138Ala)	single nucleotide variant	Inborn genetic diseases [RCV002571235]\|not provided [RCV001993624]	Chr19:48398804 [GRCh38] Chr19:48902061 [GRCh37] Chr19:19q13.33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000836.4(GRIN2D):c.3974G>A (p.Gly1325Asp)	single nucleotide variant	not provided [RCV001976745]	Chr19:48443900 [GRCh38] Chr19:48947157 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3968G>A (p.Arg1323His)	single nucleotide variant	not provided [RCV001955874]	Chr19:48443894 [GRCh38] Chr19:48947151 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2024C>A (p.Ala675Asp)	single nucleotide variant	not provided [RCV002010598]	Chr19:48419747 [GRCh38] Chr19:48923004 [GRCh37] Chr19:19q13.33	pathogenic\|uncertain significance
NM_000836.4(GRIN2D):c.1190C>T (p.Thr397Met)	single nucleotide variant	Inborn genetic diseases [RCV004044217]\|not provided [RCV001921307]	Chr19:48414095 [GRCh38] Chr19:48917352 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.455T>C (p.Leu152Pro)	single nucleotide variant	not provided [RCV001902010]	Chr19:48398847 [GRCh38] Chr19:48902104 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.926C>T (p.Ser309Leu)	single nucleotide variant	not provided [RCV002028819]	Chr19:48405194 [GRCh38] Chr19:48908451 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3113C>T (p.Ala1038Val)	single nucleotide variant	not provided [RCV001989081]	Chr19:48443039 [GRCh38] Chr19:48946296 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1387C>A (p.Arg463=)	single nucleotide variant	not provided [RCV002028749]	Chr19:48414559 [GRCh38] Chr19:48917816 [GRCh37] Chr19:19q13.33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000836.4(GRIN2D):c.988G>A (p.Gly330Ser)	single nucleotide variant	not provided [RCV001922729]	Chr19:48405256 [GRCh38] Chr19:48908513 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2735C>G (p.Pro912Arg)	single nucleotide variant	Inborn genetic diseases [RCV005350855]\|not provided [RCV002011104]	Chr19:48442661 [GRCh38] Chr19:48945918 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1855G>A (p.Gly619Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003130670]\|not provided [RCV001991702]	Chr19:48419353 [GRCh38] Chr19:48922610 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3346G>A (p.Glu1116Lys)	single nucleotide variant	not provided [RCV001901140]	Chr19:48443272 [GRCh38] Chr19:48946529 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3925A>G (p.Thr1309Ala)	single nucleotide variant	not provided [RCV001973474]	Chr19:48443851 [GRCh38] Chr19:48947108 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3947G>T (p.Arg1316Leu)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003130622]\|Inborn genetic diseases [RCV004042907]\|not provided [RCV001972211]	Chr19:48443873 [GRCh38] Chr19:48947130 [GRCh37] Chr19:19q13.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_000836.4(GRIN2D):c.3972G>C (p.Arg1324Ser)	single nucleotide variant	not provided [RCV001973580]	Chr19:48443898 [GRCh38] Chr19:48947155 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3272C>A (p.Ala1091Asp)	single nucleotide variant	not provided [RCV001918641]	Chr19:48443198 [GRCh38] Chr19:48946455 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3661_3686del (p.Arg1221fs)	deletion	not provided [RCV001897452]	Chr19:48443582..48443607 [GRCh38] Chr19:48946839..48946864 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.430G>T (p.Val144Leu)	single nucleotide variant	not provided [RCV002010056]	Chr19:48398822 [GRCh38] Chr19:48902079 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3674G>T (p.Arg1225Leu)	single nucleotide variant	not provided [RCV001917599]	Chr19:48443600 [GRCh38] Chr19:48946857 [GRCh37] Chr19:19q13.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_000836.4(GRIN2D):c.2136C>T (p.Thr712=)	single nucleotide variant	not provided [RCV001951470]	Chr19:48421829 [GRCh38] Chr19:48925086 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2697_2698delinsCC (p.Glu900Gln)	indel	not provided [RCV002026686]	Chr19:48442623..48442624 [GRCh38] Chr19:48945880..48945881 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2782G>A (p.Gly928Arg)	single nucleotide variant	not provided [RCV001918875]	Chr19:48442708 [GRCh38] Chr19:48945965 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.9:g.(?_48945006)_(48947194_?)dup	duplication	not provided [RCV001900337]	Chr19:48945006..48947194 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3754A>T (p.Arg1252Trp)	single nucleotide variant	not provided [RCV001996414]	Chr19:48443680 [GRCh38] Chr19:48946937 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.720C>T (p.Ser240=)	single nucleotide variant	not provided [RCV001938994]	Chr19:48404988 [GRCh38] Chr19:48908245 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.1581+8G>T	single nucleotide variant	not provided [RCV002049295]	Chr19:48415040 [GRCh38] Chr19:48918297 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3293_3294delinsTA (p.Ala1098Val)	indel	not provided [RCV001978614]	Chr19:48443219..48443220 [GRCh38] Chr19:48946476..48946477 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2819T>C (p.Val940Ala)	single nucleotide variant	not provided [RCV001979440]	Chr19:48442745 [GRCh38] Chr19:48946002 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.965C>T (p.Ala322Val)	single nucleotide variant	not provided [RCV001981755]	Chr19:48405233 [GRCh38] Chr19:48908490 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1581+3G>A	single nucleotide variant	not provided [RCV002028234]	Chr19:48415035 [GRCh38] Chr19:48918292 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2697_2698inv (p.Glu900Lys)	inversion	not provided [RCV001938445]	Chr19:48442623..48442624 [GRCh38] Chr19:48945880..48945881 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.87G>A (p.Pro29=)	single nucleotide variant	not provided [RCV001995786]	Chr19:48398479 [GRCh38] Chr19:48901736 [GRCh37] Chr19:19q13.33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000836.4(GRIN2D):c.3340GACTCGGAG[1] (p.1114DSE[1])	microsatellite	not provided [RCV001976937]	Chr19:48443265..48443273 [GRCh38] Chr19:48946522..48946530 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.194_217dup (p.Glu65_Ala72dup)	duplication	not provided [RCV001922651]	Chr19:48398579..48398580 [GRCh38] Chr19:48901836..48901837 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1178C>G (p.Thr393Ser)	single nucleotide variant	not provided [RCV002033063]	Chr19:48414083 [GRCh38] Chr19:48917340 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3277C>G (p.Pro1093Ala)	single nucleotide variant	Inborn genetic diseases [RCV002560464]\|not provided [RCV001921739]	Chr19:48443203 [GRCh38] Chr19:48946460 [GRCh37] Chr19:19q13.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_000836.4(GRIN2D):c.1413-5C>T	single nucleotide variant	not provided [RCV002035112]	Chr19:48414859 [GRCh38] Chr19:48918116 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.3160A>G (p.Ser1054Gly)	single nucleotide variant	not provided [RCV001997819]	Chr19:48443086 [GRCh38] Chr19:48946343 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3793C>T (p.Pro1265Ser)	single nucleotide variant	not provided [RCV002051160]	Chr19:48443719 [GRCh38] Chr19:48946976 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3318C>A (p.Leu1106=)	single nucleotide variant	not provided [RCV001932959]	Chr19:48443244 [GRCh38] Chr19:48946501 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.3383G>A (p.Gly1128Asp)	single nucleotide variant	not provided [RCV002048605]	Chr19:48443309 [GRCh38] Chr19:48946566 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.973G>A (p.Ala325Thr)	single nucleotide variant	not provided [RCV001876831]	Chr19:48405241 [GRCh38] Chr19:48908498 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3140G>T (p.Arg1047Leu)	single nucleotide variant	not provided [RCV002031358]	Chr19:48443066 [GRCh38] Chr19:48946323 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3479G>A (p.Gly1160Asp)	single nucleotide variant	Inborn genetic diseases [RCV005350850]\|not provided [RCV002015701]	Chr19:48443405 [GRCh38] Chr19:48946662 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2253G>A (p.Gly751=)	single nucleotide variant	not provided [RCV001957139]	Chr19:48441769 [GRCh38] Chr19:48945026 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3034C>T (p.Arg1012Cys)	single nucleotide variant	not provided [RCV001906683]	Chr19:48442960 [GRCh38] Chr19:48946217 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.114_143del (p.Gly39_Ala48del)	deletion	not provided [RCV001903334]	Chr19:48398498..48398527 [GRCh38] Chr19:48901755..48901784 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2662G>A (p.Ala888Thr)	single nucleotide variant	not provided [RCV001922022]	Chr19:48442371 [GRCh38] Chr19:48945628 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3349G>A (p.Asp1117Asn)	single nucleotide variant	Inborn genetic diseases [RCV004042291]\|not provided [RCV001976266]	Chr19:48443275 [GRCh38] Chr19:48946532 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1067G>A (p.Arg356His)	single nucleotide variant	not provided [RCV002031523]	Chr19:48405335 [GRCh38] Chr19:48908592 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2957G>A (p.Gly986Asp)	single nucleotide variant	Inborn genetic diseases [RCV003264194]\|not provided [RCV001881933]	Chr19:48442883 [GRCh38] Chr19:48946140 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3623C>T (p.Ala1208Val)	single nucleotide variant	not provided [RCV001923720]	Chr19:48443549 [GRCh38] Chr19:48946806 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3667C>T (p.Arg1223Trp)	single nucleotide variant	not provided [RCV001989497]	Chr19:48443593 [GRCh38] Chr19:48946850 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1919T>C (p.Val640Ala)	single nucleotide variant	not provided [RCV001995281]	Chr19:48419642 [GRCh38] Chr19:48922899 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1581G>A (p.Glu527=)	single nucleotide variant	not provided [RCV001905111]	Chr19:48415032 [GRCh38] Chr19:48918289 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3182G>C (p.Trp1061Ser)	single nucleotide variant	not provided [RCV001932035]	Chr19:48443108 [GRCh38] Chr19:48946365 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.998C>A (p.Ala333Asp)	single nucleotide variant	not provided [RCV001922164]	Chr19:48405266 [GRCh38] Chr19:48908523 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3052G>A (p.Glu1018Lys)	single nucleotide variant	not provided [RCV002018494]	Chr19:48442978 [GRCh38] Chr19:48946235 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3523C>G (p.Pro1175Ala)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003134267]\|not provided [RCV001959809]	Chr19:48443449 [GRCh38] Chr19:48946706 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2985_2987delinsATA (p.Ala996Tyr)	indel	not provided [RCV001982332]	Chr19:48442911..48442913 [GRCh38] Chr19:48946168..48946170 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.736C>T (p.Leu246Phe)	single nucleotide variant	not provided [RCV001940844]	Chr19:48405004 [GRCh38] Chr19:48908261 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2749A>G (p.Ser917Gly)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003128437]\|Inborn genetic diseases [RCV004980855]\|not provided [RCV001886311]	Chr19:48442675 [GRCh38] Chr19:48945932 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.344T>C (p.Val115Ala)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002281586]\|not provided [RCV002035707]	Chr19:48398736 [GRCh38] Chr19:48901993 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2763C>A (p.Pro921=)	single nucleotide variant	not provided [RCV001977313]	Chr19:48442689 [GRCh38] Chr19:48945946 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.3929C>G (p.Ala1310Gly)	single nucleotide variant	Inborn genetic diseases [RCV004975760]\|not provided [RCV001897255]	Chr19:48443855 [GRCh38] Chr19:48947112 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2945C>T (p.Ala982Val)	single nucleotide variant	not provided [RCV002016828]	Chr19:48442871 [GRCh38] Chr19:48946128 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup	duplication	Developmental and epileptic encephalopathy, 12 [RCV001939968]\|not provided [RCV001916178]	Chr19:48618906..50921204 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2585T>G (p.Val862Gly)	single nucleotide variant	not provided [RCV001974299]	Chr19:48442294 [GRCh38] Chr19:48945551 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.221C>A (p.Ala74Glu)	single nucleotide variant	not provided [RCV002012778]	Chr19:48398613 [GRCh38] Chr19:48901870 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1736-5C>G	single nucleotide variant	not provided [RCV002051147]	Chr19:48419229 [GRCh38] Chr19:48922486 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.422T>C (p.Ile141Thr)	single nucleotide variant	not provided [RCV002012821]	Chr19:48398814 [GRCh38] Chr19:48902071 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1795G>C (p.Val599Leu)	single nucleotide variant	not provided [RCV001957133]	Chr19:48419293 [GRCh38] Chr19:48922550 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.402G>A (p.Ser134=)	single nucleotide variant	not provided [RCV001903519]	Chr19:48398794 [GRCh38] Chr19:48902051 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.1330A>G (p.Ile444Val)	single nucleotide variant	not provided [RCV001919984]	Chr19:48414502 [GRCh38] Chr19:48917759 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2946G>T (p.Ala982=)	single nucleotide variant	not provided [RCV002166041]	Chr19:48442872 [GRCh38] Chr19:48946129 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2441-13C>T	single nucleotide variant	not provided [RCV002189100]	Chr19:48442137 [GRCh38] Chr19:48945394 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2092-20C>T	single nucleotide variant	not provided [RCV002190365]	Chr19:48421765 [GRCh38] Chr19:48925022 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2559G>C (p.Leu853=)	single nucleotide variant	not provided [RCV002190370]	Chr19:48442268 [GRCh38] Chr19:48945525 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3246G>T (p.Thr1082=)	single nucleotide variant	not provided [RCV002090153]	Chr19:48443172 [GRCh38] Chr19:48946429 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2181C>T (p.Pro727=)	single nucleotide variant	GRIN2D-related disorder [RCV003958630]\|not provided [RCV002085691]	Chr19:48421874 [GRCh38] Chr19:48925131 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.975C>T (p.Ala325=)	single nucleotide variant	not provided [RCV002184922]	Chr19:48405243 [GRCh38] Chr19:48908500 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1104G>C (p.Thr368=)	single nucleotide variant	not provided [RCV002085528]	Chr19:48414009 [GRCh38] Chr19:48917266 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3531C>T (p.Ala1177=)	single nucleotide variant	not provided [RCV002073717]	Chr19:48443457 [GRCh38] Chr19:48946714 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1905G>T (p.Leu635=)	single nucleotide variant	GRIN2D-related disorder [RCV003916299]\|not provided [RCV002128697]	Chr19:48419628 [GRCh38] Chr19:48922885 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.387C>A (p.Ile129=)	single nucleotide variant	not provided [RCV002124875]	Chr19:48398779 [GRCh38] Chr19:48902036 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.2253-18C>T	single nucleotide variant	not provided [RCV002205183]	Chr19:48441751 [GRCh38] Chr19:48945008 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2673+12A>G	single nucleotide variant	not provided [RCV002191712]	Chr19:48442394 [GRCh38] Chr19:48945651 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3093C>T (p.Pro1031=)	single nucleotide variant	not provided [RCV002108411]	Chr19:48443019 [GRCh38] Chr19:48946276 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3436G>C (p.Gly1146Arg)	single nucleotide variant	Inborn genetic diseases [RCV004982914]\|not provided [RCV002110187]	Chr19:48443362 [GRCh38] Chr19:48946619 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.2031G>A (p.Leu677=)	single nucleotide variant	not provided [RCV002167982]	Chr19:48419754 [GRCh38] Chr19:48923011 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3381C>G (p.Gly1127=)	single nucleotide variant	not provided [RCV002090343]	Chr19:48443307 [GRCh38] Chr19:48946564 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.711C>G (p.Arg237=)	single nucleotide variant	not provided [RCV002190693]	Chr19:48404979 [GRCh38] Chr19:48908236 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2796C>T (p.Phe932=)	single nucleotide variant	not provided [RCV002189195]	Chr19:48442722 [GRCh38] Chr19:48945979 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.141G>A (p.Gly47=)	single nucleotide variant	not provided [RCV002208898]	Chr19:48398533 [GRCh38] Chr19:48901790 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1581+13A>G	single nucleotide variant	not provided [RCV002072728]	Chr19:48415045 [GRCh38] Chr19:48918302 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1191G>T (p.Thr397=)	single nucleotide variant	not provided [RCV002205043]	Chr19:48414096 [GRCh38] Chr19:48917353 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.721G>A (p.Ala241Thr)	single nucleotide variant	not provided [RCV002126645]\|not specified [RCV005406374]	Chr19:48404989 [GRCh38] Chr19:48908246 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.3387G>C (p.Leu1129=)	single nucleotide variant	not provided [RCV002207004]	Chr19:48443313 [GRCh38] Chr19:48946570 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3673C>T (p.Arg1225Cys)	single nucleotide variant	Inborn genetic diseases [RCV003161383]\|not provided [RCV002187502]	Chr19:48443599 [GRCh38] Chr19:48946856 [GRCh37] Chr19:19q13.33	benign\|uncertain significance
NM_000836.4(GRIN2D):c.1629C>T (p.Asn543=)	single nucleotide variant	not provided [RCV002206800]	Chr19:48416049 [GRCh38] Chr19:48919306 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1412+10C>A	single nucleotide variant	not provided [RCV002125482]	Chr19:48414594 [GRCh38] Chr19:48917851 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.927G>C (p.Ser309=)	single nucleotide variant	not provided [RCV002073455]	Chr19:48405195 [GRCh38] Chr19:48908452 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3154G>A (p.Asp1052Asn)	single nucleotide variant	Inborn genetic diseases [RCV002553019]\|not provided [RCV002167866]	Chr19:48443080 [GRCh38] Chr19:48946337 [GRCh37] Chr19:19q13.33	benign\|likely benign
NM_000836.4(GRIN2D):c.2441-11C>A	single nucleotide variant	not provided [RCV002196208]	Chr19:48442139 [GRCh38] Chr19:48945396 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3897C>T (p.His1299=)	single nucleotide variant	not provided [RCV002134379]	Chr19:48443823 [GRCh38] Chr19:48947080 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3168G>A (p.Pro1056=)	single nucleotide variant	not provided [RCV002196191]	Chr19:48443094 [GRCh38] Chr19:48946351 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2340C>T (p.Ser780=)	single nucleotide variant	not provided [RCV002152888]	Chr19:48441856 [GRCh38] Chr19:48945113 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.3816C>G (p.Leu1272=)	single nucleotide variant	not provided [RCV002116405]	Chr19:48443742 [GRCh38] Chr19:48946999 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3949G>A (p.Gly1317Ser)	single nucleotide variant	not provided [RCV002124906]	Chr19:48443875 [GRCh38] Chr19:48947132 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.3446C>T (p.Pro1149Leu)	single nucleotide variant	not provided [RCV002224885]	Chr19:48443372 [GRCh38] Chr19:48946629 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.897C>A (p.Pro299=)	single nucleotide variant	not provided [RCV002172891]	Chr19:48405165 [GRCh38] Chr19:48908422 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.555G>A (p.Thr185=)	single nucleotide variant	not provided [RCV002096343]	Chr19:48404823 [GRCh38] Chr19:48908080 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.708C>T (p.Leu236=)	single nucleotide variant	not provided [RCV002076175]	Chr19:48404976 [GRCh38] Chr19:48908233 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3447C>T (p.Pro1149=)	single nucleotide variant	not provided [RCV002125165]	Chr19:48443373 [GRCh38] Chr19:48946630 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.369G>T (p.Ala123=)	single nucleotide variant	not provided [RCV002214994]	Chr19:48398761 [GRCh38] Chr19:48902018 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1854G>T (p.Thr618=)	single nucleotide variant	not provided [RCV002093509]	Chr19:48419352 [GRCh38] Chr19:48922609 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.885A>G (p.Pro295=)	single nucleotide variant	not provided [RCV002197278]	Chr19:48405153 [GRCh38] Chr19:48908410 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.1950C>T (p.Pro650=)	single nucleotide variant	not provided [RCV002172549]	Chr19:48419673 [GRCh38] Chr19:48922930 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3681G>A (p.Gly1227=)	single nucleotide variant	not provided [RCV002150561]\|not specified [RCV004700661]	Chr19:48443607 [GRCh38] Chr19:48946864 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1163T>C (p.Val388Ala)	single nucleotide variant	Inborn genetic diseases [RCV004047113]\|not provided [RCV002193812]	Chr19:48414068 [GRCh38] Chr19:48917325 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3075C>G (p.Pro1025=)	single nucleotide variant	not provided [RCV002117065]	Chr19:48443001 [GRCh38] Chr19:48946258 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.887G>A (p.Gly296Glu)	single nucleotide variant	not provided [RCV002080795]	Chr19:48405155 [GRCh38] Chr19:48908412 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2441-12_2441-10del	deletion	not provided [RCV002152702]	Chr19:48442136..48442138 [GRCh38] Chr19:48945393..48945395 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1735+19dup	duplication	not provided [RCV002197325]	Chr19:48416173..48416174 [GRCh38] Chr19:48919430..48919431 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3879C>T (p.His1293=)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002486919]\|not provided [RCV002078836]	Chr19:48443805 [GRCh38] Chr19:48947062 [GRCh37] Chr19:19q13.33	benign\|likely benign
NM_000836.4(GRIN2D):c.666G>A (p.Thr222=)	single nucleotide variant	not provided [RCV002209099]	Chr19:48404934 [GRCh38] Chr19:48908191 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1862-6del	deletion	not provided [RCV002132406]	Chr19:48419575 [GRCh38] Chr19:48922832 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.3189C>G (p.Arg1063=)	single nucleotide variant	not provided [RCV002078730]	Chr19:48443115 [GRCh38] Chr19:48946372 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3402C>T (p.Phe1134=)	single nucleotide variant	not provided [RCV002215066]	Chr19:48443328 [GRCh38] Chr19:48946585 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1701C>T (p.Arg567=)	single nucleotide variant	not provided [RCV002195311]	Chr19:48416121 [GRCh38] Chr19:48919378 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2484C>T (p.Cys828=)	single nucleotide variant	not provided [RCV002173525]	Chr19:48442193 [GRCh38] Chr19:48945450 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2440+9G>A	single nucleotide variant	not provided [RCV002209254]	Chr19:48441965 [GRCh38] Chr19:48945222 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3081C>T (p.Phe1027=)	single nucleotide variant	not provided [RCV002115168]	Chr19:48443007 [GRCh38] Chr19:48946264 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.447G>C (p.Ala149=)	single nucleotide variant	not provided [RCV002134177]	Chr19:48398839 [GRCh38] Chr19:48902096 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2253-14C>T	single nucleotide variant	not provided [RCV002191312]	Chr19:48441755 [GRCh38] Chr19:48945012 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.165C>G (p.Leu55=)	single nucleotide variant	not provided [RCV002167400]	Chr19:48398557 [GRCh38] Chr19:48901814 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2440+14_2440+27del	deletion	not provided [RCV002192880]	Chr19:48441966..48441979 [GRCh38] Chr19:48945223..48945236 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3615C>G (p.Gly1205=)	single nucleotide variant	not provided [RCV002078274]	Chr19:48443541 [GRCh38] Chr19:48946798 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.519G>A (p.Gln173=)	single nucleotide variant	not provided [RCV002151181]\|not specified [RCV004526189]	Chr19:48404787 [GRCh38] Chr19:48908044 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.244C>T (p.Leu82=)	single nucleotide variant	not provided [RCV002116508]	Chr19:48398636 [GRCh38] Chr19:48901893 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1380C>A (p.Val460=)	single nucleotide variant	not provided [RCV002077688]	Chr19:48414552 [GRCh38] Chr19:48917809 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3432C>T (p.Arg1144=)	single nucleotide variant	not provided [RCV002186469]	Chr19:48443358 [GRCh38] Chr19:48946615 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3036C>G (p.Arg1012=)	single nucleotide variant	not provided [RCV002214123]	Chr19:48442962 [GRCh38] Chr19:48946219 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3252C>G (p.Gly1084=)	single nucleotide variant	not provided [RCV002215534]	Chr19:48443178 [GRCh38] Chr19:48946435 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2806G>A (p.Glu936Lys)	single nucleotide variant	Inborn genetic diseases [RCV002561610]\|not provided [RCV002211674]	Chr19:48442732 [GRCh38] Chr19:48945989 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.3729C>T (p.Pro1243=)	single nucleotide variant	not provided [RCV002169519]	Chr19:48443655 [GRCh38] Chr19:48946912 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.639G>A (p.Val213=)	single nucleotide variant	not provided [RCV002212262]	Chr19:48404907 [GRCh38] Chr19:48908164 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3156C>T (p.Asp1052=)	single nucleotide variant	not provided [RCV002174459]	Chr19:48443082 [GRCh38] Chr19:48946339 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1449C>T (p.Cys483=)	single nucleotide variant	not provided [RCV002132384]	Chr19:48414900 [GRCh38] Chr19:48414900..48414901 [GRCh38] Chr19:48918157 [GRCh37] Chr19:48918157..48918158 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.3813G>T (p.Ser1271=)	single nucleotide variant	not provided [RCV002113060]	Chr19:48443739 [GRCh38] Chr19:48946996 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1134G>A (p.Glu378=)	single nucleotide variant	not provided [RCV002149601]	Chr19:48414039 [GRCh38] Chr19:48917296 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2088C>G (p.Arg696=)	single nucleotide variant	not provided [RCV002079716]	Chr19:48419811 [GRCh38] Chr19:48923068 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.282G>C (p.Ser94=)	single nucleotide variant	not provided [RCV002213217]	Chr19:48398674 [GRCh38] Chr19:48901931 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3789G>A (p.Pro1263=)	single nucleotide variant	not provided [RCV002207250]	Chr19:48443715 [GRCh38] Chr19:48946972 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3453C>T (p.Arg1151=)	single nucleotide variant	not provided [RCV002130015]	Chr19:48443379 [GRCh38] Chr19:48946636 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.585T>C (p.Pro195=)	single nucleotide variant	not provided [RCV002166686]	Chr19:48404853 [GRCh38] Chr19:48908110 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2949A>G (p.Ala983=)	single nucleotide variant	not provided [RCV002210538]	Chr19:48442875 [GRCh38] Chr19:48946132 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2781C>T (p.Pro927=)	single nucleotide variant	not provided [RCV002172005]	Chr19:48442707 [GRCh38] Chr19:48945964 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.375C>T (p.Ala125=)	single nucleotide variant	not provided [RCV002132209]	Chr19:48398767 [GRCh38] Chr19:48902024 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.2784G>A (p.Gly928=)	single nucleotide variant	not provided [RCV002213592]	Chr19:48442710 [GRCh38] Chr19:48945967 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2441-16G>A	single nucleotide variant	not provided [RCV002134826]	Chr19:48442134 [GRCh38] Chr19:48945391 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2118G>T (p.Pro706=)	single nucleotide variant	not provided [RCV002197157]	Chr19:48421811 [GRCh38] Chr19:48925068 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3429G>A (p.Glu1143=)	single nucleotide variant	not provided [RCV002131670]	Chr19:48443355 [GRCh38] Chr19:48946612 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1101C>T (p.Ile367=)	single nucleotide variant	not provided [RCV002197057]	Chr19:48414006 [GRCh38] Chr19:48917263 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3300G>A (p.Pro1100=)	single nucleotide variant	not provided [RCV002113286]	Chr19:48443226 [GRCh38] Chr19:48946483 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2253-4C>T	single nucleotide variant	not provided [RCV002094482]	Chr19:48441765 [GRCh38] Chr19:48945022 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3240G>A (p.Gly1080=)	single nucleotide variant	not provided [RCV002096397]	Chr19:48443166 [GRCh38] Chr19:48946423 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2252+14C>T	single nucleotide variant	not provided [RCV002172828]	Chr19:48421959 [GRCh38] Chr19:48925216 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2122C>T (p.Leu708=)	single nucleotide variant	not provided [RCV002085425]	Chr19:48421815 [GRCh38] Chr19:48925072 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.897C>T (p.Pro299=)	single nucleotide variant	not provided [RCV002212019]	Chr19:48405165 [GRCh38] Chr19:48908422 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.99G>A (p.Pro33=)	single nucleotide variant	not provided [RCV002195233]	Chr19:48398491 [GRCh38] Chr19:48901748 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.738C>T (p.Leu246=)	single nucleotide variant	not provided [RCV002197721]	Chr19:48405006 [GRCh38] Chr19:48908263 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.465+8C>T	single nucleotide variant	not provided [RCV002102058]	Chr19:48398865 [GRCh38] Chr19:48902122 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3576G>A (p.Pro1192=)	single nucleotide variant	not provided [RCV002123580]	Chr19:48443502 [GRCh38] Chr19:48946759 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1861+7C>A	single nucleotide variant	not provided [RCV002081915]	Chr19:48419366 [GRCh38] Chr19:48922623 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2252+20G>A	single nucleotide variant	not provided [RCV002118308]	Chr19:48421965 [GRCh38] Chr19:48925222 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.2673+20G>T	single nucleotide variant	not provided [RCV002138369]	Chr19:48442402 [GRCh38] Chr19:48945659 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.831C>G (p.Pro277=)	single nucleotide variant	not provided [RCV002178495]	Chr19:48405099 [GRCh38] Chr19:48908356 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.192C>G (p.Ala64=)	single nucleotide variant	not provided [RCV002142107]	Chr19:48398584 [GRCh38] Chr19:48901841 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1641C>G (p.Ser547=)	single nucleotide variant	not provided [RCV002200927]	Chr19:48416061 [GRCh38] Chr19:48919318 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.2092-17T>C	single nucleotide variant	not provided [RCV002218203]	Chr19:48421768 [GRCh38] Chr19:48925025 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.417G>A (p.Leu139=)	single nucleotide variant	not provided [RCV002119245]	Chr19:48398809 [GRCh38] Chr19:48902066 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.1047C>T (p.Arg349=)	single nucleotide variant	not provided [RCV002154067]	Chr19:48405315 [GRCh38] Chr19:48908572 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3786C>T (p.Leu1262=)	single nucleotide variant	not provided [RCV002177251]	Chr19:48443712 [GRCh38] Chr19:48946969 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3792G>C (p.Pro1264=)	single nucleotide variant	not provided [RCV002123476]	Chr19:48443718 [GRCh38] Chr19:48946975 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2787C>T (p.Pro929=)	single nucleotide variant	not provided [RCV002163354]	Chr19:48442713 [GRCh38] Chr19:48945970 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1560C>G (p.Val520=)	single nucleotide variant	not provided [RCV002163508]	Chr19:48415011 [GRCh38] Chr19:48918268 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1176C>T (p.Leu392=)	single nucleotide variant	not provided [RCV002175684]	Chr19:48414081 [GRCh38] Chr19:48917338 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2441-5C>T	single nucleotide variant	not provided [RCV002183335]	Chr19:48442145 [GRCh38] Chr19:48945402 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.619C>T (p.Leu207=)	single nucleotide variant	not provided [RCV002118263]	Chr19:48404887 [GRCh38] Chr19:48908144 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1735+9G>T	single nucleotide variant	not provided [RCV002219213]	Chr19:48416164 [GRCh38] Chr19:48919421 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2418G>A (p.Ala806=)	single nucleotide variant	not provided [RCV002143512]	Chr19:48441934 [GRCh38] Chr19:48945191 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.1281C>T (p.Asp427=)	single nucleotide variant	not provided [RCV002176049]	Chr19:48414453 [GRCh38] Chr19:48917710 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2253-10C>T	single nucleotide variant	not provided [RCV002136239]	Chr19:48441759 [GRCh38] Chr19:48945016 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2988C>T (p.Ala996=)	single nucleotide variant	not provided [RCV002204409]	Chr19:48442914 [GRCh38] Chr19:48946171 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3030C>T (p.Ile1010=)	single nucleotide variant	not provided [RCV002204649]	Chr19:48442956 [GRCh38] Chr19:48946213 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.465+12C>T	single nucleotide variant	not provided [RCV002118578]	Chr19:48398869 [GRCh38] Chr19:48902126 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2232G>A (p.Ala744=)	single nucleotide variant	not provided [RCV002198749]	Chr19:48421925 [GRCh38] Chr19:48925182 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.267G>T (p.Leu89=)	single nucleotide variant	not provided [RCV002182291]	Chr19:48398659 [GRCh38] Chr19:48901916 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2440+11A>C	single nucleotide variant	not provided [RCV002143927]	Chr19:48441967 [GRCh38] Chr19:48945224 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3201G>A (p.Glu1067=)	single nucleotide variant	not provided [RCV002164409]	Chr19:48443127 [GRCh38] Chr19:48946384 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1086-11C>G	single nucleotide variant	not provided [RCV002162623]	Chr19:48413980 [GRCh38] Chr19:48917237 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3105C>T (p.Ala1035=)	single nucleotide variant	not provided [RCV002216398]	Chr19:48443031 [GRCh38] Chr19:48946288 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2856G>C (p.Pro952=)	single nucleotide variant	not provided [RCV002202958]	Chr19:48442782 [GRCh38] Chr19:48946039 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3042G>A (p.Lys1014=)	single nucleotide variant	not provided [RCV002135365]	Chr19:48442968 [GRCh38] Chr19:48946225 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2253-3dup	duplication	not provided [RCV002155999]	Chr19:48441760..48441761 [GRCh38] Chr19:48945017..48945018 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.2252+7G>A	single nucleotide variant	not provided [RCV002182892]	Chr19:48421952 [GRCh38] Chr19:48925209 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.366C>G (p.Arg122=)	single nucleotide variant	not provided [RCV002161731]	Chr19:48398758 [GRCh38] Chr19:48902015 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.316C>T (p.Leu106=)	single nucleotide variant	not provided [RCV002200665]	Chr19:48398708 [GRCh38] Chr19:48901965 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1062C>T (p.Thr354=)	single nucleotide variant	not provided [RCV002122099]	Chr19:48405330 [GRCh38] Chr19:48908587 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2412C>T (p.Asp804=)	single nucleotide variant	not provided [RCV002158597]	Chr19:48441928 [GRCh38] Chr19:48945185 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3739G>A (p.Ala1247Thr)	single nucleotide variant	Inborn genetic diseases [RCV003070593]\|not provided [RCV002123779]	Chr19:48443665 [GRCh38] Chr19:48946922 [GRCh37] Chr19:19q13.33	benign\|uncertain significance
NM_000836.4(GRIN2D):c.3126G>A (p.Gly1042=)	single nucleotide variant	not provided [RCV002162219]	Chr19:48443052 [GRCh38] Chr19:48946309 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.199G>A (p.Ala67Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002222292]	Chr19:48398591 [GRCh38] Chr19:48901848 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1338G>A (p.Glu446=)	single nucleotide variant	not provided [RCV002199217]	Chr19:48414510 [GRCh38] Chr19:48917767 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1735+15T>C	single nucleotide variant	not provided [RCV002201333]	Chr19:48416170 [GRCh38] Chr19:48919427 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.2877C>T (p.Asp959=)	single nucleotide variant	not provided [RCV002159488]	Chr19:48442803 [GRCh38] Chr19:48946060 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3342C>T (p.Asp1114=)	single nucleotide variant	not provided [RCV002203286]	Chr19:48443268 [GRCh38] Chr19:48946525 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.897C>G (p.Pro299=)	single nucleotide variant	not provided [RCV002157938]	Chr19:48405165 [GRCh38] Chr19:48908422 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2253-9T>C	single nucleotide variant	not provided [RCV002199812]	Chr19:48441760 [GRCh38] Chr19:48945017 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1413-4G>A	single nucleotide variant	Inborn genetic diseases [RCV003007101]\|not provided [RCV002098063]	Chr19:48414860 [GRCh38] Chr19:48918117 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1413-7C>T	single nucleotide variant	not provided [RCV002141541]	Chr19:48414857 [GRCh38] Chr19:48918114 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1413-15G>A	single nucleotide variant	not provided [RCV002136382]	Chr19:48414849 [GRCh38] Chr19:48918106 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.414G>A (p.Ser138=)	single nucleotide variant	not provided [RCV002155246]	Chr19:48398806 [GRCh38] Chr19:48902063 [GRCh37] Chr19:19q13.33	benign\|likely benign
NM_000836.4(GRIN2D):c.2674-20del	deletion	not provided [RCV002204148]	Chr19:48442580 [GRCh38] Chr19:48945837 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1861+8C>T	single nucleotide variant	not provided [RCV002198795]	Chr19:48419367 [GRCh38] Chr19:48922624 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.504C>G (p.Thr168=)	single nucleotide variant	not provided [RCV002123948]	Chr19:48404772 [GRCh38] Chr19:48908029 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.223G>A (p.Ala75Thr)	single nucleotide variant	not specified [RCV002223081]	Chr19:48398615 [GRCh38] Chr19:48901872 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2874C>T (p.Ala958=)	single nucleotide variant	not provided [RCV002157427]	Chr19:48442800 [GRCh38] Chr19:48946057 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3697C>G (p.Pro1233Ala)	single nucleotide variant	Inborn genetic diseases [RCV003081047]\|not provided [RCV002144337]\|not specified [RCV005406383]	Chr19:48443623 [GRCh38] Chr19:48946880 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.2674-11del	deletion	not provided [RCV002138522]	Chr19:48442586 [GRCh38] Chr19:48945843 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.660G>A (p.Ala220=)	single nucleotide variant	not provided [RCV002182262]	Chr19:48404928 [GRCh38] Chr19:48908185 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1857C>A (p.Gly619=)	single nucleotide variant	not provided [RCV002184546]	Chr19:48419355 [GRCh38] Chr19:48922612 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2176del (p.Tyr726fs)	deletion	not provided [RCV003115222]	Chr19:48421869 [GRCh38] Chr19:48925126 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1665C>A (p.Pro555=)	single nucleotide variant	not provided [RCV003116955]	Chr19:48416085 [GRCh38] Chr19:48919342 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3370_3384del (p.Ala1124_Gly1128del)	deletion	not provided [RCV003112970]	Chr19:48443287..48443301 [GRCh38] Chr19:48946544..48946558 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.401C>A (p.Ser134Ter)	single nucleotide variant	GRIN2D-related disorder [RCV005429100]\|not provided [RCV003123178]	Chr19:48398793 [GRCh38] Chr19:48902050 [GRCh37] Chr19:19q13.33	uncertain significance\|not provided
NM_000836.4(GRIN2D):c.2723C>G (p.Pro908Arg)	single nucleotide variant	not provided [RCV004776700]	Chr19:48442649 [GRCh38] Chr19:48945906 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2873C>T (p.Ala958Val)	single nucleotide variant	not provided [RCV003129130]	Chr19:48442799 [GRCh38] Chr19:48946056 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2957G>T (p.Gly986Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV004785849]	Chr19:48442883 [GRCh38] Chr19:48946140 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1997C>T (p.Ala666Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002250038]	Chr19:48419720 [GRCh38] Chr19:48922977 [GRCh37] Chr19:19q13.33	pathogenic
NM_000836.4(GRIN2D):c.1982T>C (p.Val661Ala)	single nucleotide variant	not provided [RCV003237091]	Chr19:48419705 [GRCh38] Chr19:48922962 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.358G>A (p.Asp120Asn)	single nucleotide variant	not provided [RCV002263183]	Chr19:48398750 [GRCh38] Chr19:48902007 [GRCh37] Chr19:19q13.33	likely benign\|conflicting interpretations of pathogenicity
NM_000836.4(GRIN2D):c.655G>C (p.Gly219Arg)	single nucleotide variant	Seizure [RCV002275908]	Chr19:48404923 [GRCh38] Chr19:48908180 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2620C>T (p.Arg874Trp)	single nucleotide variant	not provided [RCV002267490]	Chr19:48442329 [GRCh38] Chr19:48945586 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1751C>T (p.Ala584Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002287236]	Chr19:48419249 [GRCh38] Chr19:48922506 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3022T>C (p.Phe1008Leu)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002275680]	Chr19:48442948 [GRCh38] Chr19:48946205 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3756G>C (p.Arg1252Ser)	single nucleotide variant	not specified [RCV002281828]	Chr19:48443682 [GRCh38] Chr19:48946939 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3459G>A (p.Trp1153Ter)	single nucleotide variant	not provided [RCV002286102]	Chr19:48443385 [GRCh38] Chr19:48946642 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2204G>C (p.Arg735Pro)	single nucleotide variant	not provided [RCV002288103]	Chr19:48421897 [GRCh38] Chr19:48925154 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2698G>C (p.Glu900Gln)	single nucleotide variant	not provided [RCV002269731]	Chr19:48442624 [GRCh38] Chr19:48945881 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1066C>T (p.Arg356Cys)	single nucleotide variant	not provided [RCV002290874]	Chr19:48405334 [GRCh38] Chr19:48908591 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1556G>A (p.Gly519Asp)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002289174]	Chr19:48415007 [GRCh38] Chr19:48918264 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.676G>A (p.Gly226Arg)	single nucleotide variant	See cases [RCV002287822]	Chr19:48404944 [GRCh38] Chr19:48908201 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.197C>G (p.Ala66Gly)	single nucleotide variant	not provided [RCV002296898]	Chr19:48398589 [GRCh38] Chr19:48901846 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3772G>C (p.Gly1258Arg)	single nucleotide variant	not provided [RCV002291851]	Chr19:48443698 [GRCh38] Chr19:48946955 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2393G>A (p.Arg798His)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002289078]	Chr19:48441909 [GRCh38] Chr19:48945166 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2117C>T (p.Pro706Leu)	single nucleotide variant	Inborn genetic diseases [RCV003262950]	Chr19:48421810 [GRCh38] Chr19:48925067 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3686C>T (p.Pro1229Leu)	single nucleotide variant	not provided [RCV002991385]	Chr19:48443612 [GRCh38] Chr19:48946869 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2330C>T (p.Thr777Ile)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002466331]	Chr19:48441846 [GRCh38] Chr19:48945103 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_000836.4(GRIN2D):c.341G>C (p.Gly114Ala)	single nucleotide variant	not provided [RCV002302385]	Chr19:48398733 [GRCh38] Chr19:48901990 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.749G>A (p.Arg250Gln)	single nucleotide variant	not provided [RCV002303677]	Chr19:48405017 [GRCh38] Chr19:48908274 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1870G>A (p.Gly624Ser)	single nucleotide variant	not provided [RCV002303819]	Chr19:48419593 [GRCh38] Chr19:48922850 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2867G>T (p.Gly956Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003131080]	Chr19:48442793 [GRCh38] Chr19:48946050 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.652C>G (p.Arg218Gly)	single nucleotide variant	not provided [RCV002299339]	Chr19:48404920 [GRCh38] Chr19:48908177 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.301C>A (p.Leu101Met)	single nucleotide variant	not provided [RCV002469530]	Chr19:48398693 [GRCh38] Chr19:48901950 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1252C>A (p.Arg418Ser)	single nucleotide variant	not provided [RCV003230049]	Chr19:48414424 [GRCh38] Chr19:48917681 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3190T>C (p.Ser1064Pro)	single nucleotide variant	not provided [RCV002304486]	Chr19:48443116 [GRCh38] Chr19:48946373 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3910G>A (p.Gly1304Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003130705]\|not provided [RCV002299739]	Chr19:48443836 [GRCh38] Chr19:48947093 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3751C>A (p.His1251Asn)	single nucleotide variant	not provided [RCV002296463]	Chr19:48443677 [GRCh38] Chr19:48946934 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3689G>C (p.Arg1230Pro)	single nucleotide variant	not provided [RCV002305314]	Chr19:48443615 [GRCh38] Chr19:48946872 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2549A>C (p.Tyr850Ser)	single nucleotide variant	not provided [RCV002294818]	Chr19:48442258 [GRCh38] Chr19:48945515 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3534G>C (p.Trp1178Cys)	single nucleotide variant	not provided [RCV002295763]	Chr19:48443460 [GRCh38] Chr19:48946717 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2761C>T (p.Pro921Ser)	single nucleotide variant	Inborn genetic diseases [RCV005350940]\|not provided [RCV003574903]\|not specified [RCV002308557]	Chr19:48442687 [GRCh38] Chr19:48945944 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.362C>T (p.Ser121Leu)	single nucleotide variant	not provided [RCV002299419]	Chr19:48398754 [GRCh38] Chr19:48902011 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2602C>G (p.Leu868Val)	single nucleotide variant	not provided [RCV002299491]	Chr19:48442311 [GRCh38] Chr19:48945568 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3911G>T (p.Gly1304Val)	single nucleotide variant	not provided [RCV002300395]	Chr19:48443837 [GRCh38] Chr19:48947094 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3325G>C (p.Glu1109Gln)	single nucleotide variant	not provided [RCV002299515]	Chr19:48443251 [GRCh38] Chr19:48946508 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3217G>T (p.Gly1073Trp)	single nucleotide variant	not provided [RCV002296161]	Chr19:48443143 [GRCh38] Chr19:48946400 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2465T>A (p.Leu822Gln)	single nucleotide variant	not provided [RCV002296206]	Chr19:48442174 [GRCh38] Chr19:48945431 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3097C>T (p.Pro1033Ser)	single nucleotide variant	not provided [RCV002301856]	Chr19:48443023 [GRCh38] Chr19:48946280 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3292G>C (p.Ala1098Pro)	single nucleotide variant	not provided [RCV002303276]	Chr19:48443218 [GRCh38] Chr19:48946475 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.474C>T (p.Gly158=)	single nucleotide variant	not provided [RCV003016076]	Chr19:48404742 [GRCh38] Chr19:48907999 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2889C>A (p.Arg963=)	single nucleotide variant	not provided [RCV003015809]	Chr19:48442815 [GRCh38] Chr19:48946072 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2764G>A (p.Ala922Thr)	single nucleotide variant	not provided [RCV002991417]	Chr19:48442690 [GRCh38] Chr19:48945947 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1126T>C (p.Phe376Leu)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002510723]	Chr19:48414031 [GRCh38] Chr19:48917288 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2678T>C (p.Met893Thr)	single nucleotide variant	not provided [RCV002903493]	Chr19:48442604 [GRCh38] Chr19:48945861 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3340G>A (p.Asp1114Asn)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002510632]\|GRIN2D-related disorder [RCV003971304]\|not provided [RCV002574740]	Chr19:48443266 [GRCh38] Chr19:48946523 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.3124G>A (p.Gly1042Arg)	single nucleotide variant	not provided [RCV002993883]	Chr19:48443050 [GRCh38] Chr19:48946307 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1815G>T (p.Glu605Asp)	single nucleotide variant	not provided [RCV002511379]	Chr19:48419313 [GRCh38] Chr19:48922570 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2688C>T (p.Cys896=)	single nucleotide variant	not provided [RCV003014326]	Chr19:48442614 [GRCh38] Chr19:48945871 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3698_3721del (p.Pro1233_His1240del)	deletion	not provided [RCV002862205]	Chr19:48443617..48443640 [GRCh38] Chr19:48946874..48946897 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1861+10C>T	single nucleotide variant	not provided [RCV003015796]	Chr19:48419369 [GRCh38] Chr19:48922626 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3967C>T (p.Arg1323Cys)	single nucleotide variant	not provided [RCV002771457]	Chr19:48443893 [GRCh38] Chr19:48947150 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3654C>G (p.Pro1218=)	single nucleotide variant	not provided [RCV002880942]	Chr19:48443580 [GRCh38] Chr19:48946837 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2652C>T (p.Asp884=)	single nucleotide variant	not provided [RCV002617070]	Chr19:48442361 [GRCh38] Chr19:48945618 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2283A>G (p.Ala761=)	single nucleotide variant	not provided [RCV002947999]	Chr19:48441799 [GRCh38] Chr19:48945056 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.537G>A (p.Leu179=)	single nucleotide variant	not provided [RCV002839145]	Chr19:48404805 [GRCh38] Chr19:48908062 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3577C>G (p.Arg1193Gly)	single nucleotide variant	not provided [RCV002462652]	Chr19:48443503 [GRCh38] Chr19:48946760 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3509C>T (p.Pro1170Leu)	single nucleotide variant	not provided [RCV002948179]	Chr19:48443435 [GRCh38] Chr19:48946692 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2910G>T (p.Pro970=)	single nucleotide variant	not provided [RCV002511947]	Chr19:48442836 [GRCh38] Chr19:48946093 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3359G>T (p.Ser1120Ile)	single nucleotide variant	not provided [RCV002731427]	Chr19:48443285 [GRCh38] Chr19:48946542 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.191C>T (p.Ala64Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV002510673]	Chr19:48398583 [GRCh38] Chr19:48901840 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3043G>T (p.Glu1015Ter)	single nucleotide variant	not provided [RCV002815773]	Chr19:48442969 [GRCh38] Chr19:48946226 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2565C>T (p.Ala855=)	single nucleotide variant	not provided [RCV003015195]	Chr19:48442274 [GRCh38] Chr19:48945531 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2710C>T (p.Pro904Ser)	single nucleotide variant	not provided [RCV003015942]	Chr19:48442636 [GRCh38] Chr19:48945893 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3481_3527del (p.Trp1161fs)	deletion	not provided [RCV002727146]	Chr19:48443404..48443450 [GRCh38] Chr19:48946661..48946707 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3592_3595del (p.Ser1198fs)	deletion	not provided [RCV002461788]	Chr19:48443516..48443519 [GRCh38] Chr19:48946773..48946776 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1064A>T (p.His355Leu)	single nucleotide variant	not provided [RCV003017100]	Chr19:48405332 [GRCh38] Chr19:48908589 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1407C>T (p.Thr469=)	single nucleotide variant	not provided [RCV002618583]	Chr19:48414579 [GRCh38] Chr19:48917836 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1861+9_1861+15dup	duplication	not provided [RCV002996856]	Chr19:48419364..48419365 [GRCh38] Chr19:48922621..48922622 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2448C>A (p.Ile816=)	single nucleotide variant	not provided [RCV002815772]	Chr19:48442157 [GRCh38] Chr19:48945414 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3282C>T (p.Pro1094=)	single nucleotide variant	not provided [RCV003075053]	Chr19:48443208 [GRCh38] Chr19:48946465 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2410G>A (p.Asp804Asn)	single nucleotide variant	not provided [RCV002842095]	Chr19:48441926 [GRCh38] Chr19:48945183 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2265C>T (p.Ala755=)	single nucleotide variant	not provided [RCV002774834]	Chr19:48441781 [GRCh38] Chr19:48945038 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.209G>C (p.Gly70Ala)	single nucleotide variant	Inborn genetic diseases [RCV002685027]\|not provided [RCV003660995]\|not specified [RCV005059419]	Chr19:48398601 [GRCh38] Chr19:48901858 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.603G>C (p.Leu201=)	single nucleotide variant	not provided [RCV002614953]	Chr19:48404871 [GRCh38] Chr19:48908128 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3802A>C (p.Thr1268Pro)	single nucleotide variant	not provided [RCV002686110]	Chr19:48443728 [GRCh38] Chr19:48946985 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.363G>C (p.Ser121=)	single nucleotide variant	not provided [RCV002863397]	Chr19:48398755 [GRCh38] Chr19:48902012 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.619C>G (p.Leu207Val)	single nucleotide variant	not provided [RCV002816035]	Chr19:48404887 [GRCh38] Chr19:48908144 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3918_3921del (p.Leu1307fs)	deletion	not provided [RCV003032628]	Chr19:48443844..48443847 [GRCh38] Chr19:48947101..48947104 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.543G>A (p.Glu181=)	single nucleotide variant	not provided [RCV002996047]	Chr19:48404811 [GRCh38] Chr19:48908068 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3318C>G (p.Leu1106=)	single nucleotide variant	not provided [RCV003032664]	Chr19:48443244 [GRCh38] Chr19:48946501 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1038C>T (p.His346=)	single nucleotide variant	not provided [RCV002755491]	Chr19:48405306 [GRCh38] Chr19:48908563 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2722C>A (p.Pro908Thr)	single nucleotide variant	Inborn genetic diseases [RCV002793573]\|not provided [RCV003777778]	Chr19:48442648 [GRCh38] Chr19:48945905 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3671C>T (p.Ala1224Val)	single nucleotide variant	not provided [RCV002819157]	Chr19:48443597 [GRCh38] Chr19:48946854 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1529del (p.Asn510fs)	deletion	not provided [RCV002857990]	Chr19:48414979 [GRCh38] Chr19:48918236 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1274C>T (p.Pro425Leu)	single nucleotide variant	not provided [RCV002819718]	Chr19:48414446 [GRCh38] Chr19:48917703 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2959G>A (p.Ala987Thr)	single nucleotide variant	not provided [RCV002967815]	Chr19:48442885 [GRCh38] Chr19:48946142 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2262C>T (p.Asp754=)	single nucleotide variant	not provided [RCV002618034]	Chr19:48441778 [GRCh38] Chr19:48945035 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2851C>T (p.Pro951Ser)	single nucleotide variant	Inborn genetic diseases [RCV002793717]	Chr19:48442777 [GRCh38] Chr19:48946034 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1413-17del	deletion	not provided [RCV002949282]	Chr19:48414846 [GRCh38] Chr19:48918103 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.749G>C (p.Arg250Pro)	single nucleotide variant	not provided [RCV002780527]	Chr19:48405017 [GRCh38] Chr19:48908274 [GRCh37] Chr19:19q13.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_000836.4(GRIN2D):c.102G>A (p.Gly34=)	single nucleotide variant	not provided [RCV002593427]	Chr19:48398494 [GRCh38] Chr19:48901751 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.827G>A (p.Gly276Glu)	single nucleotide variant	not provided [RCV002592810]	Chr19:48405095 [GRCh38] Chr19:48908352 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3775G>A (p.Gly1259Ser)	single nucleotide variant	Inborn genetic diseases [RCV002798631]\|not provided [RCV003777780]	Chr19:48443701 [GRCh38] Chr19:48946958 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2944G>C (p.Ala982Pro)	single nucleotide variant	not provided [RCV002622332]	Chr19:48442870 [GRCh38] Chr19:48946127 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2697T>G (p.Ala899=)	single nucleotide variant	not provided [RCV002639300]	Chr19:48442623 [GRCh38] Chr19:48945880 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.393C>T (p.Asp131=)	single nucleotide variant	not provided [RCV002590989]	Chr19:48398785 [GRCh38] Chr19:48902042 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3233G>A (p.Gly1078Asp)	single nucleotide variant	not provided [RCV002760214]	Chr19:48443159 [GRCh38] Chr19:48946416 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3584T>C (p.Leu1195Pro)	single nucleotide variant	not provided [RCV002949318]	Chr19:48443510 [GRCh38] Chr19:48946767 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2253-8C>T	single nucleotide variant	not provided [RCV002780715]	Chr19:48441761 [GRCh38] Chr19:48945018 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.479C>T (p.Thr160Ile)	single nucleotide variant	not provided [RCV003036705]	Chr19:48404747 [GRCh38] Chr19:48908004 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2100G>T (p.Arg700Ser)	single nucleotide variant	not provided [RCV002590705]	Chr19:48421793 [GRCh38] Chr19:48925050 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1200+8G>A	single nucleotide variant	not provided [RCV003017959]	Chr19:48414113 [GRCh38] Chr19:48917370 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2441-4C>G	single nucleotide variant	not provided [RCV002619119]	Chr19:48442146 [GRCh38] Chr19:48945403 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.3883C>T (p.Arg1295Cys)	single nucleotide variant	Inborn genetic diseases [RCV002692100]	Chr19:48443809 [GRCh38] Chr19:48947066 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.210C>A (p.Gly70=)	single nucleotide variant	not provided [RCV002705739]	Chr19:48398602 [GRCh38] Chr19:48901859 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3037G>A (p.Asp1013Asn)	single nucleotide variant	not provided [RCV002885603]	Chr19:48442963 [GRCh38] Chr19:48946220 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3706C>G (p.Pro1236Ala)	single nucleotide variant	Inborn genetic diseases [RCV002958179]\|not provided [RCV002923720]	Chr19:48443632 [GRCh38] Chr19:48946889 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3639C>T (p.Pro1213=)	single nucleotide variant	not provided [RCV003037656]	Chr19:48443565 [GRCh38] Chr19:48946822 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3405C>G (p.Ala1135=)	single nucleotide variant	not provided [RCV002619577]	Chr19:48443331 [GRCh38] Chr19:48946588 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2673+1G>T	single nucleotide variant	not provided [RCV002998931]	Chr19:48442383 [GRCh38] Chr19:48945640 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3270G>T (p.Pro1090=)	single nucleotide variant	not provided [RCV002691250]	Chr19:48443196 [GRCh38] Chr19:48946453 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3768C>T (p.Ala1256=)	single nucleotide variant	not provided [RCV002866902]	Chr19:48443694 [GRCh38] Chr19:48946951 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3425C>G (p.Ala1142Gly)	single nucleotide variant	not provided [RCV002999460]	Chr19:48443351 [GRCh38] Chr19:48946608 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.313G>T (p.Asp105Tyr)	single nucleotide variant	not provided [RCV003020327]	Chr19:48398705 [GRCh38] Chr19:48901962 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2206T>C (p.Tyr736His)	single nucleotide variant	not provided [RCV002909676]	Chr19:48421899 [GRCh38] Chr19:48925156 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.675T>G (p.Pro225=)	single nucleotide variant	not provided [RCV002866759]	Chr19:48404943 [GRCh38] Chr19:48908200 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1641C>A (p.Ser547=)	single nucleotide variant	not provided [RCV002867364]	Chr19:48416061 [GRCh38] Chr19:48919318 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3741G>A (p.Ala1247=)	single nucleotide variant	not provided [RCV003054516]	Chr19:48443667 [GRCh38] Chr19:48946924 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1007G>A (p.Arg336His)	single nucleotide variant	Inborn genetic diseases [RCV002979988]	Chr19:48405275 [GRCh38] Chr19:48908532 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1582-8C>T	single nucleotide variant	not provided [RCV002847066]	Chr19:48415994 [GRCh38] Chr19:48919251 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1412+11G>A	single nucleotide variant	not provided [RCV002824404]	Chr19:48414595 [GRCh38] Chr19:48917852 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2861dup (p.Ala955fs)	duplication	not provided [RCV002796958]	Chr19:48442781..48442782 [GRCh38] Chr19:48946038..48946039 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3354G>A (p.Ser1118=)	single nucleotide variant	not provided [RCV003020290]	Chr19:48443280 [GRCh38] Chr19:48946537 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2236A>G (p.Thr746Ala)	single nucleotide variant	not provided [RCV003035374]\|not specified [RCV003111615]	Chr19:48421929 [GRCh38] Chr19:48925186 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2785C>T (p.Pro929Ser)	single nucleotide variant	not provided [RCV002820973]	Chr19:48442711 [GRCh38] Chr19:48945968 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2791C>T (p.Pro931Ser)	single nucleotide variant	not provided [RCV002796512]	Chr19:48442717 [GRCh38] Chr19:48945974 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1200+19C>T	single nucleotide variant	not provided [RCV003038712]	Chr19:48414124 [GRCh38] Chr19:48917381 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1552G>A (p.Asp518Asn)	single nucleotide variant	not provided [RCV003038870]	Chr19:48415003 [GRCh38] Chr19:48918260 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1499G>A (p.Gly500Asp)	single nucleotide variant	not provided [RCV003002351]	Chr19:48414950 [GRCh38] Chr19:48918207 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.858G>A (p.Gly286=)	single nucleotide variant	not provided [RCV003019955]	Chr19:48405126 [GRCh38] Chr19:48908383 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.258C>G (p.Pro86=)	single nucleotide variant	not provided [RCV002705605]	Chr19:48398650 [GRCh38] Chr19:48901907 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2926G>T (p.Gly976Cys)	single nucleotide variant	Inborn genetic diseases [RCV002739725]	Chr19:48442852 [GRCh38] Chr19:48946109 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1521G>A (p.Leu507=)	single nucleotide variant	not provided [RCV003080815]	Chr19:48414972 [GRCh38] Chr19:48918229 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3508C>A (p.Pro1170Thr)	single nucleotide variant	not provided [RCV003020259]	Chr19:48443434 [GRCh38] Chr19:48946691 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3479G>T (p.Gly1160Val)	single nucleotide variant	not provided [RCV002824613]	Chr19:48443405 [GRCh38] Chr19:48946662 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.354A>G (p.Glu118=)	single nucleotide variant	GRIN2D-related disorder [RCV003916509]\|not provided [RCV002658581]	Chr19:48398746 [GRCh38] Chr19:48902003 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1862-13T>C	single nucleotide variant	not provided [RCV002591301]	Chr19:48419572 [GRCh38] Chr19:48922829 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3137G>A (p.Cys1046Tyr)	single nucleotide variant	not provided [RCV003008159]	Chr19:48443063 [GRCh38] Chr19:48946320 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1383C>T (p.Pro461=)	single nucleotide variant	not provided [RCV002828419]	Chr19:48414555 [GRCh38] Chr19:48917812 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.741C>T (p.Phe247=)	single nucleotide variant	not provided [RCV002596327]	Chr19:48405009 [GRCh38] Chr19:48908266 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3053A>G (p.Glu1018Gly)	single nucleotide variant	not provided [RCV002828425]	Chr19:48442979 [GRCh38] Chr19:48946236 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3291C>T (p.Arg1097=)	single nucleotide variant	not provided [RCV003043134]	Chr19:48443217 [GRCh38] Chr19:48946474 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3157G>A (p.Glu1053Lys)	single nucleotide variant	Inborn genetic diseases [RCV002959018]\|not provided [RCV002959017]	Chr19:48443083 [GRCh38] Chr19:48946340 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2461C>T (p.Arg821Trp)	single nucleotide variant	not provided [RCV003006375]	Chr19:48442170 [GRCh38] Chr19:48945427 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.909G>C (p.Gly303=)	single nucleotide variant	not provided [RCV002745479]	Chr19:48405177 [GRCh38] Chr19:48908434 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2674-19C>T	single nucleotide variant	not provided [RCV003007934]	Chr19:48442581 [GRCh38] Chr19:48945838 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.330G>A (p.Leu110=)	single nucleotide variant	not provided [RCV003059666]	Chr19:48398722 [GRCh38] Chr19:48901979 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.465+20G>A	single nucleotide variant	not provided [RCV003040320]	Chr19:48398877 [GRCh38] Chr19:48902134 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2607G>A (p.Val869=)	single nucleotide variant	not provided [RCV003041971]	Chr19:48442316 [GRCh38] Chr19:48945573 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2440+12C>T	single nucleotide variant	not provided [RCV002891217]	Chr19:48441968 [GRCh38] Chr19:48945225 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1581+6G>A	single nucleotide variant	not provided [RCV003040045]	Chr19:48415038 [GRCh38] Chr19:48918295 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.440G>A (p.Gly147Asp)	single nucleotide variant	not provided [RCV003057041]	Chr19:48398832 [GRCh38] Chr19:48902089 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.4002C>T (p.Ser1334=)	single nucleotide variant	not provided [RCV003039931]	Chr19:48443928 [GRCh38] Chr19:48947185 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.429C>G (p.Ala143=)	single nucleotide variant	not provided [RCV002643578]	Chr19:48398821 [GRCh38] Chr19:48902078 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.578G>A (p.Arg193His)	single nucleotide variant	GRIN2D-related disorder [RCV003943449]\|not provided [RCV002625678]	Chr19:48404846 [GRCh38] Chr19:48908103 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.3583C>G (p.Leu1195Val)	single nucleotide variant	Inborn genetic diseases [RCV002915309]\|not provided [RCV003669342]	Chr19:48443509 [GRCh38] Chr19:48946766 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3351C>G (p.Asp1117Glu)	single nucleotide variant	not provided [RCV002800913]	Chr19:48443277 [GRCh38] Chr19:48946534 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3704G>A (p.Arg1235His)	single nucleotide variant	not provided [RCV002666725]	Chr19:48443630 [GRCh38] Chr19:48946887 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.159G>C (p.Val53=)	single nucleotide variant	not provided [RCV002894895]	Chr19:48398551 [GRCh38] Chr19:48901808 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3798G>C (p.Ala1266=)	single nucleotide variant	not provided [RCV002594565]	Chr19:48443724 [GRCh38] Chr19:48946981 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.563T>C (p.Val188Ala)	single nucleotide variant	Inborn genetic diseases [RCV004064557]\|not provided [RCV002596581]	Chr19:48404831 [GRCh38] Chr19:48908088 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.1078C>T (p.Leu360=)	single nucleotide variant	not provided [RCV003057037]	Chr19:48405346 [GRCh38] Chr19:48908603 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1869C>T (p.Gly623=)	single nucleotide variant	not provided [RCV002575974]	Chr19:48419592 [GRCh38] Chr19:48922849 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2186T>C (p.Met729Thr)	single nucleotide variant	not provided [RCV002919198]	Chr19:48421879 [GRCh38] Chr19:48925136 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.259G>A (p.Val87Met)	single nucleotide variant	not provided [RCV002928688]	Chr19:48398651 [GRCh38] Chr19:48901908 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.213G>A (p.Pro71=)	single nucleotide variant	not provided [RCV002573917]	Chr19:48398605 [GRCh38] Chr19:48901862 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1431C>T (p.Pro477=)	single nucleotide variant	not provided [RCV002710590]	Chr19:48414882 [GRCh38] Chr19:48918139 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.603G>A (p.Leu201=)	single nucleotide variant	not provided [RCV002594697]	Chr19:48404871 [GRCh38] Chr19:48908128 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2790_2805del (p.Pro931fs)	deletion	not provided [RCV002872703]	Chr19:48442711..48442726 [GRCh38] Chr19:48945968..48945983 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.342C>A (p.Gly114=)	single nucleotide variant	not provided [RCV003042168]	Chr19:48398734 [GRCh38] Chr19:48901991 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1845C>T (p.Ser615=)	single nucleotide variant	not provided [RCV002918609]	Chr19:48419343 [GRCh38] Chr19:48922600 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1861C>G (p.Arg621Gly)	single nucleotide variant	not provided [RCV002594564]	Chr19:48419359 [GRCh38] Chr19:48922616 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3594G>A (p.Ser1198=)	single nucleotide variant	not provided [RCV002711997]	Chr19:48443520 [GRCh38] Chr19:48946777 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2437G>A (p.Asp813Asn)	single nucleotide variant	not provided [RCV002919020]	Chr19:48441953 [GRCh38] Chr19:48945210 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2413C>T (p.Leu805=)	single nucleotide variant	GRIN2D-related disorder [RCV003961107]\|not provided [RCV002663880]	Chr19:48441929 [GRCh38] Chr19:48945186 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3014C>T (p.Pro1005Leu)	single nucleotide variant	not provided [RCV003057049]	Chr19:48442940 [GRCh38] Chr19:48946197 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.183G>C (p.Ala61=)	single nucleotide variant	not provided [RCV002625999]	Chr19:48398575 [GRCh38] Chr19:48901832 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2353G>A (p.Ala785Thr)	single nucleotide variant	not provided [RCV002575083]	Chr19:48441869 [GRCh38] Chr19:48945126 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2393G>C (p.Arg798Pro)	single nucleotide variant	Inborn genetic diseases [RCV002893072]\|See cases [RCV003128462]	Chr19:48441909 [GRCh38] Chr19:48945166 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3800C>A (p.Pro1267His)	single nucleotide variant	not provided [RCV002918472]	Chr19:48443726 [GRCh38] Chr19:48946983 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2674-5C>T	single nucleotide variant	not provided [RCV003007772]	Chr19:48442595 [GRCh38] Chr19:48945852 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3169G>C (p.Ala1057Pro)	single nucleotide variant	not provided [RCV002765698]	Chr19:48443095 [GRCh38] Chr19:48946352 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3462G>A (p.Ser1154=)	single nucleotide variant	not provided [RCV003025573]	Chr19:48443388 [GRCh38] Chr19:48946645 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3403G>A (p.Ala1135Thr)	single nucleotide variant	not provided [RCV003041905]	Chr19:48443329 [GRCh38] Chr19:48946586 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2119C>T (p.Pro707Ser)	single nucleotide variant	not provided [RCV002642291]	Chr19:48421812 [GRCh38] Chr19:48925069 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3905A>C (p.His1302Pro)	single nucleotide variant	not provided [RCV003023142]	Chr19:48443831 [GRCh38] Chr19:48947088 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2866G>T (p.Gly956Cys)	single nucleotide variant	Inborn genetic diseases [RCV005343592]\|not provided [RCV003063842]	Chr19:48442792 [GRCh38] Chr19:48946049 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3167C>T (p.Pro1056Leu)	single nucleotide variant	not provided [RCV002720136]	Chr19:48443093 [GRCh38] Chr19:48946350 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2133G>C (p.Gly711=)	single nucleotide variant	not provided [RCV002672090]	Chr19:48421826 [GRCh38] Chr19:48925083 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1069G>A (p.Gly357Ser)	single nucleotide variant	not provided [RCV002676552]	Chr19:48405337 [GRCh38] Chr19:48908594 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3092C>T (p.Pro1031Leu)	single nucleotide variant	not provided [RCV003030772]	Chr19:48443018 [GRCh38] Chr19:48946275 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1085+19G>C	single nucleotide variant	not provided [RCV002581203]	Chr19:48405372 [GRCh38] Chr19:48908629 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.22C>A (p.Arg8Ser)	single nucleotide variant	not provided [RCV003031036]	Chr19:48398414 [GRCh38] Chr19:48901671 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3119_3120delinsAT (p.Ala1040Asp)	indel	not provided [RCV002720731]	Chr19:48443045..48443046 [GRCh38] Chr19:48946302..48946303 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1412+7G>A	single nucleotide variant	not provided [RCV002601451]\|not specified [RCV004700786]	Chr19:48414591 [GRCh38] Chr19:48917848 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.2755G>A (p.Ala919Thr)	single nucleotide variant	not provided [RCV003091263]	Chr19:48442681 [GRCh38] Chr19:48945938 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1201-16_1201-13del	deletion	not provided [RCV002811387]	Chr19:48414355..48414358 [GRCh38] Chr19:48917612..48917615 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1383C>G (p.Pro461=)	single nucleotide variant	not provided [RCV002791726]	Chr19:48414555 [GRCh38] Chr19:48917812 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3979G>A (p.Ala1327Thr)	single nucleotide variant	not provided [RCV002963038]	Chr19:48443905 [GRCh38] Chr19:48947162 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3283C>G (p.Pro1095Ala)	single nucleotide variant	not provided [RCV002649629]	Chr19:48443209 [GRCh38] Chr19:48946466 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3724A>C (p.Thr1242Pro)	single nucleotide variant	Inborn genetic diseases [RCV002672932]	Chr19:48443650 [GRCh38] Chr19:48946907 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1584dup (p.Phe529fs)	duplication	not provided [RCV003009920]	Chr19:48416003..48416004 [GRCh38] Chr19:48919260..48919261 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1554T>C (p.Asp518=)	single nucleotide variant	not provided [RCV003026644]	Chr19:48415005 [GRCh38] Chr19:48918262 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2746C>T (p.Pro916Ser)	single nucleotide variant	not provided [RCV002579360]	Chr19:48442672 [GRCh38] Chr19:48945929 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3279G>T (p.Pro1093=)	single nucleotide variant	not provided [RCV003009693]	Chr19:48443205 [GRCh38] Chr19:48946462 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3132A>C (p.Pro1044=)	single nucleotide variant	not provided [RCV002937909]	Chr19:48443058 [GRCh38] Chr19:48946315 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1304C>T (p.Ala435Val)	single nucleotide variant	not provided [RCV003029361]	Chr19:48414476 [GRCh38] Chr19:48917733 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3575C>T (p.Pro1192Leu)	single nucleotide variant	not provided [RCV003027492]	Chr19:48443501 [GRCh38] Chr19:48946758 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1991T>G (p.Phe664Cys)	single nucleotide variant	not provided [RCV003010410]	Chr19:48419714 [GRCh38] Chr19:48922971 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3762G>A (p.Arg1254=)	single nucleotide variant	not provided [RCV002599205]	Chr19:48443688 [GRCh38] Chr19:48946945 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2409C>T (p.Ile803=)	single nucleotide variant	not provided [RCV002649373]	Chr19:48441925 [GRCh38] Chr19:48945182 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2914G>A (p.Gly972Ser)	single nucleotide variant	not provided [RCV002599714]	Chr19:48442840 [GRCh38] Chr19:48946097 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1862-8C>T	single nucleotide variant	not provided [RCV003046099]	Chr19:48419577 [GRCh38] Chr19:48922834 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1938C>T (p.Pro646=)	single nucleotide variant	not provided [RCV002716628]	Chr19:48419661 [GRCh38] Chr19:48922918 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.523A>G (p.Ile175Val)	single nucleotide variant	not provided [RCV002922660]	Chr19:48404791 [GRCh38] Chr19:48908048 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3771dup (p.Gly1258fs)	duplication	not provided [RCV002876963]	Chr19:48443696..48443697 [GRCh38] Chr19:48946953..48946954 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2913G>A (p.Gln971=)	single nucleotide variant	not provided [RCV003047255]	Chr19:48442839 [GRCh38] Chr19:48946096 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2297T>G (p.Met766Arg)	single nucleotide variant	not provided [RCV002832875]	Chr19:48441813 [GRCh38] Chr19:48945070 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3480C>T (p.Gly1160=)	single nucleotide variant	not provided [RCV003011554]	Chr19:48443406 [GRCh38] Chr19:48946663 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3872C>G (p.Ser1291Cys)	single nucleotide variant	not provided [RCV003060067]	Chr19:48443798 [GRCh38] Chr19:48947055 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.409A>T (p.Thr137Ser)	single nucleotide variant	Inborn genetic diseases [RCV002920876]	Chr19:48398801 [GRCh38] Chr19:48902058 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3598G>T (p.Asp1200Tyr)	single nucleotide variant	not provided [RCV002806068]	Chr19:48443524 [GRCh38] Chr19:48946781 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3445C>T (p.Pro1149Ser)	single nucleotide variant	not provided [RCV002963111]	Chr19:48443371 [GRCh38] Chr19:48946628 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.803C>T (p.Ser268Phe)	single nucleotide variant	not provided [RCV002922785]	Chr19:48405071 [GRCh38] Chr19:48908328 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2214del (p.Gln738fs)	deletion	not provided [RCV003030122]	Chr19:48421907 [GRCh38] Chr19:48925164 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.628G>A (p.Gly210Ser)	single nucleotide variant	not provided [RCV003047584]	Chr19:48404896 [GRCh38] Chr19:48908153 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1118A>C (p.Asp373Ala)	single nucleotide variant	not provided [RCV002922808]	Chr19:48414023 [GRCh38] Chr19:48917280 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.120_128dup (p.Gly43_Gly44insProGlyGly)	duplication	not provided [RCV003029138]	Chr19:48398509..48398510 [GRCh38] Chr19:48901766..48901767 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3060C>A (p.Pro1020=)	single nucleotide variant	not provided [RCV002579836]	Chr19:48442986 [GRCh38] Chr19:48946243 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3350A>G (p.Asp1117Gly)	single nucleotide variant	not provided [RCV002966112]	Chr19:48443276 [GRCh38] Chr19:48946533 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3923C>G (p.Pro1308Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV005208190]\|not provided [RCV003048163]	Chr19:48443849 [GRCh38] Chr19:48947106 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3228G>A (p.Ala1076=)	single nucleotide variant	not provided [RCV002646998]	Chr19:48443154 [GRCh38] Chr19:48946411 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3478G>A (p.Gly1160Ser)	single nucleotide variant	not provided [RCV003061914]	Chr19:48443404 [GRCh38] Chr19:48946661 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.690C>T (p.Ala230=)	single nucleotide variant	not provided [RCV003047666]	Chr19:48404958 [GRCh38] Chr19:48908215 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3363G>A (p.Leu1121=)	single nucleotide variant	not provided [RCV002580718]	Chr19:48443289 [GRCh38] Chr19:48946546 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3035G>A (p.Arg1012His)	single nucleotide variant	not provided [RCV002811433]	Chr19:48442961 [GRCh38] Chr19:48946218 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3560A>G (p.Glu1187Gly)	single nucleotide variant	GRIN2D-related disorder [RCV003953823]\|not provided [RCV003043717]	Chr19:48443486 [GRCh38] Chr19:48946743 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3116C>A (p.Thr1039Asn)	single nucleotide variant	not provided [RCV003048301]	Chr19:48443042 [GRCh38] Chr19:48946299 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3129G>A (p.Pro1043=)	single nucleotide variant	not provided [RCV003030025]	Chr19:48443055 [GRCh38] Chr19:48946312 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3665G>A (p.Arg1222His)	single nucleotide variant	not provided [RCV003028539]	Chr19:48443591 [GRCh38] Chr19:48946848 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1582-12C>T	single nucleotide variant	not provided [RCV002746553]	Chr19:48415990 [GRCh38] Chr19:48919247 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1686C>T (p.Ser562=)	single nucleotide variant	not provided [RCV003026450]	Chr19:48416106 [GRCh38] Chr19:48919363 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3772G>A (p.Gly1258Arg)	single nucleotide variant	Inborn genetic diseases [RCV002959375]	Chr19:48443698 [GRCh38] Chr19:48946955 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2252+19C>T	single nucleotide variant	not provided [RCV002672040]	Chr19:48421964 [GRCh38] Chr19:48925221 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1421C>T (p.Pro474Leu)	single nucleotide variant	Inborn genetic diseases [RCV002646857]\|not provided [RCV002653830]	Chr19:48414872 [GRCh38] Chr19:48918129 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.937C>T (p.Arg313Trp)	single nucleotide variant	not provided [RCV002580201]	Chr19:48405205 [GRCh38] Chr19:48908462 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1602C>T (p.Asp534=)	single nucleotide variant	GRIN2D-related disorder [RCV004750823]\|not provided [RCV002602258]	Chr19:48416022 [GRCh38] Chr19:48919279 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1844G>C (p.Ser615Thr)	single nucleotide variant	not provided [RCV002630389]	Chr19:48419342 [GRCh38] Chr19:48922599 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1750G>A (p.Ala584Thr)	single nucleotide variant	not provided [RCV002746348]	Chr19:48419248 [GRCh38] Chr19:48922505 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2752C>G (p.Pro918Ala)	single nucleotide variant	Inborn genetic diseases [RCV002703041]\|not provided [RCV005059231]	Chr19:48442678 [GRCh38] Chr19:48945935 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.25G>A (p.Gly9Ser)	single nucleotide variant	not provided [RCV002792079]	Chr19:48398417 [GRCh38] Chr19:48901674 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3209C>T (p.Pro1070Leu)	single nucleotide variant	not provided [RCV002811059]	Chr19:48443135 [GRCh38] Chr19:48946392 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3112_3126del (p.Ala1038_Gly1042del)	deletion	not provided [RCV002938768]	Chr19:48443037..48443051 [GRCh38] Chr19:48946294..48946308 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.872C>G (p.Pro291Arg)	single nucleotide variant	not provided [RCV003065095]	Chr19:48405140 [GRCh38] Chr19:48908397 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3697_3714del (p.Pro1233_Ala1238del)	deletion	not provided [RCV002807169]	Chr19:48443622..48443639 [GRCh38] Chr19:48946879..48946896 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1750G>T (p.Ala584Ser)	single nucleotide variant	not provided [RCV002834913]	Chr19:48419248 [GRCh38] Chr19:48922505 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1816T>C (p.Tyr606His)	single nucleotide variant	not provided [RCV002649862]	Chr19:48419314 [GRCh38] Chr19:48922571 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3420G>C (p.Pro1140=)	single nucleotide variant	not provided [RCV002670895]	Chr19:48443346 [GRCh38] Chr19:48946603 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3902C>T (p.Ala1301Val)	single nucleotide variant	not provided [RCV003009546]	Chr19:48443828 [GRCh38] Chr19:48947085 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1575C>T (p.Ile525=)	single nucleotide variant	not provided [RCV003051669]	Chr19:48415026 [GRCh38] Chr19:48918283 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.723G>A (p.Ala241=)	single nucleotide variant	not provided [RCV002725853]	Chr19:48404991 [GRCh38] Chr19:48908248 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.297C>A (p.Leu99=)	single nucleotide variant	not provided [RCV002609204]	Chr19:48398689 [GRCh38] Chr19:48901946 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3649G>A (p.Gly1217Arg)	single nucleotide variant	not provided [RCV002608323]	Chr19:48443575 [GRCh38] Chr19:48946832 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3950G>T (p.Gly1317Val)	single nucleotide variant	not provided [RCV002589748]	Chr19:48443876 [GRCh38] Chr19:48947133 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3668G>A (p.Arg1223Gln)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV005400546]\|not provided [RCV003068813]	Chr19:48443594 [GRCh38] Chr19:48946851 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2740C>T (p.Pro914Ser)	single nucleotide variant	not provided [RCV002721344]	Chr19:48442666 [GRCh38] Chr19:48945923 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.457A>T (p.Thr153Ser)	single nucleotide variant	not provided [RCV002658030]	Chr19:48398849 [GRCh38] Chr19:48902106 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2674-11C>T	single nucleotide variant	not provided [RCV002586298]	Chr19:48442589 [GRCh38] Chr19:48945846 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.984C>T (p.Ala328=)	single nucleotide variant	not provided [RCV002610638]	Chr19:48405252 [GRCh38] Chr19:48908509 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.12C>A (p.Ala4=)	single nucleotide variant	not provided [RCV002583973]	Chr19:48398404 [GRCh38] Chr19:48901661 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1332C>T (p.Ile444=)	single nucleotide variant	not provided [RCV002587400]	Chr19:48414504 [GRCh38] Chr19:48917761 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.851G>A (p.Gly284Asp)	single nucleotide variant	not provided [RCV002607463]	Chr19:48405119 [GRCh38] Chr19:48908376 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3738C>G (p.Ala1246=)	single nucleotide variant	not provided [RCV002613354]	Chr19:48443664 [GRCh38] Chr19:48946921 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3122T>G (p.Val1041Gly)	single nucleotide variant	Inborn genetic diseases [RCV002724851]	Chr19:48443048 [GRCh38] Chr19:48946305 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3372G>A (p.Ala1124=)	single nucleotide variant	not provided [RCV002611419]	Chr19:48443298 [GRCh38] Chr19:48946555 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1048G>T (p.Ala350Ser)	single nucleotide variant	not provided [RCV002604762]	Chr19:48405316 [GRCh38] Chr19:48908573 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2556C>T (p.Leu852=)	single nucleotide variant	not provided [RCV002585540]	Chr19:48442265 [GRCh38] Chr19:48945522 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3520G>A (p.Gly1174Ser)	single nucleotide variant	not provided [RCV002658229]	Chr19:48443446 [GRCh38] Chr19:48946703 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2714C>T (p.Pro905Leu)	single nucleotide variant	not provided [RCV002603772]	Chr19:48442640 [GRCh38] Chr19:48945897 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1662C>T (p.Val554=)	single nucleotide variant	not provided [RCV002611908]	Chr19:48416082 [GRCh38] Chr19:48919339 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3591C>T (p.Cys1197=)	single nucleotide variant	not provided [RCV002611918]	Chr19:48443517 [GRCh38] Chr19:48946774 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2862C>G (p.Gly954=)	single nucleotide variant	not provided [RCV002606686]	Chr19:48442788 [GRCh38] Chr19:48946045 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1581+9G>A	single nucleotide variant	not provided [RCV002610518]	Chr19:48415041 [GRCh38] Chr19:48918298 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3847C>T (p.Pro1283Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003224687]	Chr19:48443773 [GRCh38] Chr19:48947030 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2788G>A (p.Ala930Thr)	single nucleotide variant	Inborn genetic diseases [RCV003218469]	Chr19:48442714 [GRCh38] Chr19:48945971 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.997G>A (p.Ala333Thr)	single nucleotide variant	Inborn genetic diseases [RCV003208133]\|not provided [RCV003730457]	Chr19:48405265 [GRCh38] Chr19:48908522 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3892C>G (p.Pro1298Ala)	single nucleotide variant	not provided [RCV003229331]	Chr19:48443818 [GRCh38] Chr19:48947075 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.181G>C (p.Ala61Pro)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003142527]	Chr19:48398573 [GRCh38] Chr19:48901830 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3431G>C (p.Arg1144Pro)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003142566]	Chr19:48443357 [GRCh38] Chr19:48946614 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2695_2697delinsACC (p.Ala899Thr)	indel	Developmental and epileptic encephalopathy, 46 [RCV003228172]	Chr19:48442621..48442623 [GRCh38] Chr19:48945878..48945880 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.21_29del (p.8RGP[1])	deletion	not provided [RCV003321400]	Chr19:48398408..48398416 [GRCh38] Chr19:48901665..48901673 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2711C>G (p.Pro904Arg)	single nucleotide variant	Inborn genetic diseases [RCV005353164]\|not specified [RCV003324403]	Chr19:48442637 [GRCh38] Chr19:48945894 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.607T>C (p.Tyr203His)	single nucleotide variant	not provided [RCV003325394]	Chr19:48404875 [GRCh38] Chr19:48908132 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_000836.4(GRIN2D):c.163C>G (p.Leu55Val)	single nucleotide variant	See cases [RCV004798167]	Chr19:48398555 [GRCh38] Chr19:48901812 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1294C>T (p.Leu432Phe)	single nucleotide variant	not provided [RCV003329987]	Chr19:48414466 [GRCh38] Chr19:48917723 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2782G>T (p.Gly928Trp)	single nucleotide variant	not provided [RCV003425303]	Chr19:48442708 [GRCh38] Chr19:48945965 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2858G>C (p.Gly953Ala)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV004723286]\|Inborn genetic diseases [RCV003361670]\|not provided [RCV005061330]	Chr19:48442784 [GRCh38] Chr19:48946041 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.1282G>A (p.Asp428Asn)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003989839]\|Inborn genetic diseases [RCV003372542]	Chr19:48414454 [GRCh38] Chr19:48917711 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.3235G>T (p.Ala1079Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV004723320]\|not provided [RCV003457040]	Chr19:48443161 [GRCh38] Chr19:48946418 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.2086C>T (p.Arg696Cys)	single nucleotide variant	Inborn genetic diseases [RCV003374763]	Chr19:48419809 [GRCh38] Chr19:48923066 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.223G>T (p.Ala75Ser)	single nucleotide variant	Inborn genetic diseases [RCV003371193]	Chr19:48398615 [GRCh38] Chr19:48901872 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.224C>T (p.Ala75Val)	single nucleotide variant	Inborn genetic diseases [RCV003371194]	Chr19:48398616 [GRCh38] Chr19:48901873 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1033G>A (p.Gly345Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003448790]\|Inborn genetic diseases [RCV005335776]\|not provided [RCV003778501]	Chr19:48405301 [GRCh38] Chr19:48908558 [GRCh37] Chr19:19q13.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_000836.4(GRIN2D):c.3238G>C (p.Gly1080Arg)	single nucleotide variant	Inborn genetic diseases [RCV003369642]\|not provided [RCV003542484]	Chr19:48443164 [GRCh38] Chr19:48946421 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2748C>T (p.Pro916=)	single nucleotide variant	not provided [RCV003569941]	Chr19:48442674 [GRCh38] Chr19:48945931 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2204G>T (p.Arg735Leu)	single nucleotide variant	not provided [RCV003571873]	Chr19:48421897 [GRCh38] Chr19:48925154 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1861+9C>G	single nucleotide variant	not provided [RCV003568958]	Chr19:48419368 [GRCh38] Chr19:48922625 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2286G>A (p.Val762=)	single nucleotide variant	not provided [RCV003875525]	Chr19:48441802 [GRCh38] Chr19:48945059 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1034G>C (p.Gly345Ala)	single nucleotide variant	not provided [RCV003569930]	Chr19:48405302 [GRCh38] Chr19:48908559 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.107_116dup (p.Gly40fs)	duplication	not provided [RCV003443294]	Chr19:48398489..48398490 [GRCh38] Chr19:48901746..48901747 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2563G>T (p.Ala855Ser)	single nucleotide variant	GRIN2D-related disorder [RCV003402175]	Chr19:48442272 [GRCh38] Chr19:48945529 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3863C>G (p.Thr1288Ser)	single nucleotide variant	GRIN2D-related disorder [RCV003405842]	Chr19:48443789 [GRCh38] Chr19:48947046 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.673C>T (p.Pro225Ser)	single nucleotide variant	not provided [RCV003441213]	Chr19:48404941 [GRCh38] Chr19:48908198 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3889T>C (p.Cys1297Arg)	single nucleotide variant	not provided [RCV003425305]	Chr19:48443815 [GRCh38] Chr19:48947072 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.156C>A (p.Asn52Lys)	single nucleotide variant	not specified [RCV003404812]	Chr19:48398548 [GRCh38] Chr19:48901805 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3221_3222delinsGG (p.Pro1074Arg)	indel	not provided [RCV003825655]	Chr19:48443147..48443148 [GRCh38] Chr19:48946404..48946405 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3512C>T (p.Pro1171Leu)	single nucleotide variant	GRIN2D-related disorder [RCV003391444]	Chr19:48443438 [GRCh38] Chr19:48946695 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3518G>C (p.Ser1173Thr)	single nucleotide variant	GRIN2D-related disorder [RCV003412174]	Chr19:48443444 [GRCh38] Chr19:48946701 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1065C>T (p.His355=)	single nucleotide variant	not provided [RCV003407057]	Chr19:48405333 [GRCh38] Chr19:48908590 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2727G>C (p.Pro909=)	single nucleotide variant	not provided [RCV003407058]	Chr19:48442653 [GRCh38] Chr19:48945910 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1848G>A (p.Leu616=)	single nucleotide variant	not provided [RCV003415347]	Chr19:48419346 [GRCh38] Chr19:48922603 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2604G>A (p.Leu868=)	single nucleotide variant	not provided [RCV003415348]	Chr19:48442313 [GRCh38] Chr19:48945570 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3774G>T (p.Gly1258=)	single nucleotide variant	not provided [RCV003415349]	Chr19:48443700 [GRCh38] Chr19:48946957 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1605G>A (p.Met535Ile)	single nucleotide variant	not provided [RCV003443375]	Chr19:48416025 [GRCh38] Chr19:48919282 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3812C>G (p.Ser1271Trp)	single nucleotide variant	GRIN2D-related disorder [RCV003400299]	Chr19:48443738 [GRCh38] Chr19:48946995 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3228G>C (p.Ala1076=)	single nucleotide variant	not provided [RCV003425304]	Chr19:48443154 [GRCh38] Chr19:48946411 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2712G>C (p.Pro904=)	single nucleotide variant	not provided [RCV003425302]	Chr19:48442638 [GRCh38] Chr19:48945895 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.282G>A (p.Ser94=)	single nucleotide variant	not provided [RCV003425301]	Chr19:48398674 [GRCh38] Chr19:48901931 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3422A>T (p.Tyr1141Phe)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003388709]	Chr19:48443348 [GRCh38] Chr19:48946605 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3705C>A (p.Arg1235=)	single nucleotide variant	not provided [RCV003407059]	Chr19:48443631 [GRCh38] Chr19:48946888 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1387C>G (p.Arg463Gly)	single nucleotide variant	not provided [RCV003831113]	Chr19:48414559 [GRCh38] Chr19:48917816 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2253-9del	deletion	not provided [RCV003662724]	Chr19:48441760 [GRCh38] Chr19:48945017 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3968G>T (p.Arg1323Leu)	single nucleotide variant	not provided [RCV003572545]	Chr19:48443894 [GRCh38] Chr19:48947151 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3915G>A (p.Pro1305=)	single nucleotide variant	not provided [RCV003876381]	Chr19:48443841 [GRCh38] Chr19:48947098 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2791C>G (p.Pro931Ala)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV004723424]\|not provided [RCV003693642]	Chr19:48442717 [GRCh38] Chr19:48945974 [GRCh37] Chr19:19q13.33	likely benign\|uncertain significance
NM_000836.4(GRIN2D):c.2673+17G>T	single nucleotide variant	not provided [RCV003691534]	Chr19:48442399 [GRCh38] Chr19:48945656 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3196C>G (p.Pro1066Ala)	single nucleotide variant	not provided [RCV003740366]	Chr19:48443122 [GRCh38] Chr19:48946379 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.34G>A (p.Gly12Ser)	single nucleotide variant	Inborn genetic diseases [RCV004621840]\|not provided [RCV003662297]	Chr19:48398426 [GRCh38] Chr19:48901683 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.679G>A (p.Ala227Thr)	single nucleotide variant	not provided [RCV003578667]	Chr19:48404947 [GRCh38] Chr19:48908204 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1146A>T (p.Leu382=)	single nucleotide variant	not provided [RCV003695196]	Chr19:48414051 [GRCh38] Chr19:48917308 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3709C>T (p.Arg1237Trp)	single nucleotide variant	not provided [RCV003661186]	Chr19:48443635 [GRCh38] Chr19:48946892 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3229G>A (p.Gly1077Ser)	single nucleotide variant	not provided [RCV003714337]	Chr19:48443155 [GRCh38] Chr19:48946412 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2256G>A (p.Lys752=)	single nucleotide variant	not provided [RCV003578583]	Chr19:48441772 [GRCh38] Chr19:48945029 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.408G>C (p.Gln136His)	single nucleotide variant	not provided [RCV003575677]	Chr19:48398800 [GRCh38] Chr19:48902057 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1854G>C (p.Thr618=)	single nucleotide variant	not provided [RCV003713067]	Chr19:48419352 [GRCh38] Chr19:48922609 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1813G>T (p.Glu605Ter)	single nucleotide variant	not provided [RCV003691929]	Chr19:48419311 [GRCh38] Chr19:48922568 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.465+17C>T	single nucleotide variant	not provided [RCV003827539]	Chr19:48398874 [GRCh38] Chr19:48902131 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1412+13G>A	single nucleotide variant	not provided [RCV003662718]	Chr19:48414597 [GRCh38] Chr19:48917854 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2857G>T (p.Gly953Trp)	single nucleotide variant	not provided [RCV003690210]	Chr19:48442783 [GRCh38] Chr19:48946040 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2253-13C>A	single nucleotide variant	not provided [RCV003577736]	Chr19:48441756 [GRCh38] Chr19:48945013 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2895C>T (p.Tyr965=)	single nucleotide variant	not provided [RCV003662263]	Chr19:48442821 [GRCh38] Chr19:48946078 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2853G>A (p.Pro951=)	single nucleotide variant	not provided [RCV003716020]	Chr19:48442779 [GRCh38] Chr19:48946036 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.150G>A (p.Pro50=)	single nucleotide variant	not provided [RCV003827752]	Chr19:48398542 [GRCh38] Chr19:48901799 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2252+12C>T	single nucleotide variant	not provided [RCV003572066]	Chr19:48421957 [GRCh38] Chr19:48925214 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3211C>T (p.Leu1071=)	single nucleotide variant	not provided [RCV003692966]	Chr19:48443137 [GRCh38] Chr19:48946394 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1430C>T (p.Pro477Leu)	single nucleotide variant	not provided [RCV003659723]	Chr19:48414881 [GRCh38] Chr19:48918138 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3817G>A (p.Glu1273Lys)	single nucleotide variant	not provided [RCV003662351]	Chr19:48443743 [GRCh38] Chr19:48947000 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3542G>C (p.Arg1181Pro)	single nucleotide variant	not provided [RCV003830164]	Chr19:48443468 [GRCh38] Chr19:48946725 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3608A>G (p.Asp1203Gly)	single nucleotide variant	not provided [RCV003695489]	Chr19:48443534 [GRCh38] Chr19:48946791 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1736-10T>C	single nucleotide variant	not provided [RCV003662914]	Chr19:48419224 [GRCh38] Chr19:48922481 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3554G>A (p.Ser1185Asn)	single nucleotide variant	not provided [RCV003825564]	Chr19:48443480 [GRCh38] Chr19:48946737 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.465+12CGGGG[4]	microsatellite	not provided [RCV003693962]	Chr19:48398868..48398869 [GRCh38] Chr19:48902125..48902126 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3500A>G (p.Asp1167Gly)	single nucleotide variant	not provided [RCV003544792]	Chr19:48443426 [GRCh38] Chr19:48946683 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3946C>G (p.Arg1316Gly)	single nucleotide variant	not provided [RCV003661216]	Chr19:48443872 [GRCh38] Chr19:48947129 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3390G>A (p.Glu1130=)	single nucleotide variant	not provided [RCV003578439]	Chr19:48443316 [GRCh38] Chr19:48946573 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3220C>A (p.Pro1074Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003493009]	Chr19:48443146 [GRCh38] Chr19:48946403 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2887C>T (p.Arg963Cys)	single nucleotide variant	not provided [RCV003695356]	Chr19:48442813 [GRCh38] Chr19:48946070 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1791C>T (p.Val597=)	single nucleotide variant	not provided [RCV003543922]	Chr19:48419289 [GRCh38] Chr19:48922546 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.846C>T (p.Gly282=)	single nucleotide variant	not provided [RCV003663240]	Chr19:48405114 [GRCh38] Chr19:48908371 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2441-12G>C	single nucleotide variant	not provided [RCV003695366]	Chr19:48442138 [GRCh38] Chr19:48945395 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2099G>A (p.Arg700Lys)	single nucleotide variant	not provided [RCV003692651]	Chr19:48421792 [GRCh38] Chr19:48925049 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.122C>G (p.Pro41Arg)	single nucleotide variant	not provided [RCV003689634]	Chr19:48398514 [GRCh38] Chr19:48901771 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1070G>A (p.Gly357Asp)	single nucleotide variant	not provided [RCV003687187]	Chr19:48405338 [GRCh38] Chr19:48908595 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3717G>A (p.Ser1239=)	single nucleotide variant	not provided [RCV003661651]	Chr19:48443643 [GRCh38] Chr19:48946900 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.165C>A (p.Leu55=)	single nucleotide variant	not provided [RCV003692270]	Chr19:48398557 [GRCh38] Chr19:48901814 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3796G>T (p.Ala1266Ser)	single nucleotide variant	not provided [RCV003693036]	Chr19:48443722 [GRCh38] Chr19:48946979 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2614C>T (p.Arg872Cys)	single nucleotide variant	not provided [RCV003876762]	Chr19:48442323 [GRCh38] Chr19:48945580 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3332C>T (p.Ser1111Leu)	single nucleotide variant	not provided [RCV003693190]	Chr19:48443258 [GRCh38] Chr19:48946515 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1894T>G (p.Ser632Ala)	single nucleotide variant	not provided [RCV003547334]	Chr19:48419617 [GRCh38] Chr19:48922874 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1127T>G (p.Phe376Cys)	single nucleotide variant	not provided [RCV003573107]	Chr19:48414032 [GRCh38] Chr19:48917289 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.701C>T (p.Ala234Val)	single nucleotide variant	not provided [RCV003660291]	Chr19:48404969 [GRCh38] Chr19:48908226 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3655_3673dup (p.Arg1225fs)	duplication	not provided [RCV003689257]	Chr19:48443570..48443571 [GRCh38] Chr19:48946827..48946828 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2987C>G (p.Ala996Gly)	single nucleotide variant	not provided [RCV003662836]	Chr19:48442913 [GRCh38] Chr19:48946170 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.722C>G (p.Ala241Gly)	single nucleotide variant	not provided [RCV003689313]	Chr19:48404990 [GRCh38] Chr19:48908247 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1595G>C (p.Arg532Pro)	single nucleotide variant	not provided [RCV003689168]	Chr19:48416015 [GRCh38] Chr19:48919272 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3537C>T (p.His1179=)	single nucleotide variant	not provided [RCV003689123]	Chr19:48443463 [GRCh38] Chr19:48946720 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3694C>T (p.His1232Tyr)	single nucleotide variant	not provided [RCV003572064]	Chr19:48443620 [GRCh38] Chr19:48946877 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.906C>T (p.Ala302=)	single nucleotide variant	not provided [RCV003875859]	Chr19:48405174 [GRCh38] Chr19:48908431 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1344A>G (p.Ala448=)	single nucleotide variant	not provided [RCV003692556]	Chr19:48414516 [GRCh38] Chr19:48917773 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3887G>A (p.Arg1296Lys)	single nucleotide variant	Inborn genetic diseases [RCV004978902]\|not provided [RCV003545194]	Chr19:48443813 [GRCh38] Chr19:48947070 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3696C>T (p.His1232=)	single nucleotide variant	not provided [RCV003712965]	Chr19:48443622 [GRCh38] Chr19:48946879 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3740C>T (p.Ala1247Val)	single nucleotide variant	not provided [RCV003686562]	Chr19:48443666 [GRCh38] Chr19:48946923 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.896_899dup (p.Gly303fs)	duplication	not provided [RCV003662697]	Chr19:48405163..48405164 [GRCh38] Chr19:48908420..48908421 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.478A>G (p.Thr160Ala)	single nucleotide variant	not provided [RCV003825113]	Chr19:48404746 [GRCh38] Chr19:48908003 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2027A>T (p.Asn676Ile)	single nucleotide variant	not provided [RCV003687954]	Chr19:48419750 [GRCh38] Chr19:48923007 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3327G>A (p.Glu1109=)	single nucleotide variant	not provided [RCV003659691]	Chr19:48443253 [GRCh38] Chr19:48946510 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2091+18G>C	single nucleotide variant	not provided [RCV003850199]	Chr19:48419832 [GRCh38] Chr19:48923089 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2599C>T (p.His867Tyr)	single nucleotide variant	Developmental disorder [RCV003764468]	Chr19:48442308 [GRCh38] Chr19:48945565 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.715G>T (p.Val239Phe)	single nucleotide variant	not provided [RCV003580558]	Chr19:48404983 [GRCh38] Chr19:48908240 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3147C>T (p.Ala1049=)	single nucleotide variant	not provided [RCV003697837]	Chr19:48443073 [GRCh38] Chr19:48946330 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1378G>T (p.Val460Phe)	single nucleotide variant	not provided [RCV003716913]	Chr19:48414550 [GRCh38] Chr19:48917807 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.13G>A (p.Gly5Ser)	single nucleotide variant	not provided [RCV003579796]	Chr19:48398405 [GRCh38] Chr19:48901662 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2373C>T (p.Ile791=)	single nucleotide variant	not provided [RCV003833184]	Chr19:48441889 [GRCh38] Chr19:48945146 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1201-11C>T	single nucleotide variant	not provided [RCV003850753]	Chr19:48414362 [GRCh38] Chr19:48917619 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.290G>A (p.Arg97His)	single nucleotide variant	not provided [RCV003663966]	Chr19:48398682 [GRCh38] Chr19:48901939 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3355G>A (p.Glu1119Lys)	single nucleotide variant	not provided [RCV003697480]	Chr19:48443281 [GRCh38] Chr19:48946538 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1962C>A (p.Thr654=)	single nucleotide variant	not provided [RCV004812165]	Chr19:48419685 [GRCh38] Chr19:48922942 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3199G>C (p.Glu1067Gln)	single nucleotide variant	not provided [RCV003834613]	Chr19:48443125 [GRCh38] Chr19:48946382 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1230C>T (p.Arg410=)	single nucleotide variant	not provided [RCV003724457]	Chr19:48414402 [GRCh38] Chr19:48917659 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2157GAA[1] (p.Lys720del)	microsatellite	not provided [RCV003834890]	Chr19:48421849..48421851 [GRCh38] Chr19:48925106..48925108 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2508G>A (p.Met836Ile)	single nucleotide variant	not provided [RCV003840573]	Chr19:48442217 [GRCh38] Chr19:48945474 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.4005G>C (p.Glu1335Asp)	single nucleotide variant	not provided [RCV003669640]	Chr19:48443931 [GRCh38] Chr19:48947188 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.122C>T (p.Pro41Leu)	single nucleotide variant	not provided [RCV003832035]	Chr19:48398514 [GRCh38] Chr19:48901771 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2091+24_2091+34del	deletion	not provided [RCV003838414]	Chr19:48419832..48419842 [GRCh38] Chr19:48923089..48923099 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1582-19_1582-17del	microsatellite	not provided [RCV003549122]	Chr19:48415980..48415982 [GRCh38] Chr19:48919237..48919239 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1861+17C>T	single nucleotide variant	not provided [RCV003838397]\|not specified [RCV005240952]	Chr19:48419376 [GRCh38] Chr19:48922633 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.745G>A (p.Ala249Thr)	single nucleotide variant	Inborn genetic diseases [RCV005335854]\|not provided [RCV003701788]	Chr19:48405013 [GRCh38] Chr19:48908270 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2405C>T (p.Pro802Leu)	single nucleotide variant	not provided [RCV003717143]	Chr19:48441921 [GRCh38] Chr19:48945178 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1431C>G (p.Pro477=)	single nucleotide variant	not provided [RCV003665629]	Chr19:48414882 [GRCh38] Chr19:48918139 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1187G>C (p.Arg396Thr)	single nucleotide variant	not provided [RCV003664664]	Chr19:48414092 [GRCh38] Chr19:48917349 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1479G>A (p.Lys493=)	single nucleotide variant	not provided [RCV003833735]	Chr19:48414930 [GRCh38] Chr19:48918187 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3222_3230del (p.1076AGG[1])	deletion	not provided [RCV003839957]	Chr19:48443148..48443156 [GRCh38] Chr19:48946405..48946413 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3550G>A (p.Ala1184Thr)	single nucleotide variant	not provided [RCV003580509]	Chr19:48443476 [GRCh38] Chr19:48946733 [GRCh37] Chr19:19q13.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_000836.4(GRIN2D):c.1582-15T>C	single nucleotide variant	not provided [RCV003833901]	Chr19:48415987 [GRCh38] Chr19:48919244 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2860G>T (p.Gly954Cys)	single nucleotide variant	not provided [RCV003673968]	Chr19:48442786 [GRCh38] Chr19:48946043 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1828G>C (p.Val610Leu)	single nucleotide variant	not provided [RCV003702093]	Chr19:48419326 [GRCh38] Chr19:48922583 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3840C>T (p.Arg1280=)	single nucleotide variant	not provided [RCV003850568]	Chr19:48443766 [GRCh38] Chr19:48947023 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.101G>A (p.Gly34Glu)	single nucleotide variant	not provided [RCV003815171]	Chr19:48398493 [GRCh38] Chr19:48901750 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1953G>A (p.Arg651=)	single nucleotide variant	not provided [RCV003838855]	Chr19:48419676 [GRCh38] Chr19:48922933 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3310C>G (p.Pro1104Ala)	single nucleotide variant	not provided [RCV003856184]	Chr19:48443236 [GRCh38] Chr19:48946493 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.840T>C (p.Ala280=)	single nucleotide variant	not provided [RCV003856090]	Chr19:48405108 [GRCh38] Chr19:48908365 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3693G>A (p.Ser1231=)	single nucleotide variant	not provided [RCV003673361]	Chr19:48443619 [GRCh38] Chr19:48946876 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3218G>C (p.Gly1073Ala)	single nucleotide variant	not provided [RCV003816457]	Chr19:48443144 [GRCh38] Chr19:48946401 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1932G>T (p.Ser644=)	single nucleotide variant	not provided [RCV003560544]	Chr19:48419655 [GRCh38] Chr19:48922912 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3231C>G (p.Gly1077=)	single nucleotide variant	not provided [RCV003839958]	Chr19:48443157 [GRCh38] Chr19:48946414 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3566T>C (p.Leu1189Pro)	single nucleotide variant	not provided [RCV003700991]	Chr19:48443492 [GRCh38] Chr19:48946749 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3900C>T (p.Ala1300=)	single nucleotide variant	not provided [RCV003672581]	Chr19:48443826 [GRCh38] Chr19:48947083 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2466G>A (p.Leu822=)	single nucleotide variant	not provided [RCV003817051]	Chr19:48442175 [GRCh38] Chr19:48945432 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2634G>A (p.Gly878=)	single nucleotide variant	not provided [RCV003701218]	Chr19:48442343 [GRCh38] Chr19:48945600 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.582C>T (p.Ala194=)	single nucleotide variant	not provided [RCV003672511]	Chr19:48404850 [GRCh38] Chr19:48908107 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.820A>C (p.Met274Leu)	single nucleotide variant	not provided [RCV003668980]	Chr19:48405088 [GRCh38] Chr19:48908345 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3658C>T (p.Pro1220Ser)	single nucleotide variant	not provided [RCV003673467]	Chr19:48443584 [GRCh38] Chr19:48946841 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1861C>T (p.Arg621Cys)	single nucleotide variant	not provided [RCV003817127]	Chr19:48419359 [GRCh38] Chr19:48922616 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.445G>A (p.Ala149Thr)	single nucleotide variant	not provided [RCV003673067]	Chr19:48398837 [GRCh38] Chr19:48902094 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.413C>T (p.Ser138Leu)	single nucleotide variant	not provided [RCV003670020]	Chr19:48398805 [GRCh38] Chr19:48902062 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.45G>A (p.Lys15=)	single nucleotide variant	not provided [RCV003702903]	Chr19:48398437 [GRCh38] Chr19:48901694 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2850G>A (p.Gly950=)	single nucleotide variant	not provided [RCV003838065]	Chr19:48442776 [GRCh38] Chr19:48946033 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1206C>T (p.Gly402=)	single nucleotide variant	not provided [RCV003702318]	Chr19:48414378 [GRCh38] Chr19:48917635 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3912G>A (p.Gly1304=)	single nucleotide variant	not provided [RCV003670957]	Chr19:48443838 [GRCh38] Chr19:48947095 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3290_3310del (p.Arg1097_Cys1103del)	deletion	not provided [RCV003838740]	Chr19:48443203..48443223 [GRCh38] Chr19:48946460..48946480 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.364C>A (p.Arg122Ser)	single nucleotide variant	not provided [RCV003699492]	Chr19:48398756 [GRCh38] Chr19:48902013 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1582G>A (p.Val528Met)	single nucleotide variant	not provided [RCV003549678]	Chr19:48416002 [GRCh38] Chr19:48919259 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.873C>T (p.Pro291=)	single nucleotide variant	not provided [RCV003837205]	Chr19:48405141 [GRCh38] Chr19:48908398 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.909G>T (p.Gly303=)	single nucleotide variant	not provided [RCV003666982]	Chr19:48405177 [GRCh38] Chr19:48908434 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.109G>A (p.Gly37Arg)	single nucleotide variant	not provided [RCV003667242]	Chr19:48398501 [GRCh38] Chr19:48901758 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.877C>T (p.Leu293Phe)	single nucleotide variant	not provided [RCV003672335]	Chr19:48405145 [GRCh38] Chr19:48908402 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2838C>G (p.Thr946=)	single nucleotide variant	not provided [RCV003668310]	Chr19:48442764 [GRCh38] Chr19:48946021 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1531G>A (p.Gly511Ser)	single nucleotide variant	not provided [RCV003548381]	Chr19:48414982 [GRCh38] Chr19:48918239 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.760G>A (p.Glu254Lys)	single nucleotide variant	Inborn genetic diseases [RCV005353303]\|not provided [RCV003833322]	Chr19:48405028 [GRCh38] Chr19:48908285 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.705G>C (p.Gln235His)	single nucleotide variant	not provided [RCV003663852]	Chr19:48404973 [GRCh38] Chr19:48908230 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1414C>A (p.Pro472Thr)	single nucleotide variant	not provided [RCV003724243]	Chr19:48414865 [GRCh38] Chr19:48918122 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.264G>A (p.Ala88=)	single nucleotide variant	not provided [RCV003835811]	Chr19:48398656 [GRCh38] Chr19:48901913 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1191G>A (p.Thr397=)	single nucleotide variant	not provided [RCV003671410]	Chr19:48414096 [GRCh38] Chr19:48917353 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3448G>A (p.Gly1150Ser)	single nucleotide variant	not provided [RCV003851547]	Chr19:48443374 [GRCh38] Chr19:48946631 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2644C>T (p.Arg882Cys)	single nucleotide variant	not provided [RCV003838450]	Chr19:48442353 [GRCh38] Chr19:48945610 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3848C>T (p.Pro1283Leu)	single nucleotide variant	not provided [RCV003668681]	Chr19:48443774 [GRCh38] Chr19:48947031 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.465+9G>A	single nucleotide variant	not provided [RCV003816456]	Chr19:48398866 [GRCh38] Chr19:48902123 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2797G>A (p.Val933Met)	single nucleotide variant	not provided [RCV003664010]	Chr19:48442723 [GRCh38] Chr19:48945980 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.321G>A (p.Leu107=)	single nucleotide variant	not provided [RCV003700086]	Chr19:48398713 [GRCh38] Chr19:48901970 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2878G>C (p.Gly960Arg)	single nucleotide variant	not provided [RCV003667438]	Chr19:48442804 [GRCh38] Chr19:48946061 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3474C>G (p.Leu1158=)	single nucleotide variant	not provided [RCV003733605]	Chr19:48443400 [GRCh38] Chr19:48946657 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2632G>A (p.Gly878Arg)	single nucleotide variant	not provided [RCV003542113]	Chr19:48442341 [GRCh38] Chr19:48945598 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1388G>A (p.Arg463Gln)	single nucleotide variant	not provided [RCV003864784]	Chr19:48414560 [GRCh38] Chr19:48917817 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2196C>T (p.Tyr732=)	single nucleotide variant	not provided [RCV003704577]	Chr19:48421889 [GRCh38] Chr19:48925146 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2773C>T (p.Pro925Ser)	single nucleotide variant	not provided [RCV003704686]	Chr19:48442699 [GRCh38] Chr19:48945956 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3965C>A (p.Thr1322Asn)	single nucleotide variant	not provided [RCV003728429]	Chr19:48443891 [GRCh38] Chr19:48947148 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2792C>G (p.Pro931Arg)	single nucleotide variant	not provided [RCV003846549]	Chr19:48442718 [GRCh38] Chr19:48945975 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.748C>G (p.Arg250Gly)	single nucleotide variant	not provided [RCV003711272]	Chr19:48405016 [GRCh38] Chr19:48908273 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3095C>T (p.Ala1032Val)	single nucleotide variant	Inborn genetic diseases [RCV004980980]\|not provided [RCV003728757]	Chr19:48443021 [GRCh38] Chr19:48946278 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.233G>A (p.Arg78His)	single nucleotide variant	not provided [RCV003859481]	Chr19:48398625 [GRCh38] Chr19:48901882 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1358G>C (p.Gly453Ala)	single nucleotide variant	not provided [RCV003858147]	Chr19:48414530 [GRCh38] Chr19:48917787 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3760C>G (p.Arg1254Gly)	single nucleotide variant	not provided [RCV003677072]	Chr19:48443686 [GRCh38] Chr19:48946943 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1939G>A (p.Val647Met)	single nucleotide variant	not provided [RCV003857448]	Chr19:48419662 [GRCh38] Chr19:48922919 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3110C>T (p.Ala1037Val)	single nucleotide variant	not provided [RCV003728307]	Chr19:48443036 [GRCh38] Chr19:48946293 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.849G>A (p.Gly283=)	single nucleotide variant	not provided [RCV003541803]	Chr19:48405117 [GRCh38] Chr19:48908374 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2198T>A (p.Met733Lys)	single nucleotide variant	not provided [RCV003552824]	Chr19:48421891 [GRCh38] Chr19:48925148 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.98C>T (p.Pro33Leu)	single nucleotide variant	not provided [RCV003678105]	Chr19:48398490 [GRCh38] Chr19:48901747 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.200C>T (p.Ala67Val)	single nucleotide variant	not provided [RCV003678949]	Chr19:48398592 [GRCh38] Chr19:48901849 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2872G>A (p.Ala958Thr)	single nucleotide variant	not provided [RCV003553393]	Chr19:48442798 [GRCh38] Chr19:48946055 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2574G>C (p.Leu858=)	single nucleotide variant	not provided [RCV003711566]	Chr19:48442283 [GRCh38] Chr19:48945540 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3251G>T (p.Gly1084Val)	single nucleotide variant	not provided [RCV003841819]	Chr19:48443177 [GRCh38] Chr19:48946434 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2566A>C (p.Met856Leu)	single nucleotide variant	not provided [RCV003551383]	Chr19:48442275 [GRCh38] Chr19:48945532 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3788C>A (p.Pro1263Gln)	single nucleotide variant	not provided [RCV003727428]	Chr19:48443714 [GRCh38] Chr19:48946971 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3859C>G (p.Leu1287Val)	single nucleotide variant	not provided [RCV003853972]	Chr19:48443785 [GRCh38] Chr19:48947042 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.993C>T (p.Ala331=)	single nucleotide variant	not provided [RCV003859105]	Chr19:48405261 [GRCh38] Chr19:48908518 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2149T>G (p.Ser717Ala)	single nucleotide variant	not provided [RCV003677034]	Chr19:48421842 [GRCh38] Chr19:48925099 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.60G>A (p.Leu20=)	single nucleotide variant	not provided [RCV003859562]	Chr19:48398452 [GRCh38] Chr19:48901709 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3693G>T (p.Ser1231=)	single nucleotide variant	not provided [RCV003681724]	Chr19:48443619 [GRCh38] Chr19:48946876 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1299G>A (p.Thr433=)	single nucleotide variant	not provided [RCV003843098]	Chr19:48414471 [GRCh38] Chr19:48917728 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2752C>A (p.Pro918Thr)	single nucleotide variant	not provided [RCV003844823]	Chr19:48442678 [GRCh38] Chr19:48945935 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.945C>T (p.Asp315=)	single nucleotide variant	not provided [RCV003729422]	Chr19:48405213 [GRCh38] Chr19:48908470 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3213_3214delinsTT (p.Leu1071_Leu1072=)	indel	not provided [RCV003867351]	Chr19:48443139..48443140 [GRCh38] Chr19:48946396..48946397 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.70T>A (p.Cys24Ser)	single nucleotide variant	GRIN2D-related disorder [RCV003939333]	Chr19:48398462 [GRCh38] Chr19:48901719 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1736-19C>T	single nucleotide variant	not provided [RCV003670535]	Chr19:48419215 [GRCh38] Chr19:48922472 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1064A>G (p.His355Arg)	single nucleotide variant	not provided [RCV003844869]	Chr19:48405332 [GRCh38] Chr19:48908589 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2674-14C>T	single nucleotide variant	not provided [RCV003861206]	Chr19:48442586 [GRCh38] Chr19:48945843 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1201-19C>T	single nucleotide variant	not provided [RCV003686012]	Chr19:48414354 [GRCh38] Chr19:48917611 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.33G>A (p.Arg11=)	single nucleotide variant	not provided [RCV003685736]	Chr19:48398425 [GRCh38] Chr19:48901682 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2422C>T (p.Leu808=)	single nucleotide variant	not provided [RCV003705225]	Chr19:48441938 [GRCh38] Chr19:48945195 [GRCh37] Chr19:19q13.33	likely benign
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	copy number gain	not specified [RCV003986127]	Chr19:48905537..51614930 [GRCh37] Chr19:19q13.33-13.41	likely pathogenic
NM_000836.4(GRIN2D):c.2837C>A (p.Thr946Asn)	single nucleotide variant	not provided [RCV003563756]	Chr19:48442763 [GRCh38] Chr19:48946020 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2972C>T (p.Pro991Leu)	single nucleotide variant	not provided [RCV003853853]	Chr19:48442898 [GRCh38] Chr19:48946155 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.787G>T (p.Ala263Ser)	single nucleotide variant	not provided [RCV003731895]	Chr19:48405055 [GRCh38] Chr19:48908312 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2538G>A (p.Ala846=)	single nucleotide variant	not provided [RCV003712460]	Chr19:48442247 [GRCh38] Chr19:48945504 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2855C>T (p.Pro952Leu)	single nucleotide variant	not provided [RCV003677752]	Chr19:48442781 [GRCh38] Chr19:48946038 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1251C>T (p.Ser417=)	single nucleotide variant	not provided [RCV003683261]	Chr19:48414423 [GRCh38] Chr19:48917680 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.902C>T (p.Pro301Leu)	single nucleotide variant	not provided [RCV003737682]	Chr19:48405170 [GRCh38] Chr19:48908427 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3603C>T (p.Gly1201=)	single nucleotide variant	not provided [RCV003683536]	Chr19:48443529 [GRCh38] Chr19:48946786 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1566C>T (p.Asn522=)	single nucleotide variant	not provided [RCV003709372]	Chr19:48415017 [GRCh38] Chr19:48918274 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2763C>T (p.Pro921=)	single nucleotide variant	not provided [RCV003869127]	Chr19:48442689 [GRCh38] Chr19:48945946 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2874C>A (p.Ala958=)	single nucleotide variant	not provided [RCV003683724]	Chr19:48442800 [GRCh38] Chr19:48946057 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3847C>A (p.Pro1283Thr)	single nucleotide variant	not provided [RCV003557070]	Chr19:48443773 [GRCh38] Chr19:48947030 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2441-12G>A	single nucleotide variant	not provided [RCV003869128]	Chr19:48442138 [GRCh38] Chr19:48945395 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3687G>A (p.Pro1229=)	single nucleotide variant	not provided [RCV003681879]	Chr19:48443613 [GRCh38] Chr19:48946870 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2865G>A (p.Ala955=)	single nucleotide variant	not provided [RCV003681818]	Chr19:48442791 [GRCh38] Chr19:48946048 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3419C>T (p.Pro1140Leu)	single nucleotide variant	not provided [RCV003868104]	Chr19:48443345 [GRCh38] Chr19:48946602 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3326A>G (p.Glu1109Gly)	single nucleotide variant	not provided [RCV003681937]	Chr19:48443252 [GRCh38] Chr19:48946509 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2310C>T (p.Asp770=)	single nucleotide variant	not provided [RCV003870952]	Chr19:48441826 [GRCh38] Chr19:48945083 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1016G>A (p.Gly339Asp)	single nucleotide variant	not provided [RCV003706130]	Chr19:48405284 [GRCh38] Chr19:48908541 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3951C>T (p.Gly1317=)	single nucleotide variant	not provided [RCV003870974]	Chr19:48443877 [GRCh38] Chr19:48947134 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2252+6C>T	single nucleotide variant	not provided [RCV003737282]	Chr19:48421951 [GRCh38] Chr19:48925208 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.892G>A (p.Ala298Thr)	single nucleotide variant	not provided [RCV003680526]	Chr19:48405160 [GRCh38] Chr19:48908417 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3233G>C (p.Gly1078Ala)	single nucleotide variant	not provided [RCV003871611]	Chr19:48443159 [GRCh38] Chr19:48946416 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3297_3301del (p.Pro1101fs)	microsatellite	not provided [RCV003552064]	Chr19:48443213..48443217 [GRCh38] Chr19:48946470..48946474 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.549C>T (p.Asp183=)	single nucleotide variant	not provided [RCV003869749]	Chr19:48404817 [GRCh38] Chr19:48908074 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.102_116del (p.Pro35_Gly39del)	deletion	not provided [RCV003841002]	Chr19:48398492..48398506 [GRCh38] Chr19:48901749..48901763 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.786G>A (p.Glu262=)	single nucleotide variant	not provided [RCV003867696]	Chr19:48405054 [GRCh38] Chr19:48908311 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2712G>A (p.Pro904=)	single nucleotide variant	not provided [RCV003729143]\|not specified [RCV005419692]	Chr19:48442638 [GRCh38] Chr19:48945895 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1000C>T (p.Leu334=)	single nucleotide variant	not provided [RCV003708977]	Chr19:48405268 [GRCh38] Chr19:48908525 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3361_3362del (p.Leu1121fs)	deletion	not provided [RCV003556987]	Chr19:48443287..48443288 [GRCh38] Chr19:48946544..48946545 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1582-17C>T	single nucleotide variant	not provided [RCV003707018]	Chr19:48415985 [GRCh38] Chr19:48919242 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1581+14C>T	single nucleotide variant	not provided [RCV003711110]	Chr19:48415046 [GRCh38] Chr19:48918303 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1254C>A (p.Arg418=)	single nucleotide variant	not provided [RCV003682386]	Chr19:48414426 [GRCh38] Chr19:48917683 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2102C>T (p.Pro701Leu)	single nucleotide variant	not provided [RCV003865586]	Chr19:48421795 [GRCh38] Chr19:48925052 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2673+1G>C	single nucleotide variant	not provided [RCV003568463]	Chr19:48442383 [GRCh38] Chr19:48945640 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.260T>C (p.Val87Ala)	single nucleotide variant	not provided [RCV003819137]	Chr19:48398652 [GRCh38] Chr19:48901909 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1413-8G>A	single nucleotide variant	not provided [RCV003682387]	Chr19:48414856 [GRCh38] Chr19:48918113 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.636G>C (p.Leu212=)	single nucleotide variant	not provided [RCV003678101]	Chr19:48404904 [GRCh38] Chr19:48908161 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3357G>A (p.Glu1119=)	single nucleotide variant	not provided [RCV003734742]	Chr19:48443283 [GRCh38] Chr19:48946540 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.879T>A (p.Leu293=)	single nucleotide variant	not provided [RCV003555501]	Chr19:48405147 [GRCh38] Chr19:48908404 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2981C>T (p.Pro994Leu)	single nucleotide variant	not provided [RCV003844156]	Chr19:48442907 [GRCh38] Chr19:48946164 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3089C>T (p.Pro1030Leu)	single nucleotide variant	not provided [RCV003675680]	Chr19:48443015 [GRCh38] Chr19:48946272 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2168G>A (p.Arg723His)	single nucleotide variant	not provided [RCV003682830]	Chr19:48421861 [GRCh38] Chr19:48925118 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1152C>T (p.Asn384=)	single nucleotide variant	not provided [RCV003707590]	Chr19:48414057 [GRCh38] Chr19:48917314 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3061G>A (p.Ala1021Thr)	single nucleotide variant	not provided [RCV003821759]	Chr19:48442987 [GRCh38] Chr19:48946244 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2888del (p.Arg963fs)	deletion	not provided [RCV003678037]	Chr19:48442814 [GRCh38] Chr19:48946071 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2897G>T (p.Gly966Val)	single nucleotide variant	not provided [RCV003844849]	Chr19:48442823 [GRCh38] Chr19:48946080 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3938G>A (p.Arg1313Gln)	single nucleotide variant	not provided [RCV003822468]	Chr19:48443864 [GRCh38] Chr19:48947121 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1809C>G (p.Ile603Met)	single nucleotide variant	not provided [RCV003823827]	Chr19:48419307 [GRCh38] Chr19:48922564 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3100_3114del (p.Pro1034_Ala1038del)	deletion	not provided [RCV003554589]	Chr19:48443024..48443038 [GRCh38] Chr19:48946281..48946295 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.69C>G (p.Ala23=)	single nucleotide variant	not provided [RCV003858250]\|not specified [RCV004701852]	Chr19:48398461 [GRCh38] Chr19:48901718 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3109G>A (p.Ala1037Thr)	single nucleotide variant	not provided [RCV003563706]	Chr19:48443035 [GRCh38] Chr19:48946292 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2695G>A (p.Ala899Thr)	single nucleotide variant	not provided [RCV003858146]	Chr19:48442621 [GRCh38] Chr19:48945878 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2825_2826delinsAA (p.Arg942Gln)	indel	not provided [RCV003566395]	Chr19:48442751..48442752 [GRCh38] Chr19:48946008..48946009 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.762G>T (p.Glu254Asp)	single nucleotide variant	not provided [RCV003709389]	Chr19:48405030 [GRCh38] Chr19:48908287 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.307C>T (p.Leu103Phe)	single nucleotide variant	not provided [RCV003550351]	Chr19:48398699 [GRCh38] Chr19:48901956 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1581+16G>A	single nucleotide variant	not provided [RCV003680146]	Chr19:48415048 [GRCh38] Chr19:48918305 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.146G>T (p.Arg49Leu)	single nucleotide variant	not provided [RCV003842515]	Chr19:48398538 [GRCh38] Chr19:48901795 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2067T>G (p.Thr689=)	single nucleotide variant	not provided [RCV003551664]	Chr19:48419790 [GRCh38] Chr19:48923047 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1576G>C (p.Gly526Arg)	single nucleotide variant	not provided [RCV003568069]	Chr19:48415027 [GRCh38] Chr19:48918284 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2896G>A (p.Gly966Ser)	single nucleotide variant	not provided [RCV003822570]	Chr19:48442822 [GRCh38] Chr19:48946079 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2323C>T (p.Leu775Phe)	single nucleotide variant	Inborn genetic diseases [RCV005353272]\|not provided [RCV003727406]	Chr19:48441839 [GRCh38] Chr19:48945096 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2775G>A (p.Pro925=)	single nucleotide variant	not provided [RCV003845192]	Chr19:48442701 [GRCh38] Chr19:48945958 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.141G>T (p.Gly47=)	single nucleotide variant	not provided [RCV003706871]	Chr19:48398533 [GRCh38] Chr19:48901790 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2231C>T (p.Ala744Val)	single nucleotide variant	not provided [RCV003709788]	Chr19:48421924 [GRCh38] Chr19:48925181 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1433G>C (p.Arg478Pro)	single nucleotide variant	not provided [RCV003541960]	Chr19:48414884 [GRCh38] Chr19:48918141 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1861+18C>T	single nucleotide variant	not provided [RCV003677596]	Chr19:48419377 [GRCh38] Chr19:48922634 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.302T>A (p.Leu101Gln)	single nucleotide variant	not provided [RCV003866623]	Chr19:48398694 [GRCh38] Chr19:48901951 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.207G>A (p.Leu69=)	single nucleotide variant	GRIN2D-related disorder [RCV003921595]	Chr19:48398599 [GRCh38] Chr19:48901856 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3910G>T (p.Gly1304Trp)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003990244]	Chr19:48443836 [GRCh38] Chr19:48947093 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.198G>C (p.Ala66=)	single nucleotide variant	GRIN2D-related disorder [RCV003902240]	Chr19:48398590 [GRCh38] Chr19:48901847 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.65T>A (p.Leu22Gln)	single nucleotide variant	GRIN2D-related disorder [RCV003929731]	Chr19:48398457 [GRCh38] Chr19:48901714 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1877C>G (p.Thr626Ser)	single nucleotide variant	GRIN2D-related disorder [RCV003897071]	Chr19:48419600 [GRCh38] Chr19:48922857 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2589C>T (p.Phe863=)	single nucleotide variant	GRIN2D-related disorder [RCV003969078]	Chr19:48442298 [GRCh38] Chr19:48945555 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1483C>T (p.Leu495=)	single nucleotide variant	not provided [RCV005059522]\|not specified [RCV004526498]	Chr19:48414934 [GRCh38] Chr19:48918191 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2112G>T (p.Gln704His)	single nucleotide variant	GRIN2D-related disorder [RCV003919842]	Chr19:48421805 [GRCh38] Chr19:48925062 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.204C>T (p.Arg68=)	single nucleotide variant	GRIN2D-related disorder [RCV003949734]	Chr19:48398596 [GRCh38] Chr19:48901853 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3133C>T (p.Leu1045Phe)	single nucleotide variant	Inborn genetic diseases [RCV004395893]	Chr19:48443059 [GRCh38] Chr19:48946316 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1622C>T (p.Thr541Ile)	single nucleotide variant	Inborn genetic diseases [RCV004395890]	Chr19:48416042 [GRCh38] Chr19:48919299 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3221C>T (p.Pro1074Leu)	single nucleotide variant	Inborn genetic diseases [RCV004395894]	Chr19:48443147 [GRCh38] Chr19:48946404 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.29C>T (p.Pro10Leu)	single nucleotide variant	Inborn genetic diseases [RCV004395892]	Chr19:48398421 [GRCh38] Chr19:48901678 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3534G>T (p.Trp1178Cys)	single nucleotide variant	not provided [RCV004575209]	Chr19:48443460 [GRCh38] Chr19:48946717 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.157G>A (p.Val53Met)	single nucleotide variant	not specified [RCV004587694]	Chr19:48398549 [GRCh38] Chr19:48901806 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3731C>T (p.Ala1244Val)	single nucleotide variant	Inborn genetic diseases [RCV004634825]\|not provided [RCV005102214]	Chr19:48443657 [GRCh38] Chr19:48946914 [GRCh37] Chr19:19q13.33	uncertain significance
NC_000019.9:g.(?_48901650)_(49055600_?)dup	duplication	not provided [RCV004579713]	Chr19:48901650..49055600 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.288G>A (p.Pro96=)	single nucleotide variant	not provided [RCV004575152]	Chr19:48398680 [GRCh38] Chr19:48901937 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3324C>T (p.Leu1108=)	single nucleotide variant	not specified [RCV004587925]	Chr19:48443250 [GRCh38] Chr19:48946507 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3946C>T (p.Arg1316Trp)	single nucleotide variant	Inborn genetic diseases [RCV004634826]	Chr19:48443872 [GRCh38] Chr19:48947129 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3854_3855del (p.Arg1285fs)	microsatellite	Developmental and epileptic encephalopathy, 46 [RCV004595343]	Chr19:48443776..48443777 [GRCh38] Chr19:48947033..48947034 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2698G>A (p.Glu900Lys)	single nucleotide variant	Inborn genetic diseases [RCV004634824]	Chr19:48442624 [GRCh38] Chr19:48945881 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.289C>A (p.Arg97Ser)	single nucleotide variant	not provided [RCV004576007]	Chr19:48398681 [GRCh38] Chr19:48901938 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.28C>A (p.Pro10Thr)	single nucleotide variant	Inborn genetic diseases [RCV004634822]\|not provided [RCV005059669]	Chr19:48398420 [GRCh38] Chr19:48901677 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3099C>G (p.Pro1033=)	single nucleotide variant	GRIN2D-related disorder [RCV004752353]	Chr19:48443025 [GRCh38] Chr19:48946282 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.583C>A (p.Pro195Thr)	single nucleotide variant	not provided [RCV004779937]	Chr19:48404851 [GRCh38] Chr19:48908108 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1562G>A (p.Trp521Ter)	single nucleotide variant	not provided [RCV004725758]	Chr19:48415013 [GRCh38] Chr19:48918270 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3943C>T (p.His1315Tyr)	single nucleotide variant	not provided [RCV004761014]	Chr19:48443869 [GRCh38] Chr19:48947126 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.459G>T (p.Thr153=)	single nucleotide variant	not provided [RCV004810252]	Chr19:48398851 [GRCh38] Chr19:48902108 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3906C>T (p.His1302=)	single nucleotide variant	GRIN2D-related disorder [RCV004752461]	Chr19:48443832 [GRCh38] Chr19:48947089 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2674G>A (p.Gly892Ser)	single nucleotide variant	not provided [RCV004775094]	Chr19:48442600 [GRCh38] Chr19:48945857 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1509C>A (p.Tyr503Ter)	single nucleotide variant	not provided [RCV004770809]	Chr19:48414960 [GRCh38] Chr19:48918217 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1567G>A (p.Gly523Ser)	single nucleotide variant	not provided [RCV004773581]	Chr19:48415018 [GRCh38] Chr19:48918275 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3035_3036delinsTT (p.Arg1012Leu)	indel	not provided [RCV004727697]	Chr19:48442961..48442962 [GRCh38] Chr19:48946218..48946219 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3090G>C (p.Pro1030=)	single nucleotide variant	GRIN2D-related disorder [RCV004752175]	Chr19:48443016 [GRCh38] Chr19:48946273 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1840C>A (p.Arg614Ser)	single nucleotide variant	not provided [RCV004759823]	Chr19:48419338 [GRCh38] Chr19:48922595 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1573A>G (p.Ile525Val)	single nucleotide variant	not provided [RCV004769252]	Chr19:48415024 [GRCh38] Chr19:48918281 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2751C>A (p.Ser917Arg)	single nucleotide variant	GRIN2D-related disorder [RCV004751048]	Chr19:48442677 [GRCh38] Chr19:48945934 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3168G>T (p.Pro1056=)	single nucleotide variant	GRIN2D-related disorder [RCV004730355]	Chr19:48443094 [GRCh38] Chr19:48946351 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.554C>T (p.Thr185Met)	single nucleotide variant	not provided [RCV004769381]	Chr19:48404822 [GRCh38] Chr19:48908079 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.847G>C (p.Gly283Arg)	single nucleotide variant	Inborn genetic diseases [RCV004977709]	Chr19:48405115 [GRCh38] Chr19:48908372 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2771G>T (p.Arg924Leu)	single nucleotide variant	Inborn genetic diseases [RCV004977711]	Chr19:48442697 [GRCh38] Chr19:48945954 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.143C>A (p.Ala48Glu)	single nucleotide variant	Inborn genetic diseases [RCV004977713]	Chr19:48398535 [GRCh38] Chr19:48901792 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2765C>A (p.Ala922Glu)	single nucleotide variant	Inborn genetic diseases [RCV004977708]	Chr19:48442691 [GRCh38] Chr19:48945948 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3512C>A (p.Pro1171Gln)	single nucleotide variant	Inborn genetic diseases [RCV004977710]	Chr19:48443438 [GRCh38] Chr19:48946695 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2885A>G (p.His962Arg)	single nucleotide variant	Inborn genetic diseases [RCV004977715]	Chr19:48442811 [GRCh38] Chr19:48946068 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.862C>T (p.Pro288Ser)	single nucleotide variant	Inborn genetic diseases [RCV004985630]	Chr19:48405130 [GRCh38] Chr19:48908387 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1213G>C (p.Glu405Gln)	single nucleotide variant	Inborn genetic diseases [RCV004985629]	Chr19:48414385 [GRCh38] Chr19:48917642 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2999C>G (p.Pro1000Arg)	single nucleotide variant	Inborn genetic diseases [RCV004977714]	Chr19:48442925 [GRCh38] Chr19:48946182 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1451G>A (p.Cys484Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004977712]	Chr19:48414902 [GRCh38] Chr19:48918159 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1402C>G (p.Arg468Gly)	single nucleotide variant	not provided [RCV005067584]	Chr19:48414574 [GRCh38] Chr19:48917831 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1200+6T>C	single nucleotide variant	not provided [RCV005065923]	Chr19:48414111 [GRCh38] Chr19:48917368 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2768C>A (p.Pro923Gln)	single nucleotide variant	not provided [RCV005175799]	Chr19:48442694 [GRCh38] Chr19:48945951 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3977C>T (p.Ser1326Leu)	single nucleotide variant	not provided [RCV005174034]	Chr19:48443903 [GRCh38] Chr19:48947160 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.112G>A (p.Ala38Thr)	single nucleotide variant	not provided [RCV005107191]	Chr19:48398504 [GRCh38] Chr19:48901761 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.428C>G (p.Ala143Gly)	single nucleotide variant	not provided [RCV005107192]	Chr19:48398820 [GRCh38] Chr19:48902077 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.764C>T (p.Pro255Leu)	single nucleotide variant	not provided [RCV005107193]	Chr19:48405032 [GRCh38] Chr19:48908289 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2119C>A (p.Pro707Thr)	single nucleotide variant	not provided [RCV005107194]	Chr19:48421812 [GRCh38] Chr19:48925069 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2679G>A (p.Met893Ile)	single nucleotide variant	not provided [RCV005107195]	Chr19:48442605 [GRCh38] Chr19:48945862 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2685C>G (p.Ser895Arg)	single nucleotide variant	not provided [RCV005107196]	Chr19:48442611 [GRCh38] Chr19:48945868 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2761C>A (p.Pro921Thr)	single nucleotide variant	not provided [RCV005107197]	Chr19:48442687 [GRCh38] Chr19:48945944 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2774C>T (p.Pro925Leu)	single nucleotide variant	not provided [RCV005107198]	Chr19:48442700 [GRCh38] Chr19:48945957 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3130C>T (p.Pro1044Ser)	single nucleotide variant	not provided [RCV005107199]	Chr19:48443056 [GRCh38] Chr19:48946313 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3194A>G (p.Asp1065Gly)	single nucleotide variant	not provided [RCV005107200]	Chr19:48443120 [GRCh38] Chr19:48946377 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3238G>A (p.Gly1080Arg)	single nucleotide variant	not provided [RCV005107201]	Chr19:48443164 [GRCh38] Chr19:48946421 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1234A>G (p.Lys412Glu)	single nucleotide variant	not provided [RCV005106169]	Chr19:48414406 [GRCh38] Chr19:48917663 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3268C>G (p.Pro1090Ala)	single nucleotide variant	not provided [RCV005107202]	Chr19:48443194 [GRCh38] Chr19:48946451 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3526G>T (p.Ala1176Ser)	single nucleotide variant	not provided [RCV005107203]	Chr19:48443452 [GRCh38] Chr19:48946709 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3527C>T (p.Ala1176Val)	single nucleotide variant	not provided [RCV005107204]	Chr19:48443453 [GRCh38] Chr19:48946710 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3784C>T (p.Leu1262Phe)	single nucleotide variant	not provided [RCV005107205]	Chr19:48443710 [GRCh38] Chr19:48946967 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3804C>T (p.Thr1268=)	single nucleotide variant	not provided [RCV005068280]	Chr19:48443730 [GRCh38] Chr19:48946987 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3204C>G (p.Ser1068Arg)	single nucleotide variant	not provided [RCV005146155]	Chr19:48443130 [GRCh38] Chr19:48946387 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1762ATG[1] (p.Met589del)	microsatellite	not provided [RCV005196583]	Chr19:48419258..48419260 [GRCh38] Chr19:48922515..48922517 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_000836.4(GRIN2D):c.221C>T (p.Ala74Val)	single nucleotide variant	not provided [RCV005085135]	Chr19:48398613 [GRCh38] Chr19:48901870 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2252+20G>C	single nucleotide variant	not provided [RCV005084977]	Chr19:48421965 [GRCh38] Chr19:48925222 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3587_3588delinsAA (p.Ser1196Lys)	indel	not provided [RCV005170548]	Chr19:48443513..48443514 [GRCh38] Chr19:48946770..48946771 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2253-3C>T	single nucleotide variant	not provided [RCV005085080]	Chr19:48441766 [GRCh38] Chr19:48945023 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3651G>C (p.Gly1217=)	single nucleotide variant	not provided [RCV005172123]	Chr19:48443577 [GRCh38] Chr19:48946834 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3581A>C (p.His1194Pro)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV005208350]	Chr19:48443507 [GRCh38] Chr19:48946764 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.105G>A (p.Pro35=)	single nucleotide variant	not provided [RCV005171441]	Chr19:48398497 [GRCh38] Chr19:48901754 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1735+18G>C	single nucleotide variant	not provided [RCV005087941]	Chr19:48416173 [GRCh38] Chr19:48919430 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3926C>T (p.Thr1309Ile)	single nucleotide variant	not provided [RCV005145770]	Chr19:48443852 [GRCh38] Chr19:48947109 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3388G>A (p.Glu1130Lys)	single nucleotide variant	not provided [RCV005172617]	Chr19:48443314 [GRCh38] Chr19:48946571 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.991G>A (p.Ala331Thr)	single nucleotide variant	not provided [RCV005171417]	Chr19:48405259 [GRCh38] Chr19:48908516 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.309C>T (p.Leu103=)	single nucleotide variant	not provided [RCV005170917]	Chr19:48398701 [GRCh38] Chr19:48901958 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1974G>A (p.Met658Ile)	single nucleotide variant	not provided [RCV005170988]	Chr19:48419697 [GRCh38] Chr19:48922954 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1539C>T (p.His513=)	single nucleotide variant	not provided [RCV005170650]	Chr19:48414990 [GRCh38] Chr19:48918247 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3673_3714del (p.Arg1225_Ala1238del)	deletion	not provided [RCV005071696]	Chr19:48443593..48443634 [GRCh38] Chr19:48946850..48946891 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2808G>A (p.Glu936=)	single nucleotide variant	not provided [RCV005113716]	Chr19:48442734 [GRCh38] Chr19:48945991 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3734C>G (p.Ala1245Gly)	single nucleotide variant	not provided [RCV005080176]	Chr19:48443660 [GRCh38] Chr19:48946917 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1162G>A (p.Val388Met)	single nucleotide variant	not provided [RCV005152193]	Chr19:48414067 [GRCh38] Chr19:48917324 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.611T>C (p.Ile204Thr)	single nucleotide variant	not provided [RCV005183236]	Chr19:48404879 [GRCh38] Chr19:48908136 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.504C>T (p.Thr168=)	single nucleotide variant	not provided [RCV005077972]	Chr19:48404772 [GRCh38] Chr19:48908029 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1377C>T (p.Ser459=)	single nucleotide variant	not provided [RCV005075965]	Chr19:48414549 [GRCh38] Chr19:48917806 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3318C>T (p.Leu1106=)	single nucleotide variant	not provided [RCV005187177]	Chr19:48443244 [GRCh38] Chr19:48946501 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3420G>A (p.Pro1140=)	single nucleotide variant	not provided [RCV005157720]	Chr19:48443346 [GRCh38] Chr19:48946603 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3910G>C (p.Gly1304Arg)	single nucleotide variant	not provided [RCV005070536]	Chr19:48443836 [GRCh38] Chr19:48947093 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3247G>A (p.Gly1083Arg)	single nucleotide variant	not provided [RCV005158557]	Chr19:48443173 [GRCh38] Chr19:48946430 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.18C>A (p.Gly6=)	single nucleotide variant	not provided [RCV005180030]	Chr19:48398410 [GRCh38] Chr19:48901667 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.324G>C (p.Ser108=)	single nucleotide variant	not provided [RCV005122935]	Chr19:48398716 [GRCh38] Chr19:48901973 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2825G>A (p.Arg942His)	single nucleotide variant	not provided [RCV005150683]	Chr19:48442751 [GRCh38] Chr19:48946008 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1497C>A (p.Ile499=)	single nucleotide variant	not provided [RCV005075191]	Chr19:48414948 [GRCh38] Chr19:48918205 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1086G>A (p.Arg362=)	single nucleotide variant	not provided [RCV005201009]	Chr19:48413991 [GRCh38] Chr19:48917248 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1137C>T (p.Asp379=)	single nucleotide variant	not provided [RCV005160187]	Chr19:48414042 [GRCh38] Chr19:48917299 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3484_3498dup (p.Trp1166_Asp1167insArgAlaGlySerTrp)	duplication	not provided [RCV005083047]	Chr19:48443404..48443405 [GRCh38] Chr19:48946661..48946662 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1412+11G>C	single nucleotide variant	not provided [RCV005071559]	Chr19:48414595 [GRCh38] Chr19:48917852 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1072G>C (p.Glu358Gln)	single nucleotide variant	not provided [RCV005140686]	Chr19:48405340 [GRCh38] Chr19:48908597 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1048G>A (p.Ala350Thr)	single nucleotide variant	not provided [RCV005153893]	Chr19:48405316 [GRCh38] Chr19:48908573 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2091+14C>T	single nucleotide variant	not provided [RCV005134848]	Chr19:48419828 [GRCh38] Chr19:48923085 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.969C>T (p.Gly323=)	single nucleotide variant	not provided [RCV005077590]	Chr19:48405237 [GRCh38] Chr19:48908494 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2048A>G (p.Gln683Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV005247936]	Chr19:48419771 [GRCh38] Chr19:48923028 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2215C>G (p.Pro739Ala)	single nucleotide variant	not provided [RCV005151916]	Chr19:48421908 [GRCh38] Chr19:48925165 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2532C>T (p.Asn844=)	single nucleotide variant	not provided [RCV005125021]	Chr19:48442241 [GRCh38] Chr19:48945498 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1792G>A (p.Ala598Thr)	single nucleotide variant	not provided [RCV005127112]	Chr19:48419290 [GRCh38] Chr19:48922547 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.861C>A (p.Ala287=)	single nucleotide variant	not provided [RCV005135507]	Chr19:48405129 [GRCh38] Chr19:48908386 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3923C>T (p.Pro1308Leu)	single nucleotide variant	not provided [RCV005192476]	Chr19:48443849 [GRCh38] Chr19:48947106 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3823C>T (p.Leu1275Phe)	single nucleotide variant	not provided [RCV005165864]	Chr19:48443749 [GRCh38] Chr19:48947006 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.242G>A (p.Gly81Asp)	single nucleotide variant	not specified [RCV005240157]	Chr19:48398634 [GRCh38] Chr19:48901891 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2441-9C>T	single nucleotide variant	not provided [RCV005179372]	Chr19:48442141 [GRCh38] Chr19:48945398 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2855C>G (p.Pro952Arg)	single nucleotide variant	Inborn genetic diseases [RCV005353392]\|not provided [RCV005075810]	Chr19:48442781 [GRCh38] Chr19:48946038 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3758A>G (p.His1253Arg)	single nucleotide variant	not provided [RCV005168242]	Chr19:48443684 [GRCh38] Chr19:48946941 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2296A>T (p.Met766Leu)	single nucleotide variant	not provided [RCV005153092]	Chr19:48441812 [GRCh38] Chr19:48945069 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2252+1G>A	single nucleotide variant	not provided [RCV005242064]	Chr19:48421946 [GRCh38] Chr19:48925203 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2657T>C (p.Leu886Pro)	single nucleotide variant	not provided [RCV005131694]	Chr19:48442366 [GRCh38] Chr19:48945623 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.351C>T (p.Phe117=)	single nucleotide variant	not provided [RCV005143843]	Chr19:48398743 [GRCh38] Chr19:48902000 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.547G>C (p.Asp183His)	single nucleotide variant	not provided [RCV005168564]	Chr19:48404815 [GRCh38] Chr19:48908072 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.465+4C>A	single nucleotide variant	not provided [RCV005076031]	Chr19:48398861 [GRCh38] Chr19:48902118 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2118G>C (p.Pro706=)	single nucleotide variant	not provided [RCV005121540]	Chr19:48421811 [GRCh38] Chr19:48925068 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2505G>A (p.Val835=)	single nucleotide variant	not provided [RCV005166774]	Chr19:48442214 [GRCh38] Chr19:48945471 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.320T>C (p.Leu107Pro)	single nucleotide variant	not provided [RCV005177928]	Chr19:48398712 [GRCh38] Chr19:48901969 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1139G>A (p.Gly380Asp)	single nucleotide variant	not provided [RCV005169183]	Chr19:48414044 [GRCh38] Chr19:48917301 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1788G>A (p.Val596=)	single nucleotide variant	not provided [RCV005137342]	Chr19:48419286 [GRCh38] Chr19:48922543 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1429C>A (p.Pro477Thr)	single nucleotide variant	not provided [RCV005144820]	Chr19:48414880 [GRCh38] Chr19:48918137 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2905G>C (p.Glu969Gln)	single nucleotide variant	not provided [RCV005242035]	Chr19:48442831 [GRCh38] Chr19:48946088 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3629C>T (p.Pro1210Leu)	single nucleotide variant	not provided [RCV005169389]	Chr19:48443555 [GRCh38] Chr19:48946812 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2761C>G (p.Pro921Ala)	single nucleotide variant	not provided [RCV005169460]	Chr19:48442687 [GRCh38] Chr19:48945944 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2092-19A>G	single nucleotide variant	not provided [RCV005180746]	Chr19:48421766 [GRCh38] Chr19:48925023 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1427C>T (p.Ala476Val)	single nucleotide variant	not provided [RCV005180882]	Chr19:48414878 [GRCh38] Chr19:48918135 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1350T>C (p.Pro450=)	single nucleotide variant	not provided [RCV005183201]	Chr19:48414522 [GRCh38] Chr19:48917779 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1413-14G>A	single nucleotide variant	not provided [RCV005117624]	Chr19:48414850 [GRCh38] Chr19:48918107 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.691G>T (p.Val231Leu)	single nucleotide variant	not provided [RCV005124987]	Chr19:48404959 [GRCh38] Chr19:48908216 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2630T>C (p.Leu877Pro)	single nucleotide variant	not provided [RCV005167871]	Chr19:48442339 [GRCh38] Chr19:48945596 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2137G>A (p.Val713Met)	single nucleotide variant	not provided [RCV005169787]	Chr19:48421830 [GRCh38] Chr19:48925087 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3648C>T (p.Ala1216=)	single nucleotide variant	not provided [RCV005083934]	Chr19:48443574 [GRCh38] Chr19:48946831 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.792C>T (p.Gly264=)	single nucleotide variant	not provided [RCV005166863]	Chr19:48405060 [GRCh38] Chr19:48908317 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.937C>A (p.Arg313=)	single nucleotide variant	not provided [RCV005072596]	Chr19:48405205 [GRCh38] Chr19:48908462 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3015C>G (p.Pro1005=)	single nucleotide variant	not provided [RCV005074444]	Chr19:48442941 [GRCh38] Chr19:48946198 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3680G>T (p.Gly1227Val)	single nucleotide variant	not provided [RCV005188436]	Chr19:48443606 [GRCh38] Chr19:48946863 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2673+20G>A	single nucleotide variant	not provided [RCV005082447]	Chr19:48442402 [GRCh38] Chr19:48945659 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3316C>G (p.Leu1106Val)	single nucleotide variant	not provided [RCV005139859]	Chr19:48443242 [GRCh38] Chr19:48946499 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.948G>A (p.Leu316=)	single nucleotide variant	not provided [RCV005207616]	Chr19:48405216 [GRCh38] Chr19:48908473 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2298G>A (p.Met766Ile)	single nucleotide variant	not provided [RCV005119525]	Chr19:48441814 [GRCh38] Chr19:48945071 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2481C>T (p.Ile827=)	single nucleotide variant	not provided [RCV005208018]	Chr19:48442190 [GRCh38] Chr19:48945447 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3150C>T (p.Phe1050=)	single nucleotide variant	not provided [RCV005161040]	Chr19:48443076 [GRCh38] Chr19:48946333 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3729C>A (p.Pro1243=)	single nucleotide variant	not provided [RCV005079337]	Chr19:48443655 [GRCh38] Chr19:48946912 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.677G>C (p.Gly226Ala)	single nucleotide variant	not provided [RCV005074919]	Chr19:48404945 [GRCh38] Chr19:48908202 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.209G>A (p.Gly70Asp)	single nucleotide variant	not provided [RCV005139134]	Chr19:48398601 [GRCh38] Chr19:48901858 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2082T>A (p.Ser694Arg)	single nucleotide variant	not provided [RCV005126202]	Chr19:48419805 [GRCh38] Chr19:48923062 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_000836.4(GRIN2D):c.367G>T (p.Ala123Ser)	single nucleotide variant	not provided [RCV005153899]	Chr19:48398759 [GRCh38] Chr19:48902016 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2942G>C (p.Arg981Pro)	single nucleotide variant	not provided [RCV005077046]	Chr19:48442868 [GRCh38] Chr19:48946125 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2834G>A (p.Arg945Gln)	single nucleotide variant	not provided [RCV005188982]	Chr19:48442760 [GRCh38] Chr19:48946017 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.465+7_465+8delinsTT	indel	not provided [RCV005193291]	Chr19:48398864..48398865 [GRCh38] Chr19:48902121..48902122 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3365G>T (p.Gly1122Val)	single nucleotide variant	not provided [RCV005161427]	Chr19:48443291 [GRCh38] Chr19:48946548 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1861+11del	deletion	not provided [RCV005166625]	Chr19:48419366 [GRCh38] Chr19:48922623 [GRCh37] Chr19:19q13.33	benign
NM_000836.4(GRIN2D):c.873C>G (p.Pro291=)	single nucleotide variant	not provided [RCV005185437]	Chr19:48405141 [GRCh38] Chr19:48908398 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.69C>T (p.Ala23=)	single nucleotide variant	not provided [RCV005183031]	Chr19:48398461 [GRCh38] Chr19:48901718 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3385C>G (p.Leu1129Val)	single nucleotide variant	not provided [RCV005081492]	Chr19:48443311 [GRCh38] Chr19:48946568 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3698del (p.Pro1233fs)	deletion	not provided [RCV005121594]	Chr19:48443622 [GRCh38] Chr19:48946879 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2385G>A (p.Lys795=)	single nucleotide variant	not provided [RCV005153791]	Chr19:48441901 [GRCh38] Chr19:48945158 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1161G>C (p.Leu387=)	single nucleotide variant	not provided [RCV005068764]	Chr19:48414066 [GRCh38] Chr19:48917323 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3217G>A (p.Gly1073Arg)	single nucleotide variant	not provided [RCV005070535]	Chr19:48443143 [GRCh38] Chr19:48946400 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3325G>A (p.Glu1109Lys)	single nucleotide variant	not provided [RCV005156095]	Chr19:48443251 [GRCh38] Chr19:48946508 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.174G>C (p.Ser58=)	single nucleotide variant	not provided [RCV005073333]	Chr19:48398566 [GRCh38] Chr19:48901823 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2791C>A (p.Pro931Thr)	single nucleotide variant	not provided [RCV005151774]	Chr19:48442717 [GRCh38] Chr19:48945974 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1558G>T (p.Val520Phe)	single nucleotide variant	not provided [RCV005184958]	Chr19:48415009 [GRCh38] Chr19:48918266 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.345G>C (p.Val115=)	single nucleotide variant	not provided [RCV005069330]	Chr19:48398737 [GRCh38] Chr19:48901994 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.490C>T (p.Leu164=)	single nucleotide variant	not provided [RCV005123591]	Chr19:48404758 [GRCh38] Chr19:48908015 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2220C>T (p.Arg740=)	single nucleotide variant	not provided [RCV005201140]	Chr19:48421913 [GRCh38] Chr19:48925170 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.699T>C (p.Ser233=)	single nucleotide variant	not provided [RCV005200041]	Chr19:48404967 [GRCh38] Chr19:48908224 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.628G>T (p.Gly210Cys)	single nucleotide variant	not provided [RCV005073614]	Chr19:48404896 [GRCh38] Chr19:48908153 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.82T>C (p.Phe28Leu)	single nucleotide variant	not provided [RCV005110536]	Chr19:48398474 [GRCh38] Chr19:48901731 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.597C>T (p.Ala199=)	single nucleotide variant	not provided [RCV005155537]	Chr19:48404865 [GRCh38] Chr19:48908122 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.1463G>C (p.Cys488Ser)	single nucleotide variant	not provided [RCV005112932]	Chr19:48414914 [GRCh38] Chr19:48918171 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1452C>A (p.Cys484Ter)	single nucleotide variant	not provided [RCV005205868]	Chr19:48414903 [GRCh38] Chr19:48918160 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1106G>C (p.Trp369Ser)	single nucleotide variant	not provided [RCV005127984]	Chr19:48414011 [GRCh38] Chr19:48917268 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1290G>A (p.Gln430=)	single nucleotide variant	not provided [RCV005199426]	Chr19:48414462 [GRCh38] Chr19:48917719 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.834G>A (p.Gln278=)	single nucleotide variant	not provided [RCV005149191]	Chr19:48405102 [GRCh38] Chr19:48908359 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3348G>A (p.Glu1116=)	single nucleotide variant	not provided [RCV005152498]	Chr19:48443274 [GRCh38] Chr19:48946531 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2278G>A (p.Ala760Thr)	single nucleotide variant	not provided [RCV005256425]	Chr19:48441794 [GRCh38] Chr19:48945051 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1229G>A (p.Arg410His)	single nucleotide variant	not provided [RCV005367922]	Chr19:48414401 [GRCh38] Chr19:48917658 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.505G>C (p.Glu169Gln)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV005400654]	Chr19:48404773 [GRCh38] Chr19:48908030 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.871C>T (p.Pro291Ser)	single nucleotide variant	Inborn genetic diseases [RCV005353824]	Chr19:48405139 [GRCh38] Chr19:48908396 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3106G>A (p.Ala1036Thr)	single nucleotide variant	not provided [RCV005256411]	Chr19:48443032 [GRCh38] Chr19:48946289 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3244A>C (p.Thr1082Pro)	single nucleotide variant	Inborn genetic diseases [RCV005353822]	Chr19:48443170 [GRCh38] Chr19:48946427 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.969C>A (p.Gly323=)	single nucleotide variant	not provided [RCV005426863]	Chr19:48405237 [GRCh38] Chr19:48908494 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.2530A>C (p.Asn844His)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV005417542]	Chr19:48442239 [GRCh38] Chr19:48945496 [GRCh37] Chr19:19q13.33	likely pathogenic
NM_000836.4(GRIN2D):c.1862G>T (p.Arg621Leu)	single nucleotide variant	not provided [RCV005415117]	Chr19:48419585 [GRCh38] Chr19:48922842 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.458C>G (p.Thr153Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV005413314]	Chr19:48398850 [GRCh38] Chr19:48902107 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2793T>C (p.Pro931=)	single nucleotide variant	not specified [RCV005418440]	Chr19:48442719 [GRCh38] Chr19:48945976 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3841G>A (p.Ala1281Thr)	single nucleotide variant	not provided [RCV005414902]	Chr19:48443767 [GRCh38] Chr19:48947024 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3360C>G (p.Ser1120Arg)	single nucleotide variant	Inborn genetic diseases [RCV004395895]	Chr19:48443286 [GRCh38] Chr19:48946543 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.274A>G (p.Asn92Asp)	single nucleotide variant	not provided [RCV002300057]	Chr19:48398666 [GRCh38] Chr19:48901923 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.99G>C (p.Pro33=)	single nucleotide variant	GRIN2D-related disorder [RCV004750780]\|not provided [RCV002876789]	Chr19:48398491 [GRCh38] Chr19:48901748 [GRCh37] Chr19:19q13.33	likely benign
NM_000836.4(GRIN2D):c.3025G>T (p.Ala1009Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003135475]	Chr19:48442951 [GRCh38] Chr19:48946208 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2777C>T (p.Ala926Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003135477]	Chr19:48442703 [GRCh38] Chr19:48945960 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2869C>A (p.Leu957Met)	single nucleotide variant	not provided [RCV003329910]	Chr19:48442795 [GRCh38] Chr19:48946052 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3242G>A (p.Gly1081Asp)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003337872]\|not provided [RCV003730529]	Chr19:48443168 [GRCh38] Chr19:48946425 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.4C>A (p.Arg2Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003340845]\|not provided [RCV003708774]	Chr19:48398396 [GRCh38] Chr19:48901653 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2462G>A (p.Arg821Gln)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003333837]	Chr19:48442171 [GRCh38] Chr19:48945428 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.763C>G (p.Pro255Ala)	single nucleotide variant	Developmental and epileptic encephalopathy, 46 [RCV003336646]	Chr19:48405031 [GRCh38] Chr19:48908288 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2392C>G (p.Arg798Gly)	single nucleotide variant	not specified [RCV003332061]	Chr19:48441908 [GRCh38] Chr19:48945165 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.3683G>T (p.Cys1228Phe)	single nucleotide variant	not provided [RCV003555756]	Chr19:48443609 [GRCh38] Chr19:48946866 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.1147G>C (p.Val383Leu)	single nucleotide variant	Inborn genetic diseases [RCV004395889]	Chr19:48414052 [GRCh38] Chr19:48917309 [GRCh37] Chr19:19q13.33	uncertain significance
NM_000836.4(GRIN2D):c.2831G>C (p.Arg944Pro)	single nucleotide variant	Inborn genetic diseases [RCV004395891]\|not provided [RCV004719406]	Chr19:48442757 [GRCh38] Chr19:48946014 [GRCh37] Chr19:19q13.33	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	510
Count of miRNA genes:	381
Interacting mature miRNAs:	397
Transcripts:	ENST00000263269
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1559110	SCL22_H	Serum cholesterol level QTL 22 (human)	3.59	0.000241	Lipid level	LDL cholesterol	19	31907594	57907594	Human
597109094	GWAS1205168_H	mathematical ability QTL GWAS1205168 (human)		3e-09	cognitive behavior trait (VT:0010450)		19	48401432	48401433	Human
597335944	GWAS1432018_H	COVID-19 QTL GWAS1432018 (human)		0.0000009	COVID-19		19	48414900	48414901	Human
597336008	GWAS1432082_H	COVID-19 QTL GWAS1432082 (human)		0.000002	COVID-19		19	48414900	48414901	Human
597335641	GWAS1431715_H	COVID-19 QTL GWAS1431715 (human)		0.000007	COVID-19		19	48414900	48414901	Human
597335522	GWAS1431596_H	COVID-19, mortality QTL GWAS1431596 (human)		0.000001	life span trait (VT:0005372)	ratio of deaths to total study population during a period of time (CMO:0001023)	19	48414900	48414901	Human
597335347	GWAS1431421_H	COVID-19, mortality QTL GWAS1431421 (human)		0.000005	life span trait (VT:0005372)	ratio of deaths to total study population during a period of time (CMO:0001023)	19	48414900	48414901	Human
597075055	GWAS1171129_H	endometriosis QTL GWAS1171129 (human)		0.0000006	uterus integrity trait (VT:0010575)		19	48427965	48427966	Human
597335734	GWAS1431808_H	COVID-19 QTL GWAS1431808 (human)		0.0000008	COVID-19		19	48414900	48414901	Human
1331657	COPD9_H	Chronic obstructive pulmonary disease QTL 9 (human)	1.94		Chronic airflow obstruction	post-bronchodilator FEV1	19	31021760	57021760	Human
597335524	GWAS1431598_H	COVID-19, mortality QTL GWAS1431598 (human)		0.000003	life span trait (VT:0005372)	ratio of deaths to total study population during a period of time (CMO:0001023)	19	48414900	48414901	Human

Markers in Region

RH92449

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	48,948,047 - 48,948,188	UniSTS	GRCh37
Build 36	19	53,639,859 - 53,640,000	RGD	NCBI36
Celera	19	45,813,292 - 45,813,433	RGD
Cytogenetic Map	19	q13.33	UniSTS
HuRef	19	45,328,245 - 45,328,386	UniSTS
GeneMap99-GB4 RH Map	19	265.99	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2428	2774	2237	4940	1703	2325	4	605	1876	447	2268	7147	6382	50	3705	818	1729	1609	170

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_052829	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000836	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011526872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB007621	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB209292	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC008403	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC011527	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW139866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471177	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U77783	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000263269 ⟹ ENSP00000263269

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	48,393,668 - 48,444,931 (+)	Ensembl

RefSeq Acc Id:

NM_000836 ⟹ NP_000827

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	48,393,668 - 48,444,931 (+)	NCBI
GRCh37	19	48,898,132 - 48,948,188 (+)	ENTREZGENE
Build 36	19	53,589,944 - 53,640,000 (+)	NCBI Archive
HuRef	19	45,278,762 - 45,328,386 (+)	ENTREZGENE
CHM1_1	19	48,900,198 - 48,950,044 (+)	NCBI
T2T-CHM13v2.0	19	51,387,832 - 51,439,100 (+)	NCBI

Sequence:

show sequence

ATCCCGAGTGAGTGTGTGTGTGCGAGAACACAGCGAGTGTGTGAGTCCCTCCCGCTCCAGCTCC
TCCAAGCCGCGGCCGCCGCCGCCACCCTCGCCCGCAGCCTCCCGCAGCCTCCCTCGGCCACCGG
TGCCTGCTGGGGGTGTTGCCTGGGTAGGTCGGCCCGGCCCCCAGGGGTCTCTCGAGCGTCTGCC
ATCTGCCCGAGCAACATGTGTAGCCACGTCCTCGCCTAGTCCAGGTGGCCGCAACCTTGGGGGA
GAGACAGGGCAGGACAGGACCAAGGAAGAGGAAGGAGAGACGGAGCCAGGGACAGACAGGAGGT
CCGGGCTGCCGCTGCTGCCGCCACCACCACTGCCGCCGCCCCGGGGCCTGCCCCCCGACATCGG
CTCTCTGAGCCCTCCTCGGAATCTTGGGGTCGCTGGACGCCGGGTTCCGGTCCTGGCCCCCCCG
CCATCCCCCCAACAGAACAGGGTCATGAAAAGAGGCCGCCCGGCGGGGCCCGCAGGCGATGCGC
GGCGCCGGTGGCCCCCGCGGCCCTCGGGGCCCCGCTAAGATGCTGCTGCTGCTGGCGCTGGCCT
GCGCCAGCCCGTTCCCGGAGGAGGCGCCGGGGCCGGGCGGGGCCGGTGGGCCCGGCGGCGGCCT
CGGCGGGGCGCGGCCGCTCAACGTGGCGCTCGTGTTCTCGGGGCCCGCGTACGCGGCCGAGGCG
GCACGCCTGGGCCCGGCCGTGGCGGCGGCGGTGCGCAGCCCGGGCCTAGACGTGCGGCCCGTGG
CGCTGGTGCTCAACGGCTCGGACCCGCGCAGCCTCGTGCTGCAGCTCTGCGACCTGCTGTCGGG
GTTGCGCGTGCACGGCGTGGTCTTCGAAGACGACTCGCGCGCGCCCGCCGTCGCGCCCATCCTC
GACTTCCTGTCGGCGCAGACCTCGCTGCCCATCGTGGCCGTGCACGGCGGCGCCGCGCTCGTGC
TCACGCCCAAGGAGAAGGGCTCCACCTTCCTGCAGCTGGGCTCTTCCACCGAGCAACAGCTTCA
GGTCATCTTTGAGGTGCTGGAGGAGTATGACTGGACGTCCTTTGTAGCCGTGACCACTCGTGCC
CCTGGCCACCGGGCCTTCCTGTCCTACATTGAGGTGCTGACTGACGGTAGTCTGGTGGGCTGGG
AGCACCGCGGAGCGCTGACGCTGGACCCTGGGGCGGGCGAGGCCGTGCTCAGTGCCCAGCTCCG
CAGTGTCAGCGCGCAGATCCGCCTGCTCTTCTGCGCCCGAGAGGAGGCCGAGCCCGTGTTCCGC
GCAGCTGAGGAGGCTGGCCTCACTGGATCTGGCTACGTCTGGTTCATGGTGGGGCCCCAGCTGG
CTGGAGGCGGGGGCTCTGGGGCCCCTGGTGAGCCCCCTCTTCTGCCAGGAGGCGCCCCCCTGCC
TGCCGGGCTGTTTGCAGTGCGCTCGGCTGGCTGGCGGGATGACCTGGCTCGGCGAGTGGCAGCT
GGCGTGGCCGTAGTGGCCAGAGGTGCCCAGGCCCTGCTGCGTGATTATGGTTTCCTTCCTGAGC
TCGGCCACGACTGTCGCGCCCAGAACCGCACCCACCGCGGCGAGAGTCTGCATAGGTACTTCAT
GAACATCACGTGGGATAACCGGGATTACTCCTTCAATGAGGACGGCTTCCTAGTGAACCCCTCC
CTGGTGGTCATCTCCCTCACCAGAGACAGGACGTGGGAGGTGGTGGGCAGCTGGGAGCAGCAGA
CGCTCCGCCTCAAGTACCCGCTGTGGTCCCGCTATGGTCGCTTCCTGCAGCCAGTGGACGACAC
GCAGCACCTCACGGTGGCCACGCTGGAGGAAAGGCCGTTTGTCATCGTGGAGCCTGCAGACCCT
ATCAGCGGCACCTGCATCCGAGACTCCGTCCCCTGCCGGAGCCAGCTCAACCGAACCCACAGCC
CTCCACCGGATGCCCCCCGCCCGGAAAAGCGCTGCTGCAAGGGTTTCTGCATCGACATTCTGAA
GCGGCTGGCGCATACCATCGGCTTCAGCTACGACCTCTACCTGGTCACCAATGGCAAGCACGGA
AAGAAGATCGATGGCGTCTGGAACGGCATGATCGGGGAGGTGTTCTACCAGCGCGCAGACATGG
CCATCGGCTCCCTCACCATCAACGAGGAGCGCTCCGAGATCGTGGACTTCTCCGTCCCCTTCGT
GGAGACCGGCATCAGCGTCATGGTGGCGCGCAGCAATGGCACGGTGTCCCCCTCGGCCTTCCTC
GAGCCCTACAGCCCCGCCGTGTGGGTGATGATGTTCGTCATGTGCCTCACTGTGGTCGCCGTCA
CTGTTTTCATCTTCGAGTACCTCAGTCCTGTTGGTTACAACCGCAGCCTGGCCACGGGCAAGCG
CCCTGGCGGTTCAACCTTCACCATTGGGAAATCCATCTGGCTGCTCTGGGCCCTGGTGTTCAAT
AATTCGGTGCCCGTGGAGAACCCCCGGGGAACCACCAGCAAAATCATGGTGCTGGTGTGGGCCT
TCTTCGCCGTCATCTTCCTCGCCAGCTACACAGCCAACCTGGCCGCCTTCATGATCCAGGAGGA
GTACGTGGATACTGTGTCTGGGCTCAGTGACCGCAAGTTCCAGAGGCCCCAGGAGCAGTACCCG
CCCCTGAAGTTTGGGACCGTGCCCAACGGCTCCACGGAGAAGAACATCCGCAGCAACTATCCCG
ACATGCACAGCTACATGGTGCGCTACAACCAGCCCCGCGTAGAGGAAGCGCTCACTCAGCTCAA
GGCAGGGAAGCTGGACGCCTTCATCTACGATGCTGCAGTGCTCAATTACATGGCCCGCAAGGAC
GAGGGCTGCAAGCTTGTCACCATCGGCTCCGGCAAGGTCTTCGCCACGACAGGCTATGGCATCG
CCCTGCACAAGGGCTCCCGCTGGAAGCGGCCCATCGACCTGGCGTTGCTGCAGTTCCTGGGGGA
TGATGAGATCGAGATGCTGGAGCGGCTGTGGCTCTCTGGGATCTGCCACAATGACAAAATCGAG
GTGATGAGCAGCAAGCTGGACATCGACAACATGGCGGGCGTCTTCTACATGCTCCTGGTGGCCA
TGGGCCTGTCCCTGCTGGTCTTCGCCTGGGAGCACCTGGTGTACTGGCGCCTGCGGCACTGCCT
GGGGCCCACCCACCGCATGGACTTCCTGCTGGCCTTCTCCAGGGGCATGTACAGCTGCTGCAGC
GCTGAGGCCGCCCCACCGCCCGCCAAGCCCCCGCCGCCGCCACAGCCCCTGCCCAGCCCCGCGT
ACCCCGCGCCGCGGCCGGCTCCCGGGCCCGCACCTTTCGTGCCCCGCGAGCGCGCCTCAGTGGA
CCGCTGGCGCCGGACCAAGGGCGCGGGGCCGCCGGGGGGCGCGGGCCTGGCCGACGGCTTCCAC
CGCTACTACGGCCCCATCGAGCCGCAGGGCCTAGGCCTCGGCCTGGGCGAAGCGCGCGCGGCAC
CGCGGGGCGCAGCCGGGCGCCCGCTGTCCCCGCCGGCCGCTCAGCCCCCGCAGAAGCCGCCGCC
CTCCTATTTCGCCATCGTACGCGACAAGGAGCCAGCCGAGCCCCCCGCCGGCGCCTTCCCCGGC
TTCCCGTCGCCGCCCGCGCCCCCCGCCGCCGCGGCCACCGCCGTCGGGCCGCCACTCTGCCGCT
TGGCCTTCGAGGACGAGAGCCCGCCGGCGCCCGCGCGGTGGCCGCGCTCGGACCCCGAGAGCCA
ACCCCTGCTGGGGCCAGGCGCGGGCGGCGCGGGGGGCACGGGGGGCGCAGGCGGAGGAGCCCCG
GCCGCTCCGCCCCCGTGCCGCGCCGCGCCGCCCCCGTGCCCTTACCTCGATCTCGAGCCGTCGC
CGTCGGACTCGGAGGACTCGGAGAGCCTGGGCGGCGCGTCGCTGGGCGGCCTGGAGCCCTGGTG
GTTCGCCGACTTCCCTTACCCGTATGCCGAGCGCCTCGGGCCGCCGCCCGGCCGCTACTGGTCG
GTCGACAAGCTCGGGGGCTGGCGCGCCGGGAGCTGGGACTACCTGCCCCCGCGCAGCGGTCCGG
CCGCCTGGCACTGTCGGCACTGCGCCAGCCTGGAGCTGCTGCCGCCGCCGCGCCATCTCAGCTG
CTCGCACGATGGCCTGGACGGCGGCTGGTGGGCGCCACCGCCTCCACCCTGGGCCGCCGGGCCC
CTGCCCCGACGCCGGGCCCGCTGCGGGTGCCCGCGGTCGCACCCGCACCGCCCGCGGGCCTCGC
ACCGCACGCCCGCCGCCGCCGCGCCCCACCACCACAGGCACCGGCGCGCCGCTGGGGGCTGGGA
CCTCCCGCCGCCCGCGCCCACCTCGCGCTCGCTCGAGGACCTCAGCTCGTGCCCTCGCGCCGCC
CCTGCGCGCAGGCTTACCGGGCCCTCCCGCCACGCTCGCAGGTGTCCGCACGCCGCGCACTGGG
GGCCGCCGCTGCCCACAGCTTCCCACCGGAGACACCGGGGCGGGGACCTGGGCACCCGCAGGGG
CTCGGCGCACTTCTCTAGCCTCGAGTCCGAGGTATGACGCGGCCCCGGGGGCCCCACCGCCCCC
TTGGTCAGCGCAGGCCACGGCCCGAGGGGGCGCCCGCAGTGGACAGGACCCGCGTGGGTTGGGA
AGGAAAGCAGTGGAACTGGCCGGACCCCGCCTGGAGCAGCGTCCTGCGCCCCCTGGTTCTGGAG
GAACCGCAAGCCGGAGAGGATTTGGTCCCTCAACTATCACCCAGCCTGAGAACGAGGGGGCGGG
GGCCTTGGAGCCCACCGGACTTTTTTTTAAACCCGACAAGGGCTTTTTAACGTCACCAGATGGG
GCGGGAGGTGGGGGGTTCACGCCACTCCCGCGTCCCACCTCCACGCCCGGGGCCGTGGCCCCCA
CATCACTGTGCAGCTCCCCGGCCCCAGCCGCGCCTCCGGGGAAGCCCGTTTTTAACCTTTCATC
CATTGGGACTCAAAACTGTGAGACGCGTTCGCCAAACTGTGACCCCAGACCTTGGCCCCGCCAC
ACAGAAACCCCTGACCCAGACTGTGACATCCGACTCCTAAAATGGTCATCCGACTCCAGACTGT
GACCCCTGACCCCAAACTGTGACCCGAACCCCAGACTGTGCCCCGACCAGACTGTGACCCTTGA
CATCAAACCGTGACACCCCCTCCTCCTCTTCCACCCTCGGTCGCTTTTCCCTACTCTGACCTAG
GACACGTCCCCAACGGAAGCCCCGCCTTCCCTTGCACCGCGATGAACCCAACCTCCCTGAAGCC
AAAACTTCCCACCCTGCCGCACCTCCGGACCACCCCACTTGCCACCAAGCACATCCTCTCCAAA
TCCAACCCTTATTTGCGACCCTTCAGTGATGACCCAGCAGACCTCCAAAAAGCCTCCTCTGCCC
AGATCTCCAGCCGGGTCTGGGGCTGGGTTGCGGAGGGGAGGGTCTGGGAGTCCACACTTCTCCA
CCAACTTCCCTTCCCACTCTCTTATTCCACATTGCAGTGTTTGGAATAAACCATGTTTTTATGC
CTCCTCA

hide sequence

RefSeq Acc Id:

XM_011526872 ⟹ XP_011525174

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	48,397,670 - 48,444,931 (+)	NCBI

Sequence:

show sequence

CTCTCCTCCATTTCTCTCTCCCTCTGTCTCTCTCCCTTCCATCTCTCTCGTCCTCCGTTCCTGT
CTCTCCCTCTGTTCCATCACCCCGACCGCTCCCTGTCCTCCCCATCTCGGCGCCTGTCCCTCGC
TGCATCTCCTCCTCTGTGCGTCTCTTTATCTCGTCTCCCTGTCCCTGCGTCTCCCGTCTGTGCC
TCCCTCTCCTCCCCGTCTCTCCCGGCCCGGGCGCTCAGAGGCCGCCCGGCGGGGCCCGCAGGCG
ATGCGCGGCGCCGGTGGCCCCCGCGGCCCTCGGGGCCCCGCTAAGATGCTGCTGCTGCTGGCGC
TGGCCTGCGCCAGCCCGTTCCCGGAGGAGGCGCCGGGGCCGGGCGGGGCCGGTGGGCCCGGCGG
CGGCCTCGGCGGGGCGCGGCCGCTCAACGTGGCGCTCGTGTTCTCGGGGCCCGCGTACGCGGCC
GAGGCGGCACGCCTGGGCCCGGCCGTGGCGGCGGCGGTGCGCAGCCCGGGCCTAGACGTGCGGC
CCGTGGCGCTGGTGCTCAACGGCTCGGACCCGCGCAGCCTCGTGCTGCAGCTCTGCGACCTGCT
GTCGGGGTTGCGCGTGCACGGCGTGGTCTTCGAAGACGACTCGCGCGCGCCCGCCGTCGCGCCC
ATCCTCGACTTCCTGTCGGCGCAGACCTCGCTGCCCATCGTGGCCGTGCACGGCGGCGCCGCGC
TCGTGCTCACGCCCAAGGAGAAGGGCTCCACCTTCCTGCAGCTGGGCTCTTCCACCGAGCAACA
GCTTCAGGTCATCTTTGAGGTGCTGGAGGAGTATGACTGGACGTCCTTTGTAGCCGTGACCACT
CGTGCCCCTGGCCACCGGGCCTTCCTGTCCTACATTGAGGTGCTGACTGACGGTAGTCTGGTGG
GCTGGGAGCACCGCGGAGCGCTGACGCTGGACCCTGGGGCGGGCGAGGCCGTGCTCAGTGCCCA
GCTCCGCAGTGTCAGCGCGCAGATCCGCCTGCTCTTCTGCGCCCGAGAGGAGGCCGAGCCCGTG
TTCCGCGCAGCTGAGGAGGCTGGCCTCACTGGATCTGGCTACGTCTGGTTCATGGTGGGGCCCC
AGCTGGCTGGAGGCGGGGGCTCTGGGGCCCCTGGTGAGCCCCCTCTTCTGCCAGGAGGCGCCCC
CCTGCCTGCCGGGCTGTTTGCAGTGCGCTCGGCTGGCTGGCGGGATGACCTGGCTCGGCGAGTG
GCAGCTGGCGTGGCCGTAGTGGCCAGAGGTGCCCAGGCCCTGCTGCGTGATTATGGTTTCCTTC
CTGAGCTCGGCCACGACTGTCGCGCCCAGAACCGCACCCACCGCGGCGAGAGTCTGCATAGGTA
CTTCATGAACATCACGTGGGATAACCGGGATTACTCCTTCAATGAGGACGGCTTCCTAGTGAAC
CCCTCCCTGGTGGTCATCTCCCTCACCAGAGACAGGACGTGGGAGGTGGTGGGCAGCTGGGAGC
AGCAGACGCTCCGCCTCAAGTACCCGCTGTGGTCCCGCTATGGTCGCTTCCTGCAGCCAGTGGA
CGACACGCAGCACCTCACGGTGGCCACGCTGGAGGAAAGGCCGTTTGTCATCGTGGAGCCTGCA
GACCCTATCAGCGGCACCTGCATCCGAGACTCCGTCCCCTGCCGGAGCCAGCTCAACCGAACCC
ACAGCCCTCCACCGGATGCCCCCCGCCCGGAAAAGCGCTGCTGCAAGGGTTTCTGCATCGACAT
TCTGAAGCGGCTGGCGCATACCATCGGCTTCAGCTACGACCTCTACCTGGTCACCAATGGCAAG
CACGGAAAGAAGATCGATGGCGTCTGGAACGGCATGATCGGGGAGGTGTTCTACCAGCGCGCAG
ACATGGCCATCGGCTCCCTCACCATCAACGAGGAGCGCTCCGAGATCGTGGACTTCTCCGTCCC
CTTCGTGGAGACCGGCATCAGCGTCATGGTGGCGCGCAGCAATGGCACGGTGTCCCCCTCGGCC
TTCCTCGAGCCCTACAGCCCCGCCGTGTGGGTGATGATGTTCGTCATGTGCCTCACTGTGGTCG
CCGTCACTGTTTTCATCTTCGAGTACCTCAGTCCTGTTGGTTACAACCGCAGCCTGGCCACGGG
CAAGCGCCCTGGCGGTTCAACCTTCACCATTGGGAAATCCATCTGGCTGCTCTGGGCCCTGGTG
TTCAATAATTCGGTGCCCGTGGAGAACCCCCGGGGAACCACCAGCAAAATCATGGTGCTGGTGT
GGGCCTTCTTCGCCGTCATCTTCCTCGCCAGCTACACAGCCAACCTGGCCGCCTTCATGATCCA
GGAGGAGTACGTGGATACTGTGTCTGGGCTCAGTGACCGCAAGTTCCAGAGGCCCCAGGAGCAG
TACCCGCCCCTGAAGTTTGGGACCGTGCCCAACGGCTCCACGGAGAAGAACATCCGCAGCAACT
ATCCCGACATGCACAGCTACATGGTGCGCTACAACCAGCCCCGCGTAGAGGAAGCGCTCACTCA
GCTCAAGGCAGGGAAGCTGGACGCCTTCATCTACGATGCTGCAGTGCTCAATTACATGGCCCGC
AAGGACGAGGGCTGCAAGCTTGTCACCATCGGCTCCGGCAAGGTCTTCGCCACGACAGGCTATG
GCATCGCCCTGCACAAGGGCTCCCGCTGGAAGCGGCCCATCGACCTGGCGTTGCTGCAGTTCCT
GGGGGATGATGAGATCGAGATGCTGGAGCGGCTGTGGCTCTCTGGGATCTGCCACAATGACAAA
ATCGAGGTGATGAGCAGCAAGCTGGACATCGACAACATGGCGGGCGTCTTCTACATGCTCCTGG
TGGCCATGGGCCTGTCCCTGCTGGTCTTCGCCTGGGAGCACCTGGTGTACTGGCGCCTGCGGCA
CTGCCTGGGGCCCACCCACCGCATGGACTTCCTGCTGGCCTTCTCCAGGGGCATGTACAGCTGC
TGCAGCGCTGAGGCCGCCCCACCGCCCGCCAAGCCCCCGCCGCCGCCACAGCCCCTGCCCAGCC
CCGCGTACCCCGCGCCGCGGCCGGCTCCCGGGCCCGCACCTTTCGTGCCCCGCGAGCGCGCCTC
AGTGGACCGCTGGCGCCGGACCAAGGGCGCGGGGCCGCCGGGGGGCGCGGGCCTGGCCGACGGC
TTCCACCGCTACTACGGCCCCATCGAGCCGCAGGGCCTAGGCCTCGGCCTGGGCGAAGCGCGCG
CGGCACCGCGGGGCGCAGCCGGGCGCCCGCTGTCCCCGCCGGCCGCTCAGCCCCCGCAGAAGCC
GCCGCCCTCCTATTTCGCCATCGTACGCGACAAGGAGCCAGCCGAGCCCCCCGCCGGCGCCTTC
CCCGGCTTCCCGTCGCCGCCCGCGCCCCCCGCCGCCGCGGCCACCGCCGTCGGGCCGCCACTCT
GCCGCTTGGCCTTCGAGGACGAGAGCCCGCCGGCGCCCGCGCGGTGGCCGCGCTCGGACCCCGA
GAGCCAACCCCTGCTGGGGCCAGGCGCGGGCGGCGCGGGGGGCACGGGGGGCGCAGGCGGAGGA
GCCCCGGCCGCTCCGCCCCCGTGCCGCGCCGCGCCGCCCCCGTGCCCTTACCTCGATCTCGAGC
CGTCGCCGTCGGACTCGGAGGACTCGGAGAGCCTGGGCGGCGCGTCGCTGGGCGGCCTGGAGCC
CTGGTGGTTCGCCGACTTCCCTTACCCGTATGCCGAGCGCCTCGGGCCGCCGCCCGGCCGCTAC
TGGTCGGTCGACAAGCTCGGGGGCTGGCGCGCCGGGAGCTGGGACTACCTGCCCCCGCGCAGCG
GTCCGGCCGCCTGGCACTGTCGGCACTGCGCCAGCCTGGAGCTGCTGCCGCCGCCGCGCCATCT
CAGCTGCTCGCACGATGGCCTGGACGGCGGCTGGTGGGCGCCACCGCCTCCACCCTGGGCCGCC
GGGCCCCTGCCCCGACGCCGGGCCCGCTGCGGGTGCCCGCGGTCGCACCCGCACCGCCCGCGGG
CCTCGCACCGCACGCCCGCCGCCGCCGCGCCCCACCACCACAGGCACCGGCGCGCCGCTGGGGG
CTGGGACCTCCCGCCGCCCGCGCCCACCTCGCGCTCGCTCGAGGACCTCAGCTCGTGCCCTCGC
GCCGCCCCTGCGCGCAGGCTTACCGGGCCCTCCCGCCACGCTCGCAGGTGTCCGCACGCCGCGC
ACTGGGGGCCGCCGCTGCCCACAGCTTCCCACCGGAGACACCGGGGCGGGGACCTGGGCACCCG
CAGGGGCTCGGCGCACTTCTCTAGCCTCGAGTCCGAGGTATGACGCGGCCCCGGGGGCCCCACC
GCCCCCTTGGTCAGCGCAGGCCACGGCCCGAGGGGGCGCCCGCAGTGGACAGGACCCGCGTGGG
TTGGGAAGGAAAGCAGTGGAACTGGCCGGACCCCGCCTGGAGCAGCGTCCTGCGCCCCCTGGTT
CTGGAGGAACCGCAAGCCGGAGAGGATTTGGTCCCTCAACTATCACCCAGCCTGAGAACGAGGG
GGCGGGGGCCTTGGAGCCCACCGGACTTTTTTTTAAACCCGACAAGGGCTTTTTAACGTCACCA
GATGGGGCGGGAGGTGGGGGGTTCACGCCACTCCCGCGTCCCACCTCCACGCCCGGGGCCGTGG
CCCCCACATCACTGTGCAGCTCCCCGGCCCCAGCCGCGCCTCCGGGGAAGCCCGTTTTTAACCT
TTCATCCATTGGGACTCAAAACTGTGAGACGCGTTCGCCAAACTGTGACCCCAGACCTTGGCCC
CGCCACACAGAAACCCCTGACCCAGACTGTGACATCCGACTCCTAAAATGGTCATCCGACTCCA
GACTGTGACCCCTGACCCCAAACTGTGACCCGAACCCCAGACTGTGCCCCGACCAGACTGTGAC
CCTTGACATCAAACCGTGACACCCCCTCCTCCTCTTCCACCCTCGGTCGCTTTTCCCTACTCTG
ACCTAGGACACGTCCCCAACGGAAGCCCCGCCTTCCCTTGCACCGCGATGAACCCAACCTCCCT
GAAGCCAAAACTTCCCACCCTGCCGCACCTCCGGACCACCCCACTTGCCACCAAGCACATCCTC
TCCAAATCCAACCCTTATTTGCGACCCTTCAGTGATGACCCAGCAGACCTCCAAAAAGCCTCCT
CTGCCCAGATCTCCAGCCGGGTCTGGGGCTGGGTTGCGGAGGGGAGGGTCTGGGAGTCCACACT
TCTCCACCAACTTCCCTTCCCACTCTCTTATTCCACATTGCAGTGTTTGGAATAAACCATGTTT
TTATGCCTCCTCAGTCCAA

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Protein Sequences


Protein RefSeqs	NP_000827	(Get FASTA)	NCBI Sequence Viewer
	XP_011525174	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC15910	(Get FASTA)	NCBI Sequence Viewer
	BAD92529	(Get FASTA)	NCBI Sequence Viewer
	EAW52346	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000263269
	ENSP00000263269.2
GenBank Protein	O15399	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_000827 ⟸ NM_000836
- Peptide Label:	precursor
- UniProtKB:	O15399 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRGAGGPRGPRGPAKMLLLLALACASPFPEEAPGPGGAGGPGGGLGGARPLNVALVFSGPAYAA EAARLGPAVAAAVRSPGLDVRPVALVLNGSDPRSLVLQLCDLLSGLRVHGVVFEDDSRAPAVAP ILDFLSAQTSLPIVAVHGGAALVLTPKEKGSTFLQLGSSTEQQLQVIFEVLEEYDWTSFVAVTT RAPGHRAFLSYIEVLTDGSLVGWEHRGALTLDPGAGEAVLSAQLRSVSAQIRLLFCAREEAEPV FRAAEEAGLTGSGYVWFMVGPQLAGGGGSGAPGEPPLLPGGAPLPAGLFAVRSAGWRDDLARRV AAGVAVVARGAQALLRDYGFLPELGHDCRAQNRTHRGESLHRYFMNITWDNRDYSFNEDGFLVN PSLVVISLTRDRTWEVVGSWEQQTLRLKYPLWSRYGRFLQPVDDTQHLTVATLEERPFVIVEPA DPISGTCIRDSVPCRSQLNRTHSPPPDAPRPEKRCCKGFCIDILKRLAHTIGFSYDLYLVTNGK HGKKIDGVWNGMIGEVFYQRADMAIGSLTINEERSEIVDFSVPFVETGISVMVARSNGTVSPSA FLEPYSPAVWVMMFVMCLTVVAVTVFIFEYLSPVGYNRSLATGKRPGGSTFTIGKSIWLLWALV FNNSVPVENPRGTTSKIMVLVWAFFAVIFLASYTANLAAFMIQEEYVDTVSGLSDRKFQRPQEQ YPPLKFGTVPNGSTEKNIRSNYPDMHSYMVRYNQPRVEEALTQLKAGKLDAFIYDAAVLNYMAR KDEGCKLVTIGSGKVFATTGYGIALHKGSRWKRPIDLALLQFLGDDEIEMLERLWLSGICHNDK IEVMSSKLDIDNMAGVFYMLLVAMGLSLLVFAWEHLVYWRLRHCLGPTHRMDFLLAFSRGMYSC CSAEAAPPPAKPPPPPQPLPSPAYPAPRPAPGPAPFVPRERASVDRWRRTKGAGPPGGAGLADG FHRYYGPIEPQGLGLGLGEARAAPRGAAGRPLSPPAAQPPQKPPPSYFAIVRDKEPAEPPAGAF PGFPSPPAPPAAAATAVGPPLCRLAFEDESPPAPARWPRSDPESQPLLGPGAGGAGGTGGAGGG APAAPPPCRAAPPPCPYLDLEPSPSDSEDSESLGGASLGGLEPWWFADFPYPYAERLGPPPGRY WSVDKLGGWRAGSWDYLPPRSGPAAWHCRHCASLELLPPPRHLSCSHDGLDGGWWAPPPPPWAA GPLPRRRARCGCPRSHPHRPRASHRTPAAAAPHHHRHRRAAGGWDLPPPAPTSRSLEDLSSCPR AAPARRLTGPSRHARRCPHAAHWGPPLPTASHRRHRGGDLGTRRGSAHFSSLESEV hide sequence

RefSeq Acc Id:	XP_011525174 ⟸ XM_011526872
- Peptide Label:	isoform X1
- UniProtKB:	O15399 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRGAGGPRGPRGPAKMLLLLALACASPFPEEAPGPGGAGGPGGGLGGARPLNVALVFSGPAYAA EAARLGPAVAAAVRSPGLDVRPVALVLNGSDPRSLVLQLCDLLSGLRVHGVVFEDDSRAPAVAP ILDFLSAQTSLPIVAVHGGAALVLTPKEKGSTFLQLGSSTEQQLQVIFEVLEEYDWTSFVAVTT RAPGHRAFLSYIEVLTDGSLVGWEHRGALTLDPGAGEAVLSAQLRSVSAQIRLLFCAREEAEPV FRAAEEAGLTGSGYVWFMVGPQLAGGGGSGAPGEPPLLPGGAPLPAGLFAVRSAGWRDDLARRV AAGVAVVARGAQALLRDYGFLPELGHDCRAQNRTHRGESLHRYFMNITWDNRDYSFNEDGFLVN PSLVVISLTRDRTWEVVGSWEQQTLRLKYPLWSRYGRFLQPVDDTQHLTVATLEERPFVIVEPA DPISGTCIRDSVPCRSQLNRTHSPPPDAPRPEKRCCKGFCIDILKRLAHTIGFSYDLYLVTNGK HGKKIDGVWNGMIGEVFYQRADMAIGSLTINEERSEIVDFSVPFVETGISVMVARSNGTVSPSA FLEPYSPAVWVMMFVMCLTVVAVTVFIFEYLSPVGYNRSLATGKRPGGSTFTIGKSIWLLWALV FNNSVPVENPRGTTSKIMVLVWAFFAVIFLASYTANLAAFMIQEEYVDTVSGLSDRKFQRPQEQ YPPLKFGTVPNGSTEKNIRSNYPDMHSYMVRYNQPRVEEALTQLKAGKLDAFIYDAAVLNYMAR KDEGCKLVTIGSGKVFATTGYGIALHKGSRWKRPIDLALLQFLGDDEIEMLERLWLSGICHNDK IEVMSSKLDIDNMAGVFYMLLVAMGLSLLVFAWEHLVYWRLRHCLGPTHRMDFLLAFSRGMYSC CSAEAAPPPAKPPPPPQPLPSPAYPAPRPAPGPAPFVPRERASVDRWRRTKGAGPPGGAGLADG FHRYYGPIEPQGLGLGLGEARAAPRGAAGRPLSPPAAQPPQKPPPSYFAIVRDKEPAEPPAGAF PGFPSPPAPPAAAATAVGPPLCRLAFEDESPPAPARWPRSDPESQPLLGPGAGGAGGTGGAGGG APAAPPPCRAAPPPCPYLDLEPSPSDSEDSESLGGASLGGLEPWWFADFPYPYAERLGPPPGRY WSVDKLGGWRAGSWDYLPPRSGPAAWHCRHCASLELLPPPRHLSCSHDGLDGGWWAPPPPPWAA GPLPRRRARCGCPRSHPHRPRASHRTPAAAAPHHHRHRRAAGGWDLPPPAPTSRSLEDLSSCPR AAPARRLTGPSRHARRCPHAAHWGPPLPTASHRRHRGGDLGTRRGSAHFSSLESEV hide sequence

Ensembl Acc Id:

ENSP00000263269 ⟸ ENST00000263269

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O15399-F1-model_v2	AlphaFold	O15399	1-1336	view protein structure

Promoters

RGD ID:

13204951

Promoter ID:

EPDNEW_H26058

Type:

initiation region

Name:

GRIN2D_1

Description:

glutamate ionotropic receptor NMDA type subunit 2D

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	48,393,681 - 48,393,741	EPDNEW

RGD ID:

6795622

Promoter ID:

HG_KWN:30442

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, NB4

Transcripts:

NM_000836

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	53,588,991 - 53,590,142 (+)	MPROMDB

RGD ID:

6811599

Promoter ID:

HG_ACW:42159

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

GRIN2D.CAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	53,593,484 - 53,593,984 (+)	MPROMDB

RGD ID:

6795623

Promoter ID:

HG_KWN:30443

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, Lymphoblastoid, NB4

Transcripts:

UC010ELX.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	53,613,706 - 53,614,587 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:4588	AgrOrtholog
COSMIC	GRIN2D	COSMIC
Ensembl Genes	ENSG00000105464	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000263269	ENTREZGENE
	ENST00000263269.4	UniProtKB/Swiss-Prot
Gene3D-CATH	3.40.50.2300	UniProtKB/Swiss-Prot
	Periplasmic binding protein-like II	UniProtKB/Swiss-Prot
GTEx	ENSG00000105464	GTEx
HGNC ID	HGNC:4588	ENTREZGENE
Human Proteome Map	GRIN2D	Human Proteome Map
InterPro	ANF_lig-bd_rcpt	UniProtKB/Swiss-Prot
	Glu/Gly-bd	UniProtKB/Swiss-Prot
	Iono_rcpt_met	UniProtKB/Swiss-Prot
	Ionotropic_Glu_rcpt	UniProtKB/Swiss-Prot
	Iontro_rcpt	UniProtKB/Swiss-Prot
	Peripla_BP_I	UniProtKB/Swiss-Prot
KEGG Report	hsa:2906	UniProtKB/Swiss-Prot
NCBI Gene	2906	ENTREZGENE
OMIM	602717	OMIM
PANTHER	IONOTROPIC GLUTAMATE RECEPTOR	UniProtKB/Swiss-Prot
Pfam	ANF_receptor	UniProtKB/Swiss-Prot
	Lig_chan	UniProtKB/Swiss-Prot
	Lig_chan-Glu_bd	UniProtKB/Swiss-Prot
PharmGKB	PA28982	PharmGKB
PRINTS	NMDARECEPTOR	UniProtKB/Swiss-Prot
SMART	Lig_chan-Glu_bd	UniProtKB/Swiss-Prot
	PBPe	UniProtKB/Swiss-Prot
Superfamily-SCOP	Periplasmic binding protein-like II	UniProtKB/Swiss-Prot
	SSF53822	UniProtKB/Swiss-Prot
UniProt	NMDE4_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q59G17_HUMAN	UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-10	GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	Symbol and/or name change	5135510	APPROVED

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)

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Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

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