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Gene: DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) Homo sapiens

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Symbol:

DYRK1A

Name:

dual specificity tyrosine phosphorylation regulated kinase 1A

RGD ID:

737237

HGNC Page

HGNC:3091

Description:

Enables cytoskeletal protein binding activity; identical protein binding activity; and protein kinase activity. Involved in amyloid-beta formation; positive regulation of gene expression; and protein phosphorylation. Acts upstream of or within peptidyl-tyrosine phosphorylation. Located in several cellular components, including centrosome; nuclear speck; and polymeric cytoskeletal fiber. Is active in nucleus. Implicated in autism spectrum disorder; autosomal dominant intellectual developmental disorder 7; and intellectual disability. Biomarker of Down syndrome.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A; dual specificity tyrosine-phosphorylation-regulated kinase 1A; dual specificity YAK1-related kinase; dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A; DYRK; DYRK1; hMNB; HP86; MNB; mnb protein kinase homolog hp86; MNB/DYRK protein kinase; MNBH; MRD7; protein kinase minibrain homolog; serine/threonine kinase MNB; serine/threonine-specific protein kinase

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	21	37,365,573 - 37,526,358 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	21	37,365,573 - 37,526,358 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	21	38,737,875 - 38,898,660 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	21	37,661,729 - 37,809,549 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	21	37,714,470 - 37,809,347	NCBI
Celera	21	23,938,247 - 24,086,068 (+)	NCBI		Celera
Cytogenetic Map	21	q22.13	NCBI
HuRef	21	24,215,875 - 24,363,782 (+)	NCBI		HuRef
CHM1_1	21	38,301,002 - 38,448,854 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	21	35,747,888 - 35,908,739 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DYRK1A	Human	autism spectrum disorder		ISO	Dyrk1a (Mus musculus)	27095962		RGD
DYRK1A	Human	autism spectrum disorder		IAGP		11536538	DNA:haploinsufficiency: :	RGD
DYRK1A	Human	Cardiomegaly	treatment	ISO	Dyrk1a (Rattus norvegicus)	401940196		RGD
DYRK1A	Human	Cardiomegaly		ISO	Dyrk1a (Rattus norvegicus)	401959215	protein:decreased expression:heart (rat)	RGD
DYRK1A	Human	Cardiomegaly	treatment	ISO	Dyrk1a (Rattus norvegicus)	401959210		RGD
DYRK1A	Human	congestive heart failure	treatment	ISO	Dyrk1a (Rattus norvegicus)	11097969	associated with myocardial infarction	RGD
DYRK1A	Human	dilated cardiomyopathy	severity	ISO	Dyrk1a (Rattus norvegicus)	401959209	rat cDNA in mouse model	RGD
DYRK1A	Human	Down syndrome	treatment	ISO	Dyrk1a (Mus musculus)	14973377		RGD
DYRK1A	Human	Down syndrome		IEP		401940180	protein:increased expression:brain (human)	RGD
DYRK1A	Human	Down syndrome		IEP		14974029	protein:increased expression:brain:	RGD
DYRK1A	Human	Down syndrome	treatment	ISO	Dyrk1a (Mus musculus)	14974030		RGD
DYRK1A	Human	Febrile Seizures	susceptibility	ISO	Dyrk1a (Mus musculus)	27095962		RGD
DYRK1A	Human	hyperhomocysteinemia		ISO	Dyrk1a (Rattus norvegicus)	401959215	protein:decreased expression:heart (rat)	RGD
DYRK1A	Human	intellectual disability		IAGP		11536538	DNA:haploinsufficiency: :	RGD
DYRK1A	Human	intellectual disability		IAGP		11076606	DNA:mutations:cds:	RGD
DYRK1A	Human	myocardial infarction	treatment	ISO	Dyrk1a (Rattus norvegicus)	11097969	associated with heart failure more ...	RGD
DYRK1A	Human	renovascular hypertension	treatment	ISO	Dyrk1a (Rattus norvegicus)	401940196		RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DYRK1A	Human	amyotrophic lateral sclerosis type 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	ClinVar	PMID:17237124 more ...
DYRK1A	Human	autism spectrum disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:25741868 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:23099646 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25167861 and PMID:38030819
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:26467025 and PMID:28492532
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 and PMID:38030819
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25944381 and PMID:28492532
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:28492532
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:28492532
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:28492532
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:28492532
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:28492532 and PMID:34345024
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:17576681 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:28492532 and PMID:33562844
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:16199547 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25944381 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:28492532
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 and PMID:28492532
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:18414213 and PMID:39825153
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25944381
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:23160955
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:28492532 and PMID:33753861
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 and PMID:39033378
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:28492532 and PMID:33004838
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25944381 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 and PMID:38177409
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:24033266 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:17576681 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 and PMID:34253714
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:23099646 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25326635 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25944381 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:24088041 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25944381 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER and AUTOSOMAL DOMINANT 7	ClinVar	PMID:25167861 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25944381 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:16199547 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25707398 and PMID:25741868
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25920557 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:28492532 and PMID:32959227
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 and PMID:25741883
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:16199547 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:17237124 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:21204217 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 and PMID:28053047
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:17576681 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:24088041 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:24088041 and PMID:26633545
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 and PMID:34008892
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 and PMID:33624935
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:21294719
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:18414213 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:28167836 and PMID:28492532
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:16199547 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 and PMID:28708303
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25326635 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25944381 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 more ...
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:25741868 and PMID:25944381
DYRK1A	Human	developmental and epileptic encephalopathy 11		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Complex neurodevelopmental disorder	ClinVar	PMID:25741868 more ...
DYRK1A	Human	developmental and epileptic encephalopathy 11		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Complex neurodevelopmental disorder	ClinVar	PMID:25741868 more ...
DYRK1A	Human	developmental and epileptic encephalopathy 11		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Complex neurodevelopmental disorder	ClinVar	PMID:25944381
DYRK1A	Human	developmental and epileptic encephalopathy 11		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Complex neurodevelopmental disorder	ClinVar	PMID:17576681 more ...
DYRK1A	Human	developmental and epileptic encephalopathy 11		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Complex neurodevelopmental disorder	ClinVar
DYRK1A	Human	developmental and epileptic encephalopathy 11		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Complex neurodevelopmental disorder	ClinVar	PMID:25741868 more ...
DYRK1A	Human	developmental and epileptic encephalopathy 11		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Complex neurodevelopmental disorder	ClinVar	PMID:25741868
DYRK1A	Human	developmental and epileptic encephalopathy 11		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Complex neurodevelopmental disorder	ClinVar	PMID:25944381 and PMID:28492532
DYRK1A	Human	developmental and epileptic encephalopathy 11		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Complex neurodevelopmental disorder	ClinVar	PMID:25326635 more ...
DYRK1A	Human	developmental and epileptic encephalopathy 11		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Complex neurodevelopmental disorder	ClinVar	PMID:24088041 more ...
DYRK1A	Human	Developmental Disabilities		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25741868
DYRK1A	Human	Developmental Disabilities		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25167861 more ...
DYRK1A	Human	Developmental Disabilities		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25741868 and PMID:25741883
DYRK1A	Human	enophthalmos		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Enophthalmos	ClinVar	PMID:25167861 more ...
DYRK1A	Human	epilepsy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:18414213 and PMID:39825153
DYRK1A	Human	epilepsy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Seizure	ClinVar
DYRK1A	Human	epilepsy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25326635 more ...
DYRK1A	Human	epilepsy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25741868 more ...
DYRK1A	Human	epilepsy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25741868 and PMID:25920557
DYRK1A	Human	Familial Platelet Disorder with Associated Myeloid Malignancy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	ClinVar	PMID:17237124 more ...
DYRK1A	Human	generalized epilepsy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Generalized-onset seizure	ClinVar	PMID:25167861 more ...
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25944381 and PMID:28492532
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 more ...
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:35032046
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:23099646 more ...
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:26467025 and PMID:28492532
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 more ...
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25326635 more ...
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:34345024
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 more ...
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25167861 more ...
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25707398 and PMID:25741868
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25730262
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:18414213 more ...
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 more ...
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 more ...
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:25944381
DYRK1A	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
DYRK1A	Human	immunodeficiency 28		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Immunodeficiency 28	ClinVar	PMID:17237124 more ...
DYRK1A	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 more ...
DYRK1A	Human	intellectual disability		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
DYRK1A	Human	intellectual disability		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 and PMID:28492532
DYRK1A	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:17576681 more ...
DYRK1A	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:23099646 more ...
DYRK1A	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 more ...
DYRK1A	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:34345024
DYRK1A	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25167861 more ...
DYRK1A	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 and PMID:25920557
DYRK1A	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:24088041 more ...
DYRK1A	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 more ...
DYRK1A	Human	intellectual disability		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
DYRK1A	Human	microcephaly		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microcephaly	ClinVar	PMID:25167861 more ...
DYRK1A	Human	microphthalmia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microphthalmia	ClinVar	PMID:25167861 more ...
DYRK1A	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
DYRK1A	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868 and PMID:28492532
DYRK1A	Human	spermatogenic failure 5		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder	ClinVar	PMID:25741868
DYRK1A	Human	sudden infant death syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DYRK1A	Human	epilepsy		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:29942082
DYRK1A	Human	Neurodevelopmental Disorders		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:28191889 and PMID:29942082
DYRK1A	Human	pancreatic cancer		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:31838052

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		ISS	Dyrk1a (Mus musculus)	13592920	OMIM:614104	MouseDO
DYRK1A	Human	Down syndrome		ISS	Dyrk1a (Mus musculus)	13592920	OMIM:190685	MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DYRK1A	Human	autosomal dominant intellectual developmental disorder 7		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DYRK1A	Human	(-)-epigallocatechin 3-gallate	decreases activity	EXP		6480464	epigallocatechin gallate results in decreased activity of DYRK1A protein	CTD	PMID:12534346
DYRK1A	Human	(-)-epigallocatechin 3-gallate	decreases expression	ISO	Dyrk1a (Rattus norvegicus)	11097969	EGCG decreases expression of dyrk1a protein after myocardial infarction in rat heart left ventricle	RGD
DYRK1A	Human	1,2-dimethylhydrazine	decreases expression	ISO	Dyrk1a (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of DYRK1A mRNA	CTD	PMID:22206623
DYRK1A	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Dyrk1a (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of DYRK1A mRNA	CTD	PMID:19465110
DYRK1A	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Dyrk1a (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of DYRK1A mRNA	CTD	PMID:21570461
DYRK1A	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	EXP		6480464	Tetrachlorodibenzodioxin results in decreased expression of DYRK1A mRNA	CTD	PMID:21296121
DYRK1A	Human	2,4-dinitrotoluene	affects expression	ISO	Dyrk1a (Rattus norvegicus)	6480464	2 and 4-dinitrotoluene affects the expression of DYRK1A mRNA	CTD	PMID:21346803
DYRK1A	Human	2,6-dinitrotoluene	affects expression	ISO	Dyrk1a (Rattus norvegicus)	6480464	2 and 6-dinitrotoluene affects the expression of DYRK1A mRNA	CTD	PMID:21346803
DYRK1A	Human	3,4-methylenedioxymethamphetamine	decreases expression	ISO	Dyrk1a (Mus musculus)	6480464	N-Methyl-3 and 4-methylenedioxyamphetamine results in decreased expression of DYRK1A mRNA	CTD	PMID:26251327
DYRK1A	Human	4,4'-diaminodiphenylmethane	increases expression	ISO	Dyrk1a (Mus musculus)	6480464	4 and 4'-diaminodiphenylmethane results in increased expression of DYRK1A mRNA	CTD	PMID:18648102
DYRK1A	Human	5-iodotubercidin	decreases activity	EXP		6480464	5-iodotubercidin results in decreased activity of DYRK1A protein	CTD	PMID:26953159
DYRK1A	Human	acrylamide	increases expression	EXP		6480464	Acrylamide results in increased expression of DYRK1A mRNA	CTD	PMID:32763439
DYRK1A	Human	aflatoxin B1	increases methylation	EXP		6480464	Aflatoxin B1 results in increased methylation of DYRK1A gene	CTD	PMID:27153756
DYRK1A	Human	ageladine A	multiple interactions	ISO	Dyrk1a (Rattus norvegicus)	6480464	Ageladine A analog binds to and results in decreased activity of DYRK1A protein	CTD	PMID:21413800
DYRK1A	Human	ageladine A	decreases activity	ISO	Dyrk1a (Rattus norvegicus)	6480464	Ageladine A results in decreased activity of DYRK1A protein	CTD	PMID:21413800
DYRK1A	Human	amitrole	decreases expression	ISO	Dyrk1a (Rattus norvegicus)	6480464	Amitrole results in decreased expression of DYRK1A mRNA	CTD	PMID:38685447
DYRK1A	Human	ammonium chloride	affects expression	ISO	Dyrk1a (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of DYRK1A mRNA	CTD	PMID:16483693
DYRK1A	Human	anthra[1,9-cd]pyrazol-6(2H)-one	decreases activity	EXP		6480464	pyrazolanthrone results in decreased activity of DYRK1A protein	CTD	PMID:12534346
DYRK1A	Human	antirheumatic drug	increases expression	EXP		6480464	Antirheumatic Agents results in increased expression of DYRK1A mRNA	CTD	PMID:24449571
DYRK1A	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of DYRK1A mRNA	CTD	PMID:33212167
DYRK1A	Human	arsane	multiple interactions	EXP		6480464	[sodium arsenite results in increased abundance of Arsenic] which results in increased expression of DYRK1A mRNA	CTD	PMID:39836092
DYRK1A	Human	arsenic atom	multiple interactions	EXP		6480464	[sodium arsenite results in increased abundance of Arsenic] which results in increased expression of DYRK1A mRNA	CTD	PMID:39836092
DYRK1A	Human	arsenite(3-)	multiple interactions	EXP		6480464	arsenite inhibits the reaction [G3BP1 protein binds to DYRK1A mRNA]	CTD	PMID:32406909
DYRK1A	Human	arsenous acid	increases response to substance	EXP		6480464	DYRK1A protein results in increased susceptibility to Arsenic Trioxide	CTD	PMID:20707922
DYRK1A	Human	benzo[a]pyrene	increases mutagenesis	EXP		6480464	Benzo(a)pyrene results in increased mutagenesis of DYRK1A gene	CTD	PMID:25435355
DYRK1A	Human	benzo[a]pyrene	increases expression	ISO	Dyrk1a (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of DYRK1A mRNA	CTD	PMID:22228805
DYRK1A	Human	benzo[a]pyrene diol epoxide I	decreases expression	EXP		6480464	7 more ...	CTD	PMID:19150397
DYRK1A	Human	beta-lapachone	decreases expression	EXP		6480464	beta-lapachone results in decreased expression of DYRK1A mRNA	CTD	PMID:38218311
DYRK1A	Human	bisphenol A	affects expression	ISO	Dyrk1a (Rattus norvegicus)	6480464	bisphenol A affects the expression of DYRK1A mRNA	CTD	PMID:25181051
DYRK1A	Human	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in increased methylation of DYRK1A gene	CTD	PMID:31601247
DYRK1A	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of DYRK1A gene	CTD	PMID:31601247
DYRK1A	Human	bisphenol A	increases expression	ISO	Dyrk1a (Rattus norvegicus)	6480464	bisphenol A results in increased expression of DYRK1A mRNA	CTD	PMID:30816183 more ...
DYRK1A	Human	bisphenol A	increases methylation	ISO	Dyrk1a (Rattus norvegicus)	6480464	bisphenol A results in increased methylation of DYRK1A gene	CTD	PMID:28505145
DYRK1A	Human	cadmium dichloride	decreases expression	EXP		6480464	Cadmium Chloride results in decreased expression of DYRK1A mRNA	CTD	PMID:38568856
DYRK1A	Human	caffeine	affects phosphorylation	EXP		6480464	Caffeine affects the phosphorylation of DYRK1A protein	CTD	PMID:35688186
DYRK1A	Human	calyculin a	increases expression	ISO	Dyrk1a (Mus musculus)	6480464	calyculin A results in increased expression of DYRK1A mRNA	CTD	PMID:25270620
DYRK1A	Human	cannabidiol	decreases expression	EXP		6480464	Cannabidiol results in decreased expression of DYRK1A mRNA	CTD	PMID:28025562
DYRK1A	Human	casticin	decreases expression	ISO	Dyrk1a (Mus musculus)	6480464	casticin results in decreased expression of DYRK1A mRNA	CTD	PMID:28444820
DYRK1A	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to DYRK1A gene]	CTD	PMID:28238834
DYRK1A	Human	choline	multiple interactions	ISO	Dyrk1a (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of DYRK1A mRNA	CTD	PMID:20938992
DYRK1A	Human	copper(II) sulfate	increases expression	EXP		6480464	Copper Sulfate results in increased expression of DYRK1A mRNA	CTD	PMID:19549813
DYRK1A	Human	coumarin	increases phosphorylation	EXP		6480464	coumarin results in increased phosphorylation of DYRK1A protein	CTD	PMID:35688186
DYRK1A	Human	diarsenic trioxide	increases response to substance	EXP		6480464	DYRK1A protein results in increased susceptibility to Arsenic Trioxide	CTD	PMID:20707922
DYRK1A	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of DYRK1A mRNA	CTD	PMID:37042841
DYRK1A	Human	dibutyl phthalate	increases expression	ISO	Dyrk1a (Mus musculus)	6480464	Dibutyl Phthalate results in increased expression of DYRK1A mRNA	CTD	PMID:21266533
DYRK1A	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of DYRK1A protein	CTD	PMID:23301498
DYRK1A	Human	folic acid	multiple interactions	ISO	Dyrk1a (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of DYRK1A mRNA	CTD	PMID:20938992
DYRK1A	Human	folic acid	decreases expression	ISO	Dyrk1a (Mus musculus)	6480464	Folic Acid results in decreased expression of DYRK1A mRNA	CTD	PMID:25629700
DYRK1A	Human	formaldehyde	decreases expression	EXP		6480464	Formaldehyde results in decreased expression of DYRK1A mRNA	CTD	PMID:20655997
DYRK1A	Human	fulvestrant	decreases methylation	EXP		6480464	Fulvestrant results in decreased methylation of DYRK1A gene	CTD	PMID:31601247
DYRK1A	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in increased methylation of DYRK1A gene	CTD	PMID:31601247
DYRK1A	Human	gentamycin	increases expression	ISO	Dyrk1a (Rattus norvegicus)	6480464	Gentamicins results in increased expression of DYRK1A mRNA	CTD	PMID:33387578
DYRK1A	Human	glycyrin	decreases activity	EXP		6480464	glycyrin results in decreased activity of DYRK1A protein	CTD	PMID:31838052
DYRK1A	Human	harmine	multiple interactions	EXP		6480464	Harmine inhibits the reaction [DYRK1A protein results in increased phosphorylation of MAPT protein]	CTD	PMID:21573099
DYRK1A	Human	harmine	decreases expression	ISO	Dyrk1a (Rattus norvegicus)	11097969	harmine decreases expression of dyrk1a protein after myocardial infarction in rat heart left ventricle	RGD
DYRK1A	Human	harmine	affects binding	EXP		6480464	Harmine binds to DYRK1A protein	CTD	PMID:25751815
DYRK1A	Human	harmine	decreases activity	EXP		6480464	Harmine results in decreased activity of DYRK1A protein	CTD	PMID:21573099
DYRK1A	Human	hydrogen peroxide	affects expression	EXP		6480464	Hydrogen Peroxide affects the expression of DYRK1A mRNA	CTD	PMID:20044591
DYRK1A	Human	irinotecan	decreases expression	EXP		6480464	Irinotecan metabolite results in decreased expression of DYRK1A mRNA and Irinotecan results in decreased expression of DYRK1A mRNA	CTD	PMID:15956246
DYRK1A	Human	L-methionine	multiple interactions	ISO	Dyrk1a (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of DYRK1A mRNA	CTD	PMID:20938992
DYRK1A	Human	leflunomide	increases expression	EXP		6480464	leflunomide results in increased expression of DYRK1A mRNA	CTD	PMID:28988120
DYRK1A	Human	Licochalcone A	decreases activity	EXP		6480464	licochalcone A results in decreased activity of DYRK1A protein	CTD	PMID:31838052
DYRK1A	Human	licocoumarone	multiple interactions	EXP		6480464	licocoumarone binds to and results in decreased activity of DYRK1A protein	CTD	PMID:31838052
DYRK1A	Human	methionine	decreases expression	ISO	Dyrk1a (Rattus norvegicus)	401959215	methionine decreases expression of dyrk1a protein in rat heart	RGD
DYRK1A	Human	nitroglycerin	decreases expression	ISO	Dyrk1a (Rattus norvegicus)	6480464	Nitroglycerin results in decreased expression of DYRK1A mRNA	CTD	PMID:12102619
DYRK1A	Human	oxaliplatin	multiple interactions	ISO	Dyrk1a (Rattus norvegicus)	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of DYRK1A mRNA	CTD	PMID:25729387
DYRK1A	Human	ozone	multiple interactions	EXP		6480464	[Air Pollutants results in increased abundance of Ozone] which affects the expression of DYRK1A mRNA	CTD	PMID:35430440
DYRK1A	Human	paracetamol	affects expression	ISO	Dyrk1a (Mus musculus)	6480464	Acetaminophen affects the expression of DYRK1A mRNA	CTD	PMID:17562736
DYRK1A	Human	paraquat	increases expression	ISO	Dyrk1a (Mus musculus)	6480464	Paraquat results in increased expression of DYRK1A mRNA	CTD	PMID:21371552
DYRK1A	Human	perfluorohexanesulfonic acid	decreases expression	ISO	Dyrk1a (Mus musculus)	6480464	perfluorohexanesulfonic acid results in decreased expression of DYRK1A mRNA	CTD	PMID:37995155
DYRK1A	Human	resveratrol	decreases expression	EXP		6480464	resveratrol results in decreased expression of DYRK1A mRNA	CTD	PMID:12569576
DYRK1A	Human	silver atom	increases expression	EXP		6480464	Silver results in increased expression of DYRK1A mRNA	CTD	PMID:26014281
DYRK1A	Human	silver(0)	increases expression	EXP		6480464	Silver results in increased expression of DYRK1A mRNA	CTD	PMID:26014281
DYRK1A	Human	sodium arsenate	increases expression	ISO	Dyrk1a (Mus musculus)	6480464	sodium arsenate results in increased expression of DYRK1A mRNA	CTD	PMID:21795629
DYRK1A	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of DYRK1A mRNA	CTD	PMID:38568856
DYRK1A	Human	sodium arsenite	multiple interactions	EXP		6480464	[sodium arsenite results in increased abundance of Arsenic] which results in increased expression of DYRK1A mRNA	CTD	PMID:39836092
DYRK1A	Human	SU6656	decreases activity	EXP		6480464	SU 6656 results in decreased activity of DYRK1A protein	CTD	PMID:12534346
DYRK1A	Human	sunitinib	increases expression	EXP		6480464	Sunitinib results in increased expression of DYRK1A mRNA	CTD	PMID:31533062
DYRK1A	Human	thioacetamide	increases expression	ISO	Dyrk1a (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of DYRK1A mRNA	CTD	PMID:34492290
DYRK1A	Human	topotecan	decreases expression	ISO	Dyrk1a (Rattus norvegicus)	6480464	Topotecan results in decreased expression of DYRK1A mRNA	CTD	PMID:25729387
DYRK1A	Human	topotecan	multiple interactions	ISO	Dyrk1a (Rattus norvegicus)	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of DYRK1A mRNA	CTD	PMID:25729387
DYRK1A	Human	trichostatin A	affects expression	EXP		6480464	trichostatin A affects the expression of DYRK1A mRNA	CTD	PMID:28542535
DYRK1A	Human	troglitazone	decreases expression	ISO	Dyrk1a (Mus musculus)	6480464	troglitazone results in decreased expression of DYRK1A mRNA	CTD	PMID:28973697
DYRK1A	Human	urethane	increases expression	EXP		6480464	Urethane results in increased expression of DYRK1A mRNA	CTD	PMID:28818685
DYRK1A	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of DYRK1A mRNA	CTD	PMID:23179753
DYRK1A	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of DYRK1A mRNA	CTD	PMID:25979313
DYRK1A	Human	valsartan	decreases expression	ISO	Dyrk1a (Rattus norvegicus)	401940196	valsartan inhibits the reaction [renovascular hypertension and cardiomegaly increases expression of dyrk1a protein in left ventricle of 2k1c rats]	RGD

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DYRK1A	Human	calcineurin-NFAT signaling cascade		ISO	Dyrk1a (Rattus norvegicus)	9068941		RGD	PMID:21273244 and REF_RGD_ID:401940178
DYRK1A	Human	cardiac muscle hypertrophy		ISO	Dyrk1a (Rattus norvegicus)	9068941		RGD	PMID:19906449 and REF_RGD_ID:401959215
DYRK1A	Human	chromatin remodeling	involved_in	IEA	GO:0140857	150520179		GOC	GO_REF:0000108
DYRK1A	Human	circadian rhythm	involved_in	ISS	UniProtKB:Q61214	150520179		UniProt	GO_REF:0000024
DYRK1A	Human	circadian rhythm	involved_in	IEA	UniProtKB:Q61214 and ensembl:ENSMUSP00000113660	150520179		Ensembl	GO_REF:0000107
DYRK1A	Human	negative regulation of cell cycle		ISO	Dyrk1a (Rattus norvegicus)	9068941		RGD	PMID:27056896 and REF_RGD_ID:401959209
DYRK1A	Human	negative regulation of DNA damage response, signal transduction by p53 class mediator	involved_in	ISS	UniProtKB:Q61214	150520179	PMID:20736167	BHF-UCL	PMID:20736167
DYRK1A	Human	negative regulation of DNA damage response, signal transduction by p53 class mediator	involved_in	IEA	UniProtKB:Q61214 and ensembl:ENSMUSP00000113660	150520179		Ensembl	GO_REF:0000107
DYRK1A	Human	negative regulation of gene expression		ISO	Ccnd2 more ...	9068941		RGD	PMID:27056896 and REF_RGD_ID:401959209
DYRK1A	Human	negative regulation of heterochromatin formation	involved_in	IDA		150520179	PMID:24820035	GO_Central	PMID:24820035
DYRK1A	Human	negative regulation of microtubule polymerization	involved_in	ISS	UniProtKB:Q61214	150520179	PMID:17906291	ARUK-UCL	PMID:17906291
DYRK1A	Human	negative regulation of microtubule polymerization	involved_in	IEA	UniProtKB:Q61214 and ensembl:ENSMUSP00000113660	150520179		Ensembl	GO_REF:0000107
DYRK1A	Human	negative regulation of mRNA splicing, via spliceosome	acts_upstream_of_or_within	IEA	UniProtKB:Q61214 and ensembl:ENSMUSP00000113660	150520179		Ensembl	GO_REF:0000107
DYRK1A	Human	negative regulation of protein phosphorylation		ISO	Rb1	9068941		RGD	PMID:27056896 and REF_RGD_ID:401959209
DYRK1A	Human	nervous system development	involved_in	TAS		150520179	PMID:8769099	PINC	PMID:8769099
DYRK1A	Human	peptidyl-serine phosphorylation	involved_in	ISO	Dyrk1a (Rattus norvegicus)	9068941	PMID:22767602	UniProt	PMID:22767602 and REF_RGD_ID:8554210
DYRK1A	Human	peptidyl-serine phosphorylation	involved_in	ISO	Dyrk1a (Mus musculus)	9068941	PMID:20123978	UniProt	PMID:20123978
DYRK1A	Human	peptidyl-tyrosine autophosphorylation	involved_in	ISO	Dyrk1a (Mus musculus)	9068941	PMID:24327345	ARUK-UCL	PMID:24327345
DYRK1A	Human	peptidyl-tyrosine phosphorylation	involved_in	ISS	UniProtKB:Q63470	150520179		UniProt	GO_REF:0000024
DYRK1A	Human	peptidyl-tyrosine phosphorylation	acts_upstream_of_or_within	IDA		150520179	PMID:9748265	MGI	PMID:9748265
DYRK1A	Human	positive regulation of DNA-templated transcription	involved_in	IBA	PANTHER:PTN000624548 and UniProtKB:Q9Y463	150520179		GO_Central	GO_REF:0000033
DYRK1A	Human	positive regulation of RNA splicing	involved_in	IBA	PANTHER:PTN002780677 more ...	150520179		GO_Central	GO_REF:0000033
DYRK1A	Human	positive regulation of RNA splicing	involved_in	IDA		150520179	PMID:28377597	ARUK-UCL	PMID:28377597
DYRK1A	Human	protein autophosphorylation	involved_in	ISS	UniProtKB:Q63470	150520179		UniProt	GO_REF:0000024
DYRK1A	Human	protein import into nucleus		ISO	Dyrk1a (Rattus norvegicus)	9068941		RGD	PMID:21273244 and REF_RGD_ID:401940178
DYRK1A	Human	protein phosphorylation		ISO	Dyrk1a (Rattus norvegicus)	9068941		RGD	PMID:11877424 and REF_RGD_ID:625468
DYRK1A	Human	protein phosphorylation	involved_in	ISS	UniProtKB:Q63470	150520179		UniProt	GO_REF:0000024
DYRK1A	Human	regulation of alternative mRNA splicing, via spliceosome	involved_in	ISS	UniProtKB:Q63470	150520179		ARUK-UCL	GO_REF:0000024
DYRK1A	Human	regulation of amyloid-beta formation	involved_in	IMP		150520179	PMID:25556849	ARUK-UCL	PMID:25556849
DYRK1A	Human	regulation of cardiac muscle cell proliferation		ISO	Dyrk1a (Rattus norvegicus)	9068941		RGD	PMID:27056896 and REF_RGD_ID:401959209
DYRK1A	Human	regulation of cell growth involved in cardiac muscle cell development		ISO	Dyrk1a (Rattus norvegicus)	9068941		RGD	PMID:21273244 and REF_RGD_ID:401940178
DYRK1A	Human	regulation of neurofibrillary tangle assembly	involved_in	IDA		150520179	PMID:25556849	ARUK-UCL	PMID:25556849
DYRK1A	Human	regulation of transcription by RNA polymerase II	involved_in	IEA	GO:0008353	150520179		GOC	GO_REF:0000108

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DYRK1A	Human	actin filament	located_in	IPI	UniProtKB:P60709	150520179	PMID:24327345	ARUK-UCL	PMID:24327345
DYRK1A	Human	axon	located_in	IEA	UniProtKB:Q61214 and ensembl:ENSMUSP00000113660	150520179		Ensembl	GO_REF:0000107
DYRK1A	Human	axon	located_in	ISS	UniProtKB:Q61214	150520179		ARUK-UCL	GO_REF:0000024
DYRK1A	Human	centrosome	located_in	IDA		150520179		HPA	GO_REF:0000052
DYRK1A	Human	cytoplasm	located_in	TAS		150520179	PMID:24327345	ARUK-UCL	PMID:24327345
DYRK1A	Human	cytoplasm	located_in	IEA	UniProtKB:Q61214 and ensembl:ENSMUSP00000113660	150520179		Ensembl	GO_REF:0000107
DYRK1A	Human	cytoplasm	located_in	IDA		150520179	PMID:15694837	UniProt	PMID:15694837
DYRK1A	Human	cytoplasm	located_in	ISS	UniProtKB:Q61214	150520179		ARUK-UCL	GO_REF:0000024
DYRK1A	Human	cytoskeleton	located_in	IDA		150520179	PMID:24327345	ARUK-UCL	PMID:24327345
DYRK1A	Human	cytoskeleton	located_in	IEA	UniProtKB:Q61214 and ensembl:ENSMUSP00000113660	150520179		Ensembl	GO_REF:0000107
DYRK1A	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052
DYRK1A	Human	dendrite	located_in	ISS	UniProtKB:Q61214	150520179		ARUK-UCL	GO_REF:0000024
DYRK1A	Human	dendrite	located_in	IEA	UniProtKB:Q61214 and ensembl:ENSMUSP00000113660	150520179		Ensembl	GO_REF:0000107
DYRK1A	Human	microtubule	located_in	IPI	UniProtKB:P68366	150520179	PMID:24327345	ARUK-UCL	PMID:24327345
DYRK1A	Human	neurofilament	located_in	IPI	UniProtKB:P12036	150520179	PMID:24327345	ARUK-UCL	PMID:24327345
DYRK1A	Human	nuclear speck	located_in	ISS	UniProtKB:Q63470	150520179		UniProt	GO_REF:0000024
DYRK1A	Human	nuclear speck	located_in	IDA		150520179		HPA	GO_REF:0000052
DYRK1A	Human	nuclear speck	located_in	IEA	UniProtKB-SubCell:SL-0186	150520179		UniProt	GO_REF:0000044
DYRK1A	Human	nuclear speck	located_in	TAS		150520179	PMID:28377597	ARUK-UCL	PMID:28377597
DYRK1A	Human	nucleolus	NOT\|located_in	ISO	Dyrk1a (Rattus norvegicus)	9068941	PMID:9748265	UniProt	PMID:9748265 and REF_RGD_ID:8554265
DYRK1A	Human	nucleoplasm	located_in	TAS		150520179		Reactome	Reactome:R-HSA-1362270
DYRK1A	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
DYRK1A	Human	nucleus	located_in	ISS	UniProtKB:Q61214	150520179		ARUK-UCL	GO_REF:0000024
DYRK1A	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
DYRK1A	Human	nucleus	located_in	ISS	UniProtKB:Q63470	150520179		UniProt	GO_REF:0000024
DYRK1A	Human	nucleus	located_in	TAS		150520179	PMID:9070862	PINC	PMID:9070862
DYRK1A	Human	nucleus	is_active_in	IBA	MGI:1330299 more ...	150520179		GO_Central	GO_REF:0000033
DYRK1A	Human	nucleus	located_in	IEA	UniProtKB:Q61214 and ensembl:ENSMUSP00000113660	150520179		Ensembl	GO_REF:0000107
DYRK1A	Human	nucleus	located_in	IDA		150520179	PMID:15694837 and PMID:23415227	UniProt	PMID:15694837 and PMID:23415227
DYRK1A	Human	nucleus	is_active_in	IDA		150520179	PMID:25620562	UniProt	PMID:25620562
DYRK1A	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
DYRK1A	Human	ribonucleoprotein complex	part_of	IEA	UniProtKB:Q61214 and ensembl:ENSMUSP00000113660	150520179		Ensembl	GO_REF:0000107

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DYRK1A	Human	actin binding	enables	IPI	UniProtKB:P60709	150520179	PMID:24327345	ARUK-UCL	PMID:24327345
DYRK1A	Human	ATP binding	enables	IEA	UniRule:UR001503341	150520179		UniProt	GO_REF:0000104
DYRK1A	Human	ATP binding	enables	IEA	InterPro:IPR000719 and InterPro:IPR017441	150520179		InterPro	GO_REF:0000002
DYRK1A	Human	ATP binding	enables	IEA	UniProtKB-KW:KW-0067	150520179		UniProt	GO_REF:0000043
DYRK1A	Human	cyclin binding		ISO	Ccnd1 more ...	9068941	rat constructs in human cells	RGD	PMID:27056896 and REF_RGD_ID:401959209
DYRK1A	Human	cytoskeletal protein binding	enables	IPI	UniProtKB:P12036	150520179	PMID:24327345	ARUK-UCL	PMID:24327345
DYRK1A	Human	histone H3T45 kinase activity	enables	IDA		150520179	PMID:24820035	GO_Central	PMID:24820035
DYRK1A	Human	identical protein binding	enables	IEA	UniProtKB:Q61214 and ensembl:ENSMUSP00000113660	150520179		Ensembl	GO_REF:0000107
DYRK1A	Human	identical protein binding	enables	IPI	UniProtKB:Q13627-1	150520179	PMID:23665168	IntAct	PMID:23665168
DYRK1A	Human	kinase activity	enables	IEA	UniProtKB-KW:KW-0418	150520179		UniProt	GO_REF:0000043
DYRK1A	Human	non-membrane spanning protein tyrosine kinase activity	enables	IDA		150520179	PMID:9748265	MGI	PMID:9748265
DYRK1A	Human	nucleotide binding	enables	IEA	UniProtKB-KW:KW-0547	150520179		UniProt	GO_REF:0000043
DYRK1A	Human	nucleotide binding	enables	IEA	UniRule:UR001503341	150520179		UniProt	GO_REF:0000104
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:Q12933	150520179	PMID:30561431	IntAct	PMID:30561431
DYRK1A	Human	protein binding		ISO	RGDID:3717	9068941		RGD	PMID:28755400 and REF_RGD_ID:401959218
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:P06400 more ...	150520179	PMID:32707033	IntAct	PMID:32707033
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:P61962	150520179	PMID:14593110 more ...	IntAct	PMID:14593110 more ...
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:Q5T749	150520179	PMID:32296183	IntAct	PMID:32296183
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:P60709	150520179	PMID:24327345	ARUK-UCL	PMID:24327345
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:Q96S59	150520179	PMID:14500717	UniProt	PMID:14500717
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:Q7Z698 and UniProtKB:Q7Z699	150520179	PMID:20736167	BHF-UCL	PMID:20736167
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:Q92561	150520179	PMID:15694837	UniProt	PMID:15694837
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:P31946	150520179	PMID:17229891	IntAct	PMID:17229891
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:Q12815 and UniProtKB:Q9BRK4	150520179	PMID:26949739	IntAct	PMID:26949739
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:P63167 more ...	150520179	PMID:35914814	IntAct	PMID:35914814
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:P63167	150520179	PMID:35271311	IntAct	PMID:35271311
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:P61962 more ...	150520179	PMID:33961781	IntAct	PMID:33961781
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:O00425 more ...	150520179	PMID:36950384	IntAct	PMID:36950384
DYRK1A	Human	protein binding	enables	IPI	UniProtKB:P06400 more ...	150520179	PMID:23602568	IntAct	PMID:23602568
DYRK1A	Human	protein kinase activity		ISO	Dyrk1a (Rattus norvegicus)	9068941		RGD	PMID:11877424 and REF_RGD_ID:625468
DYRK1A	Human	protein kinase activity	enables	IEA	InterPro:IPR000719 and InterPro:IPR008271	150520179		InterPro	GO_REF:0000002
DYRK1A	Human	protein kinase activity	enables	TAS		150520179	PMID:8769099 and PMID:8975710	PINC	PMID:8769099 and PMID:8975710
DYRK1A	Human	protein serine kinase activity	enables	IEA	RHEA:17989	150520179		RHEA	GO_REF:0000116
DYRK1A	Human	protein serine kinase activity	enables	IDA		150520179	PMID:25556849 and PMID:30773093	UniProt	PMID:25556849 and PMID:30773093
DYRK1A	Human	protein serine/threonine kinase activity	enables	IEA	UniProtKB-KW:KW-0723	150520179		UniProt	GO_REF:0000043
DYRK1A	Human	protein serine/threonine kinase activity	enables	IBA	FB:FBgn0027587 more ...	150520179		GO_Central	GO_REF:0000033
DYRK1A	Human	protein serine/threonine kinase activity	enables	ISS	UniProtKB:Q61214 and UniProtKB:Q63470	150520179		UniProt	GO_REF:0000024
DYRK1A	Human	protein serine/threonine kinase activity	enables	IEA	UniProtKB:Q61214 and ensembl:ENSMUSP00000113660	150520179		Ensembl	GO_REF:0000107
DYRK1A	Human	protein serine/threonine kinase activity	enables	TAS		150520179	PMID:8769099	PINC	PMID:8769099 and Reactome:R-HSA-1362270
DYRK1A	Human	protein serine/threonine kinase activity	enables	IGI	UniProtKB:Q61214	150520179	PMID:17906291	ARUK-UCL	PMID:17906291
DYRK1A	Human	protein serine/threonine kinase activity	enables	NAS		150520179	PMID:28386764	ARUK-UCL	PMID:28386764
DYRK1A	Human	protein serine/threonine kinase activity	enables	ISS	UniProtKB:Q61214	150520179	PMID:20736167	BHF-UCL	PMID:20736167
DYRK1A	Human	protein serine/threonine/tyrosine kinase activity	enables	IEA	EC:2.7.12.1	150520179		UniProt	GO_REF:0000003
DYRK1A	Human	protein serine/threonine/tyrosine kinase activity	enables	IEA	InterPro:IPR044131	150520179		InterPro	GO_REF:0000002
DYRK1A	Human	protein tyrosine kinase activity	enables	ISS	UniProtKB:Q63470	150520179		UniProt	GO_REF:0000024
DYRK1A	Human	protein tyrosine kinase activity	enables	IEA	RHEA:10596	150520179		RHEA	GO_REF:0000116
DYRK1A	Human	protein tyrosine kinase activity	enables	IEA	UniProtKB-KW:KW-0829	150520179		UniProt	GO_REF:0000043
DYRK1A	Human	RNA polymerase II CTD heptapeptide repeat kinase activity	enables	IDA		150520179	PMID:25620562 and PMID:29849146	UniProt	PMID:25620562 and PMID:29849146
DYRK1A	Human	RNA polymerase II CTD heptapeptide repeat kinase activity	enables	IEA	RHEA:10216	150520179		RHEA	GO_REF:0000116
DYRK1A	Human	splicing factor binding	enables	ISS	UniProtKB:Q63470	150520179		ARUK-UCL	GO_REF:0000024
DYRK1A	Human	tau protein binding	enables	NAS		150520179	PMID:28386764	ARUK-UCL	PMID:28386764
DYRK1A	Human	tau protein binding	enables	IPI	UniProtKB:P10636	150520179	PMID:25556849	ARUK-UCL	PMID:25556849
DYRK1A	Human	tau protein binding	enables	IEA	UniProtKB:Q61214 and ensembl:ENSMUSP00000113660	150520179		Ensembl	GO_REF:0000107
DYRK1A	Human	tau protein binding	enables	ISS	UniProtKB:Q61214	150520179	PMID:17906291 and PMID:20736167	BHF-UCL	PMID:17906291 and PMID:20736167
DYRK1A	Human	transcription coactivator activity	enables	IBA	PANTHER:PTN000624548 and UniProtKB:Q9Y463	150520179		GO_Central	GO_REF:0000033
DYRK1A	Human	transferase activity	enables	IEA	UniProtKB-KW:KW-0808	150520179		UniProt	GO_REF:0000043
DYRK1A	Human	tubulin binding	enables	IPI	UniProtKB:P68366	150520179	PMID:24327345	ARUK-UCL	PMID:24327345

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DYRK1A	Human	Abnormal foot morphology		IAGP		11536538	DNA:haploinsufficiency: :	RGD
DYRK1A	Human	Deeply set eye		IAGP		11076606	DNA:mutations:cds:	RGD
DYRK1A	Human	Delayed speech and language development		IAGP		11536538	DNA:haploinsufficiency: :	RGD
DYRK1A	Human	Delayed speech and language development		IAGP		11076606	DNA:mutations:cds:	RGD
DYRK1A	Human	Feeding difficulties		IAGP		11076606	DNA:mutations:cds:	RGD
DYRK1A	Human	Feeding difficulties in infancy		IAGP		11536538	DNA:haploinsufficiency: :	RGD
DYRK1A	Human	Hypertonia		IAGP		11536538	DNA:haploinsufficiency: :	RGD
DYRK1A	Human	Intrauterine growth retardation		IAGP		11536538	DNA:haploinsufficiency: :	RGD
DYRK1A	Human	Microcephaly		IAGP		11536538	DNA:haploinsufficiency: :	RGD
DYRK1A	Human	Microcephaly		IAGP		11076606	DNA:mutations:cds:	RGD
DYRK1A	Human	Motor stereotypy		IAGP		11536538	DNA:haploinsufficiency: :	RGD
DYRK1A	Human	Motor stereotypy		IAGP		11076606	DNA:mutations:cds:	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DYRK1A	Human	2-4 toe cutaneous syndactyly		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Abnormal axial skeleton morphology		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Abnormal brainstem morphology		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Abnormal facial shape		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Abnormal facial shape		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Abnormal foot morphology		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Abnormal heart morphology		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Abnormal optic chiasm morphology		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Abnormal pulmonary valve morphology		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Abnormal toe morphology		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Abnormality of neuronal migration		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Abnormality of the cervical spine		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Abnormality of the endocrine system		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Abnormality of the eye		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Abnormality of the genitourinary system		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Abnormality of vision		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Absent speech		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Absent speech		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Aggressive behavior		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Amblyopia		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Ankle flexion contracture		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Anxiety		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Anxiety		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Aortic regurgitation		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Aortic regurgitation		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Aortic valve stenosis		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Aortic valve stenosis		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Astigmatism		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Astigmatism		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Ataxia		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Ataxia		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Atonic seizure		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Attention deficit hyperactivity disorder		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Atypical behavior		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Autism		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Autistic behavior		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Autistic behavior		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Bilateral tonic-clonic seizure		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Bilateral tonic-clonic seizure		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Birth length less than 3rd percentile		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Birth length less than 3rd percentile		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Brain imaging abnormality		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Brain imaging abnormality		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Breast aplasia		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Broad chin		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Broad nasal tip		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Broad-based gait		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Bulbous nose		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Cataract		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Cerebral cortical atrophy		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Cerebral cortical atrophy		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Cerebral cortical atrophy		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Chordee		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Cleft soft palate		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	CNS hypomyelination		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Congenital onset		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Constipation		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Corneal opacity		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Cryptorchidism		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Cryptorchidism		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Decreased response to growth hormone stimulation test		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Deeply set eye		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Deeply set eye		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Deeply set eye		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Delayed speech and language development		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Delayed speech and language development		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Dilatation of the renal pelvis		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Downslanted palpebral fissures		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Downturned corners of mouth		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Duodenal atresia		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Dysphagia		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Enlarged cisterna magna		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Esotropia		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Exotropia		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Failure to thrive		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Failure to thrive in infancy		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Failure to thrive in infancy		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Febrile seizure (within the age range of 3 months to 6 years)		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Febrile seizure (within the age range of 3 months to 6 years)		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Feeding difficulties		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Feeding difficulties		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Feeding difficulties		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Feeding difficulties in infancy		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Flexion contracture of finger		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Gait disturbance		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Gait disturbance		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Gait disturbance		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Gastroesophageal reflux		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Gastroesophageal reflux		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Generalized hypotonia		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Generalized myoclonic seizure		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Gliosis		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Global developmental delay		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Global developmental delay		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Global developmental delay		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Hallux valgus		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Hallux valgus		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Happy demeanor		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Hearing impairment		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Hydronephrosis		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Hydronephrosis		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Hyperactivity		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Hypermetropia		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Hypermetropia		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Hypertonia		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Hypoplasia of the brainstem		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Hypoplasia of the corpus callosum		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Hypoplasia of the corpus callosum		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Hypospadias		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Hypospadias		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Hypotelorism		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Hypothyroidism		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Inappropriate laughter		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Incoordination		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Infantile onset		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Inguinal hernia		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Intellectual disability		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Intellectual disability		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Intellectual disability, mild		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Intellectual disability, severe		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Intrauterine growth retardation		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Intrauterine growth retardation		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Intrauterine growth retardation		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Iris coloboma		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Kyphosis		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Kyphosis		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Limb hypertonia		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Long face		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Low-set ears		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Macrotia		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Microcephaly		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Microcephaly		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Microcephaly		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Micrognathia		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Micropenis		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Micropenis		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Motor delay		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Motor stereotypy		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Motor stereotypy		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Myopia		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Myopia		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Narrow forehead		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Narrow forehead		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Nasogastric tube feeding in infancy		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Oligohydramnios		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Oligohydramnios		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Optic atrophy		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Optic disc pallor		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Osteochondrosis		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Patent ductus arteriosus		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Patent ductus arteriosus		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Pectus excavatum		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Pectus excavatum		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Pectus excavatum		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Pelvic kidney		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Polydactyly		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Polyhydramnios		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Poor speech		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Poor suck		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Posterior pituitary hypoplasia		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Posterior pituitary hypoplasia		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Premature thelarche		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Primary microcephaly		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Prominent nasal bridge		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Prominent nasal bridge		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Prominent nasal bridge		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Prominent occiput		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Protruding ear		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Protruding ear		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Pyloric stenosis		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Recurrent infections		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Recurrent infections		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Recurrent otitis media		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Recurrent urinary tract infections		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Renal cyst		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Retinal detachment		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Retinal detachment		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Retrognathia		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Sacral dimple		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Sacral dimple		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Scoliosis		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Scoliosis		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Secondary microcephaly		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Seizure		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Seizure		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Seizure		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Severe global developmental delay		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Shawl scrotum		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Short 5th toe		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Short foot		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Short nose		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Short stature		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Short stature		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Short toe		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Simple febrile seizure		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Sleep abnormality		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Small for gestational age		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Small for gestational age		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Small for gestational age		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Smooth philtrum		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Stereotypical hand wringing		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Stereotypical hand wringing		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Strabismus		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Strabismus		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Supernumerary tooth		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Tapered finger		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Tapered finger		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Tapered finger		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Thick lower lip vermilion		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Thickened helices		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Thin corpus callosum		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Thin upper lip vermilion		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Tongue thrusting		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Typical absence seizure		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Underdeveloped nasal alae		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Unilateral renal agenesis		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Unilateral renal agenesis		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Upslanted palpebral fissure		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Ventricular septal defect		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Ventricular septal defect		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Ventriculomegaly		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Ventriculomegaly		IAGP		8699517		HPO	ORPHA:268261
DYRK1A	Human	Ventriculomegaly		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Vomiting		IAGP		8699517		HPO	ORPHA:464311
DYRK1A	Human	Widely spaced teeth		IAGP		8699517		HPO	MIM:614104
DYRK1A	Human	Widely spaced teeth		IAGP		8699517		HPO	ORPHA:268261

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DYRK1A	Human	Autistic behavior		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism spectrum disorders	ClinVar	PMID:25741868 more ...
DYRK1A	Human	Deeply set eye		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Enophthalmos	ClinVar	PMID:25326635 more ...
DYRK1A	Human	Deeply set eye		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Enophthalmos	ClinVar	PMID:25741868 more ...
DYRK1A	Human	Deeply set eye		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Enophthalmos	ClinVar	PMID:25167861 more ...
DYRK1A	Human	Deeply set eye		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Enophthalmos	ClinVar	PMID:18414213 and PMID:39825153
DYRK1A	Human	Feeding difficulties		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Feeding difficulties	ClinVar	PMID:25326635 more ...
DYRK1A	Human	Feeding difficulties		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Feeding difficulties	ClinVar	PMID:25741868 more ...
DYRK1A	Human	Feeding difficulties		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Feeding difficulties	ClinVar	PMID:25167861 more ...
DYRK1A	Human	Generalized-onset seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Generalized-onset seizure	ClinVar	PMID:25167861 more ...
DYRK1A	Human	Global developmental delay		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25741868
DYRK1A	Human	Global developmental delay		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25167861 more ...
DYRK1A	Human	Global developmental delay		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25741868 and PMID:25741883
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25326635 more ...
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 more ...
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:34345024
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:23099646 more ...
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25167861 more ...
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 more ...
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:18414213 and PMID:39825153
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nonprogressive mental retardation	ClinVar	PMID:24088041 more ...
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:17576681 more ...
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 and PMID:25920557
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 and PMID:28492532
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nonprogressive mental retardation	ClinVar	PMID:25741868 and PMID:28492532
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
DYRK1A	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 more ...
DYRK1A	Human	Microcephaly		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microcephaly	ClinVar	PMID:25326635 more ...
DYRK1A	Human	Microcephaly		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microcephaly	ClinVar	PMID:25741868 more ...
DYRK1A	Human	Microcephaly		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microcephaly	ClinVar	PMID:25167861 more ...
DYRK1A	Human	Microcephaly		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microcephaly	ClinVar	PMID:18414213 and PMID:39825153
DYRK1A	Human	Microphthalmia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microphthalmia	ClinVar	PMID:25167861 more ...
DYRK1A	Human	Seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures	ClinVar	PMID:25741868 and PMID:25920557
DYRK1A	Human	Seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25741868 more ...
DYRK1A	Human	Seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:25326635 more ...
DYRK1A	Human	Seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizure	ClinVar	PMID:18414213 and PMID:39825153
DYRK1A	Human	Seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures	ClinVar
DYRK1A	Human	Seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures	ClinVar
DYRK1A	Human	Seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures	ClinVar
DYRK1A	Human	Seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Seizures	ClinVar

#	Reference Title	Reference Citation
1.	Normalization of Dyrk1A expression by AAV2/1-shDyrk1A attenuates hippocampal-dependent defects in the Ts65Dn mouse model of Down syndrome.	Altafaj X, etal., Neurobiol Dis. 2013 Apr;52:117-27. doi: 10.1016/j.nbd.2012.11.017. Epub 2012 Dec 5.
2.	Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.	Bronicki LM, etal., Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29.id: 24774285 Error occurred: The following PMID is not available: 24774285
3.	Dynamin is a minibrain kinase/dual specificity Yak1-related kinase 1A substrate.	Chen-Hwang MC, etal., J Biol Chem 2002 May 17;277(20):17597-604.
4.	Normalizing the gene dosage of Dyrk1A in a mouse model of Down syndrome rescues several Alzheimer's disease phenotypes.	García-Cerro S, etal., Neurobiol Dis. 2017 Oct;106:76-88. doi: 10.1016/j.nbd.2017.06.010. Epub 2017 Jun 21.
5.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
6.	Involvement of the dual-specificity tyrosine phosphorylation-regulated kinase 1A-alternative splicing factor-calcium/calmodulin-dependent protein kinase IIdelta signaling pathway in myocardial infarction-induced heart failure of rats.	He J, etal., J Card Fail. 2015 Sep;21(9):751-60. doi: 10.1016/j.cardfail.2015.05.015. Epub 2015 Jun 9.
7.	Dyrk1a regulates the cardiomyocyte cell cycle via D-cyclin-dependent Rb/E2f-signalling.	Hille S, etal., Cardiovasc Res. 2016 Jun 1;110(3):381-94. doi: 10.1093/cvr/cvw074. Epub 2016 Apr 7.
8.	KEGG: Kyoto Encyclopedia of Genes and Genomes	KEGG
9.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
10.	Hyperhomocysteinemia-induced Dyrk1a downregulation results in cardiomyocyte hypertrophy in rats.	Raaf L, etal., Int J Cardiol. 2010 Nov 19;145(2):306-307. doi: 10.1016/j.ijcard.2009.10.043. Epub 2009 Nov 10.
11.	DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures.	Raveau M, etal., Neurobiol Dis. 2018 Feb;110:180-191. doi: 10.1016/j.nbd.2017.12.003. Epub 2017 Dec 6.
12.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
14.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15.	Increased dosage of Dyrk1A alters alternative splicing factor (ASF)-regulated alternative splicing of tau in Down syndrome.	Shi J, etal., J Biol Chem. 2008 Oct 17;283(42):28660-9. doi: 10.1074/jbc.M802645200. Epub 2008 Jul 24.
16.	Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.	van Bon BW, etal., Mol Psychiatry. 2016 Jan;21(1):126-32. doi: 10.1038/mp.2015.5. Epub 2015 Feb 24.
17.	The role of overexpressed DYRK1A protein in the early onset of neurofibrillary degeneration in Down syndrome.	Wegiel J, etal., Acta Neuropathol. 2008 Oct;116(4):391-407. doi: 10.1007/s00401-008-0419-6. Epub 2008 Aug 12.
18.	Dyrk1A-ASF-CaMKIIδ Signaling Is Involved in Valsartan Inhibition of Cardiac Hypertrophy in Renovascular Hypertensive Rats.	Yao J, etal., Cardiology. 2016;133(3):198-204. doi: 10.1159/000441695. Epub 2015 Dec 1.
19.	[Metoprolol attenuates pressure overload-induced myocardial hypertrophy through modulating Dryk1A-ASF-CaMKIIδ signaling pathways].	Yao J, etal., Zhonghua Xin Xue Guan Bing Za Zhi. 2013 Dec;41(12):1029-33.

PMID:8274451	PMID:8769099	PMID:8872470	PMID:8975710	PMID:9037601	PMID:9048932	PMID:9284911	PMID:9503011	PMID:9503019	PMID:9748265	PMID:9784410	PMID:10329007
PMID:10644696	PMID:10830953	PMID:11311120	PMID:11311121	PMID:12138125	PMID:12477932	PMID:12576186	PMID:12799418	PMID:12964950	PMID:14500717	PMID:14593110	PMID:14623875
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PMID:18231969	PMID:18366763	PMID:18405873	PMID:18468476	PMID:18509201	PMID:18678649	PMID:18729074	PMID:18771760	PMID:19016842	PMID:19081073	PMID:19242551	PMID:19322201
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PMID:21126318	PMID:21135538	PMID:21156027	PMID:21156028	PMID:21157379	PMID:21205194	PMID:21215488	PMID:21252229	PMID:21294719	PMID:21364930	PMID:21498570	PMID:21498571
PMID:21637297	PMID:21777625	PMID:21832049	PMID:21873635	PMID:21878370	PMID:21965663	PMID:22110360	PMID:22154664	PMID:22269890	PMID:22354171	PMID:22495309	PMID:22658674
PMID:22669612	PMID:22765017	PMID:22767602	PMID:22792062	PMID:22876196	PMID:22990118	PMID:23099646	PMID:23124096	PMID:23147510	PMID:23360763	PMID:23382691	PMID:23415227
PMID:23455922	PMID:23512985	PMID:23602568	PMID:23635774	PMID:23665168	PMID:23948904	PMID:24119401	PMID:24152332	PMID:24327345	PMID:24710276	PMID:24801365	PMID:24806449
PMID:24820035	PMID:24901999	PMID:24981860	PMID:25116835	PMID:25281560	PMID:25342745	PMID:25556849	PMID:25609649	PMID:25620562	PMID:25641759	PMID:25918155	PMID:25921289
PMID:25944381	PMID:25963095	PMID:26137545	PMID:26137553	PMID:26186194	PMID:26412716	PMID:26496610	PMID:26496802	PMID:26534959	PMID:26641855	PMID:26673895	PMID:26677511
PMID:26735018	PMID:26760575	PMID:26831064	PMID:26922654	PMID:26949739	PMID:26972000	PMID:27085534	PMID:27100087	PMID:27173435	PMID:27307198	PMID:27546826	PMID:27705803
PMID:27796319	PMID:27807027	PMID:28053047	PMID:28167836	PMID:28235034	PMID:28325877	PMID:28377597	PMID:28386764	PMID:28514442	PMID:28561026	PMID:28632203	PMID:28718761
PMID:28735864	PMID:28884684	PMID:29021890	PMID:29034068	PMID:29117863	PMID:29127398	PMID:29179659	PMID:29180619	PMID:29395067	PMID:29507755	PMID:29509190	PMID:29742440
PMID:29773344	PMID:29844126	PMID:29849146	PMID:30104380	PMID:30137413	PMID:30206359	PMID:30343272	PMID:30344098	PMID:30496304	PMID:30501876	PMID:30503061	PMID:30561431
PMID:30649339	PMID:30773093	PMID:30885273	PMID:30910997	PMID:30979931	PMID:31024071	PMID:31086297	PMID:31091453	PMID:31201803	PMID:31454149	PMID:31470122	PMID:31527615
PMID:31586073	PMID:31683476	PMID:31821176	PMID:31852782	PMID:32296183	PMID:32555303	PMID:32587776	PMID:32640193	PMID:32687947	PMID:32694731	PMID:32707033	PMID:32870330
PMID:33159716	PMID:33380426	PMID:33500384	PMID:33562844	PMID:33624935	PMID:33658012	PMID:33924599	PMID:33961781	PMID:34033760	PMID:34090874	PMID:34117217	PMID:34147560
PMID:34205123	PMID:34244565	PMID:34255829	PMID:34257281	PMID:34309232	PMID:34316707	PMID:34345024	PMID:34352340	PMID:34654719	PMID:34785661	PMID:34969768	PMID:35016035
PMID:35165364	PMID:35194165	PMID:35208955	PMID:35220406	PMID:35271311	PMID:35559673	PMID:35563538	PMID:35748872	PMID:35831314	PMID:35914814	PMID:35925681	PMID:36012629
PMID:36215168	PMID:36538041	PMID:36736316	PMID:36830653	PMID:36931259	PMID:36950384	PMID:36990324	PMID:37059091	PMID:37301510	PMID:37310920	PMID:37451904	PMID:37497568
PMID:37499664	PMID:37607329	PMID:37802655	PMID:37906251	PMID:38099687	PMID:38254631	PMID:38270169	PMID:38326439	PMID:38461326	PMID:38622540	PMID:38663682	PMID:38966995
PMID:39405283	PMID:39436397

DYRK1A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	21	37,365,573 - 37,526,358 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	21	37,365,573 - 37,526,358 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	21	38,737,875 - 38,898,660 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	21	37,661,729 - 37,809,549 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	21	37,714,470 - 37,809,347	NCBI
Celera	21	23,938,247 - 24,086,068 (+)	NCBI		Celera
Cytogenetic Map	21	q22.13	NCBI
HuRef	21	24,215,875 - 24,363,782 (+)	NCBI		HuRef
CHM1_1	21	38,301,002 - 38,448,854 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	21	35,747,888 - 35,908,739 (+)	NCBI		T2T-CHM13v2.0

Dyrk1a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	16	94,370,770 - 94,496,378 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	16	94,370,869 - 94,496,376 (+)	Ensembl		GRCm39 Ensembl
GRCm38	16	94,569,947 - 94,695,519 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	16	94,570,010 - 94,695,517 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	16	94,791,813 - 94,917,126 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	16	94,720,258 - 94,801,189 (+)	NCBI		MGSCv36	mm8
Celera	16	95,699,096 - 95,783,175 (+)	NCBI		Celera
Cytogenetic Map	16	C4	NCBI
cM Map	16	55.3	NCBI

Dyrk1a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	11	47,360,824 - 47,479,033 (+)	NCBI		GRCr8
mRatBN7.2	11	33,890,706 - 34,009,420 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	11	33,890,490 - 34,009,420 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	11	42,573,541 - 42,666,554 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	11	35,244,902 - 35,337,921 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	11	34,390,728 - 34,483,971 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	11	34,858,339 - 34,958,733 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	11	34,865,532 - 34,956,536 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	11	38,453,019 - 38,550,512 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	11	34,879,733 - 34,970,998 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	11	34,935,975 - 35,027,241 (+)	NCBI
Celera	11	34,444,072 - 34,535,020 (-)	NCBI		Celera
Cytogenetic Map	11	q11	NCBI

Dyrk1a
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955407	36,453,098 - 36,589,382 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955407	36,456,628 - 36,588,940 (+)	NCBI	ChiLan1.0	ChiLan1.0

DYRK1A
(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	22	33,475,597 - 33,629,787 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	21	28,339,782 - 28,489,307 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	21	23,729,204 - 23,878,820 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	21	37,092,172 - 37,231,916 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	21	37,137,253 - 37,231,987 (+)	Ensembl	panpan1.1		panPan2

DYRK1A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	31	32,564,970 - 32,655,232 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	31	32,511,502 - 32,652,572 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	31	31,572,154 - 31,719,378 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	31	31,812,898 - 31,959,979 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	31	31,811,351 - 31,960,042 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	31	31,682,502 - 31,829,001 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	31	31,695,751 - 31,842,602 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	31	32,186,102 - 32,332,696 (+)	NCBI		UU_Cfam_GSD_1.0

Dyrk1a
(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_024404971	32,044,360 - 32,150,716 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936500	5,316,164 - 5,404,353 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936500	5,317,109 - 5,423,593 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DYRK1A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	201,009,480 - 201,159,948 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	201,008,506 - 201,159,946 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	211,096,538 - 211,247,962 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

DYRK1A
(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	2	81,318,509 - 81,467,227 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	81,425,902 - 81,467,677 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	9,164,197 - 9,315,412 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Dyrk1a
(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_004624745	26,180,864 - 26,315,234 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624745	26,180,858 - 26,316,848 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in DYRK1A
979 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001347721.2(DYRK1A):c.300+846A>G	single nucleotide variant	Global developmental delay [RCV001526589]	Chr21:37479146 [GRCh38] Chr21:38851448 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.2216C>T (p.Ser739Phe)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000543371]	Chr21:37512482 [GRCh38] Chr21:38884785 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.187C>T (p.Gln63Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002250650]\|not provided [RCV000520960]	Chr21:37472860 [GRCh38] Chr21:38845162 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1444A>C (p.Asn482His)	single nucleotide variant	not provided [RCV000523186]	Chr21:37505514 [GRCh38] Chr21:38877817 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.11-9T>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001425151]	Chr21:37472675 [GRCh38] Chr21:38844977 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.348C>T (p.Asp116=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000560132]\|Inborn genetic diseases [RCV002316571]\|not provided [RCV001576928]	Chr21:37480685 [GRCh38] Chr21:38852987 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.143_144del (p.Ile48fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV000032822]	Chr21:37472815..37472816 [GRCh38] Chr21:38845117..38845118 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1071+1G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000032823]	Chr21:37493164 [GRCh38] Chr21:38865466 [GRCh37] Chr21:21q22.13	pathogenic
DYRK1A, 1-BP DEL, C	deletion	Mental retardation, autosomal dominant 7 [RCV000032824]	Chr21:21q22.1	pathogenic
DYRK1A, 2-BP DEL, 290CT	deletion	Mental retardation, autosomal dominant 7 [RCV000032825]	Chr21:21q22.1	pathogenic
NC_000021.7:g.37796500_37849000del	deletion	DYRK1A-related intellectual disability syndrome [RCV000023041]	Chr21:38874630..38927130 [GRCh37] Chr21:37796500..37849000 [NCBI36] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.201_204del (p.Asn68fs)	microsatellite	DYRK1A-related intellectual disability syndrome [RCV000735221]	Chr21:37472869..37472872 [GRCh38] Chr21:38845171..38845174 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.284dup (p.Tyr95Ter)	duplication	DYRK1A-related intellectual disability syndrome [RCV000543161]	Chr21:37478283..37478284 [GRCh38] Chr21:38850585..38850586 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1264A>G (p.Thr422Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001213397]\|not provided [RCV000518934]	Chr21:37505334 [GRCh38] Chr21:38877637 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.208-38G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001855223]\|not provided [RCV001697944]	Chr21:37478170 [GRCh38] Chr21:38850472 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.940C>T (p.Gln314Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003640906]\|not provided [RCV000521035]	Chr21:37493032 [GRCh38] Chr21:38865334 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.2224A>T (p.Thr742Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000559202]\|Inborn genetic diseases [RCV004024202]\|not provided [RCV001722507]	Chr21:37512490 [GRCh38] Chr21:38884793 [GRCh37] Chr21:21q22.13	benign\|likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.187C>G (p.Gln63Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001857986]\|not provided [RCV000523249]	Chr21:37472860 [GRCh38] Chr21:38845162 [GRCh37] Chr21:21q22.13	uncertain significance
NC_000021.8:g.(?_38792657)_(38884854_?)dup	duplication	DYRK1A-related intellectual disability syndrome [RCV000545451]	Chr21:38792657..38884854 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.638-9_638-5del	deletion	DYRK1A-related intellectual disability syndrome [RCV000576181]\|Intellectual disability [RCV001260680]\|See cases [RCV003156105]\|not provided [RCV001268095]	Chr21:37490164..37490168 [GRCh38] Chr21:38862466..38862470 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.641A>G (p.His214Arg)	single nucleotide variant	not provided [RCV001696925]	Chr21:37490178 [GRCh38] Chr21:38862480 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000050445]	Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	copy number loss	See cases [RCV000051047]	Chr21:37135738..42434515 [GRCh38] Chr21:38508038..43854625 [GRCh37] Chr21:37429908..42727694 [NCBI36] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1	copy number loss	See cases [RCV000052807]	Chr21:35527952..44298520 [GRCh37] Chr21:34449822..43171589 [NCBI36] Chr21:21q22.1-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]\|See cases [RCV000052836]	Chr21:35027972..46670405 [GRCh38] Chr21:36400269..48090317 [GRCh37] Chr21:35322139..46914745 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21q22.13-22.2(chr21:37408770-38645794)x1	copy number loss	See cases [RCV000052837]	Chr21:37408770..38645794 [GRCh38] Chr21:38781072..40017718 [GRCh37] Chr21:37702942..38939588 [NCBI36] Chr21:21q22.13-22.2	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053042]	Chr21:7749532..46623792 [GRCh38] Chr21:14595524..48043704 [GRCh37] Chr21:13517395..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053043]	Chr21:7749532..46623792 [GRCh38] Chr21:14629063..48043704 [GRCh37] Chr21:13550934..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3	copy number gain	See cases [RCV000053045]	Chr21:7749532..46670546 [GRCh38] Chr21:15499647..48090458 [GRCh37] Chr21:14421518..46914886 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	copy number gain	See cases [RCV000053065]	Chr21:7749532..46661140 [GRCh38] Chr21:15499647..48081052 [GRCh37] Chr21:14421518..46905480 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	copy number gain	See cases [RCV000053067]	Chr21:7749532..46661140 [GRCh38] Chr21:15499847..48081052 [GRCh37] Chr21:14421718..46905480 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000053068]	Chr21:7749532..46670405 [GRCh38] Chr21:20655360..48090317 [GRCh37] Chr21:19577231..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000053069]	Chr21:7749532..46670405 [GRCh38] Chr21:34423268..48090317 [GRCh37] Chr21:33345138..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053039]	Chr21:7749532..46623792 [GRCh38] Chr21:14524963..48043704 [GRCh37] Chr21:13446834..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3	copy number gain	See cases [RCV000053071]	Chr21:36396699..38951223 [GRCh38] Chr21:37768997..40323148 [GRCh37] Chr21:36690867..39245018 [NCBI36] Chr21:21q22.12-22.2	pathogenic
GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3	copy number gain	See cases [RCV000053072]	Chr21:36712503..37408829 [GRCh38] Chr21:38084803..38781131 [GRCh37] Chr21:37006673..37703001 [NCBI36] Chr21:21q22.13	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	copy number gain	See cases [RCV000053040]	Chr21:7749532..46653090 [GRCh38] Chr21:14539679..48073002 [GRCh37] Chr21:13461550..46897430 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
NM_001347721.2(DYRK1A):c.508C>T (p.Arg170Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001034007]	Chr21:37486485 [GRCh38] Chr21:38858787 [GRCh37] Chr21:37780657 [NCBI36] Chr21:21q22.13	likely benign\|not provided
NM_001396.3(DYRK1A):c.2036C>T (p.Ala679Val)	single nucleotide variant	Malignant melanoma [RCV000072832]	Chr21:37512275 [GRCh38] Chr21:38884578 [GRCh37] Chr21:37806448 [NCBI36] Chr21:21q22.13	not provided
NM_001347721.2(DYRK1A):c.2013C>A (p.Tyr671Ter)	single nucleotide variant	not provided [RCV000657796]	Chr21:37512279 [GRCh38] Chr21:38884582 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1010C>T (p.Ser337Phe)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000601140]	Chr21:37493102 [GRCh38] Chr21:38865404 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1951del (p.Ser651fs)	deletion	Intellectual disability [RCV001507304]	Chr21:37512216 [GRCh38] Chr21:38884519 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.887T>G (p.Ile296Arg)	single nucleotide variant	Intellectual disability [RCV001507327]	Chr21:37490424 [GRCh38] Chr21:38862726 [GRCh37] Chr21:21q22.13	likely pathogenic
GRCh37/hg19 21q22.13-22.2(chr21:38741104..40274106)	copy number loss	DYRK1A-related intellectual disability syndrome [RCV000190475]	Chr21:38741104..40274106 [GRCh37] Chr21:21q22.13-22.2	pathogenic
GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526)	copy number loss	DYRK1A-related intellectual disability syndrome [RCV000190476]	Chr21:37839410..41427526 [GRCh37] Chr21:21q22.13-22.2	pathogenic
NM_001347721.2(DYRK1A):c.285C>G (p.Tyr95Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000190477]	Chr21:37478285 [GRCh38] Chr21:38850587 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter)	single nucleotide variant	DYRK1A-related disorder [RCV001731507]\|DYRK1A-related intellectual disability syndrome [RCV000190479]\|not provided [RCV000522958]	Chr21:37505442 [GRCh38] Chr21:38877745 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.434del (p.Lys145fs)	deletion	Complex neurodevelopmental disorder [RCV001265238]\|DYRK1A-related intellectual disability syndrome [RCV000190480]	Chr21:37480768 [GRCh38] Chr21:38853070 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1074_1077del (p.Asp359fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV000190481]	Chr21:37496119..37496122 [GRCh38] Chr21:38868421..38868424 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV000190482]\|Inborn genetic diseases [RCV000622723]\|not provided [RCV001281604]	Chr21:37480756..37480757 [GRCh38] Chr21:38853058..38853059 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.536A>T (p.Lys179Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000190483]	Chr21:37486513 [GRCh38] Chr21:38858815 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000190484]	Chr21:37490244 [GRCh38] Chr21:38862546 [GRCh37] Chr21:21q22.13	likely pathogenic\|conflicting interpretations of pathogenicity
NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000190485]\|not provided [RCV000255647]	Chr21:37490393 [GRCh38] Chr21:38862695 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.924+2T>A	single nucleotide variant	not provided [RCV001291548]	Chr21:37490463 [GRCh38] Chr21:38862765 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1714A>C (p.Thr572Pro)	single nucleotide variant	not specified [RCV001194245]	Chr21:37511980 [GRCh38] Chr21:38884283 [GRCh37] Chr21:21q22.13	uncertain significance
GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1	copy number loss	See cases [RCV000133619]	Chr21:35772177..38558509 [GRCh38] Chr21:37144475..39930433 [GRCh37] Chr21:36066345..38852303 [NCBI36] Chr21:21q22.12-22.2	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	copy number gain	See cases [RCV000133676]	Chr21:7749532..42971047 [GRCh38] Chr21:15499847..44391157 [GRCh37] Chr21:14421718..43264226 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	copy number gain	See cases [RCV000134727]	Chr21:7749532..46653084 [GRCh38] Chr21:15485038..48072996 [GRCh37] Chr21:14406909..46897424 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	copy number gain	See cases [RCV000134509]	Chr21:7749532..46649831 [GRCh38] Chr21:14577835..48069743 [GRCh37] Chr21:13499706..46894171 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	copy number gain	See cases [RCV000134119]	Chr21:7749532..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	copy number gain	See cases [RCV000135310]	Chr21:7749532..46670346 [GRCh38] Chr21:34111831..48090258 [GRCh37] Chr21:33033702..46914686 [NCBI36] Chr21:21q22.11-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	copy number gain	See cases [RCV000134972]	Chr21:36206067..46670405 [GRCh38] Chr21:37578365..48090317 [GRCh37] Chr21:36500235..46914745 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	copy number gain	See cases [RCV000134836]	Chr21:7749532..46664250 [GRCh38] Chr21:15485038..48084162 [GRCh37] Chr21:14406909..46908590 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	copy number gain	See cases [RCV000134842]	Chr21:7749532..46670440 [GRCh38] Chr21:15513244..48090352 [GRCh37] Chr21:14435115..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	copy number gain	See cases [RCV000135448]	Chr21:7749532..46660999 [GRCh38] Chr21:15499847..48080911 [GRCh37] Chr21:14421718..46905339 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	copy number loss	See cases [RCV000135412]	Chr21:35543872..39993338 [GRCh38] Chr21:36916169..41365265 [GRCh37] Chr21:35838039..40287135 [NCBI36] Chr21:21q22.12-22.2	pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	copy number gain	See cases [RCV000136142]	Chr21:36519173..46670405 [GRCh38] Chr21:37891471..48090317 [GRCh37] Chr21:36813341..46914745 [NCBI36] Chr21:21q22.13-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	copy number loss	See cases [RCV000136828]	Chr21:34789953..46636538 [GRCh38] Chr21:36162250..48056450 [GRCh37] Chr21:35084120..46880878 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000137255]	Chr21:7749532..46671060 [GRCh38] Chr21:35319225..48090972 [GRCh37] Chr21:34241095..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000137337]	Chr21:7749532..46671060 [GRCh38] Chr21:10697897..48090972 [GRCh37] Chr21:1..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	copy number loss	See cases [RCV000138095]	Chr21:7749532..37653653 [GRCh38] Chr21:15451032..39025955 [GRCh37] Chr21:14372903..37947825 [NCBI36] Chr21:21p11.2-q22.13	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000138216]	Chr21:7749532..46671060 [GRCh38] Chr21:10944001..48090972 [GRCh37] Chr21:9965872..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	copy number gain	See cases [RCV000138164]	Chr21:36066991..46671060 [GRCh38] Chr21:37439289..48090972 [GRCh37] Chr21:36361159..46915400 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000138436]	Chr21:7749532..46671060 [GRCh38] Chr21:15451032..48090972 [GRCh37] Chr21:14372903..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	copy number gain	See cases [RCV000140103]	Chr21:7749532..46670346 [GRCh38] Chr21:14577894..48090258 [GRCh37] Chr21:13499765..46914686 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q22.13(chr21:37364925-37368772)x3	copy number gain	See cases [RCV000139832]	Chr21:37364925..37368772 [GRCh38] Chr21:38737227..38741074 [GRCh37] Chr21:37659097..37662944 [NCBI36] Chr21:21q22.13	uncertain significance
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	copy number gain	See cases [RCV000141346]	Chr21:7749532..46698247 [GRCh38] Chr21:14577835..48118159 [GRCh37] Chr21:13499706..46942587 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000141827]	Chr21:7749532..46677460 [GRCh38] Chr21:28285299..48097372 [GRCh37] Chr21:27207170..46921800 [NCBI36] Chr21:21q21.3-22.3	uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	copy number loss	See cases [RCV000142427]	Chr21:7817158..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000143120]	Chr21:7749532..46677460 [GRCh38] Chr21:15006457..48097372 [GRCh37] Chr21:13928328..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.208-28G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000202627]\|not provided [RCV000658192]\|not specified [RCV000500398]	Chr21:37478180 [GRCh38] Chr21:38850482 [GRCh37] Chr21:21q22.13	benign\|likely benign\|uncertain significance
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000143376]	Chr21:7749532..46677460 [GRCh38] Chr21:15006458..48097372 [GRCh37] Chr21:13928329..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	copy number gain	See cases [RCV000143160]	Chr21:7749532..46677460 [GRCh38] Chr21:14386013..48097372 [GRCh37] Chr21:13307884..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)	single nucleotide variant	Autism spectrum disorder [RCV003126545]\|DYRK1A-related intellectual disability syndrome [RCV000503841]\|Inborn genetic diseases [RCV004019795]\|Intellectual disability [RCV001507325]\|Seizure [RCV000149558]\|not provided [RCV000760477]	Chr21:37490273 [GRCh38] Chr21:38862575 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000190478]\|Feeding difficulties [RCV000149559]\|Global developmental delay [RCV001003637]\|Inborn genetic diseases [RCV001267263]\|Intellectual disability [RCV000224593]\|not provided [RCV000578685]	Chr21:37486563 [GRCh38] Chr21:38858865 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs)	indel	Feeding difficulties [RCV000149560]\|Intellectual disability [RCV000224418]	Chr21:37486571..37486574 [GRCh38] Chr21:38858873..38858876 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1009T>C (p.Ser337Pro)	single nucleotide variant	Seizure [RCV000149561]	Chr21:37493101 [GRCh38] Chr21:38865403 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs)	duplication	Seizure [RCV000149562]	Chr21:37490451..37490452 [GRCh38] Chr21:38862753..38862754 [GRCh37] Chr21:21q22.13	pathogenic
NC_000021.8:g.(?_38007970)_(39747620_?)del	deletion	Seizure [RCV000149563]	Chr21:38007970..39747620 [GRCh37] Chr21:21q22.13-22.2	pathogenic
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)	single nucleotide variant	Complex neurodevelopmental disorder [RCV001265301]\|DYRK1A-related intellectual disability syndrome [RCV000193013]\|Inborn genetic diseases [RCV001267631]\|Seizure [RCV000149564]\|not provided [RCV000413642]	Chr21:37505352 [GRCh38] Chr21:38877655 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs)	duplication	Seizure [RCV000149565]	Chr21:37490353..37490354 [GRCh38] Chr21:38862655..38862656 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000824818]\|Seizure [RCV000149566]	Chr21:37512002 [GRCh38] Chr21:38884305 [GRCh37] Chr21:21q22.13	likely pathogenic\|uncertain significance
NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs)	duplication	Intellectual disability [RCV001260675]\|Seizure [RCV000149567]	Chr21:37496249..37496250 [GRCh38] Chr21:38868551..38868552 [GRCh37] Chr21:21q22.13	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000148131]	Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
NM_001347721.2(DYRK1A):c.426C>T (p.Asn142=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001439455]\|not specified [RCV000193178]	Chr21:37480763 [GRCh38] Chr21:38853065 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1503T>C (p.Ser501=)	single nucleotide variant	not specified [RCV000193846]	Chr21:37505573 [GRCh38] Chr21:38877876 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.489+9A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001081707]\|not provided [RCV000711515]\|not specified [RCV000194378]	Chr21:37480835 [GRCh38] Chr21:38853137 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.300+7C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001465882]\|not specified [RCV000194947]	Chr21:37478307 [GRCh38] Chr21:38850609 [GRCh37] Chr21:21q22.13	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001347721.2(DYRK1A):c.1509G>A (p.Ser503=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001457821]\|not provided [RCV003884386]\|not specified [RCV000195069]	Chr21:37505579 [GRCh38] Chr21:38877882 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001080736]\|Inborn genetic diseases [RCV002314810]\|not provided [RCV000224108]\|not specified [RCV000193270]	Chr21:37512274 [GRCh38] Chr21:38884577 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.2188A>G (p.Met730Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001062582]\|Inborn genetic diseases [RCV003165432]\|not specified [RCV000194127]	Chr21:37512454 [GRCh38] Chr21:38884757 [GRCh37] Chr21:21q22.13	benign\|likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln)	single nucleotide variant	Complex neurodevelopmental disorder [RCV001265307]\|DYRK1A-related intellectual disability syndrome [RCV000191081]\|Intellectual disability [RCV001260679]\|not provided [RCV000434410]	Chr21:37505443 [GRCh38] Chr21:38877746 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.1135dup (p.Ala379fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV000191082]	Chr21:37496180..37496181 [GRCh38] Chr21:38868482..38868483 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.895T>G (p.Phe299Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000192601]	Chr21:37490432 [GRCh38] Chr21:38862734 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1271_1272insT (p.Pro425fs)	insertion	DYRK1A-related intellectual disability syndrome [RCV000194800]	Chr21:37505341..37505342 [GRCh38] Chr21:38877644..38877645 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000209829]\|not provided [RCV000419433]	Chr21:37506191 [GRCh38] Chr21:38878494 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.1311C>T (p.Val437=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000551009]\|Inborn genetic diseases [RCV002384218]\|not provided [RCV001552537]	Chr21:37505381 [GRCh38] Chr21:38877684 [GRCh37] Chr21:21q22.13	likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	copy number loss	See cases [RCV000239948]	Chr21:15538655..48080926 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1519+14_1519+20dup	duplication	not specified [RCV000604656]	Chr21:37505601..37505602 [GRCh38] Chr21:38877904..38877905 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1003dup (p.Met335fs)	duplication	Inborn genetic diseases [RCV000623656]	Chr21:37493094..37493095 [GRCh38] Chr21:38865396..38865397 [GRCh37] Chr21:21q22.13	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	copy number gain	See cases [RCV000240397]	Chr21:15410701..48090317 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.700_702delinsATAGAGGTTGT (p.Tyr234fs)	indel	not provided [RCV000255745]	Chr21:37490237..37490239 [GRCh38] Chr21:38862539..38862541 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.630C>A (p.Tyr210Ter)	single nucleotide variant	Complex neurodevelopmental disorder [RCV001265300]\|DYRK1A-related intellectual disability syndrome [RCV003640883]\|not provided [RCV000256014]	Chr21:37486607 [GRCh38] Chr21:38858909 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1098del (p.Val367fs)	deletion	not provided [RCV000256031]	Chr21:37496143 [GRCh38] Chr21:38868445 [GRCh37] Chr21:21q22.13	pathogenic
GRCh37/hg19 21q22.13(chr21:38808582-38918599)x3	copy number gain	See cases [RCV000240265]	Chr21:38808582..38918599 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1644+73C>A	single nucleotide variant	not provided [RCV001725157]\|not specified [RCV000337264]	Chr21:37506296 [GRCh38] Chr21:38878599 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.987T>G (p.Tyr329Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002519054]\|not provided [RCV000298119]	Chr21:37493079 [GRCh38] Chr21:38865381 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003126661]\|Global developmental delay [RCV001255396]\|not provided [RCV000306377]	Chr21:37490297 [GRCh38] Chr21:38862599 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1351_1354del (p.Leu451fs)	deletion	not provided [RCV000316356]	Chr21:37505419..37505422 [GRCh38] Chr21:38877722..38877725 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1874A>G (p.Asn625Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000800855]\|Inborn genetic diseases [RCV002518988]\|not provided [RCV000348174]	Chr21:37512140 [GRCh38] Chr21:38884443 [GRCh37] Chr21:21q22.13	benign\|likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.341del (p.Gln114fs)	deletion	not provided [RCV000357180]	Chr21:37480678 [GRCh38] Chr21:38852980 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.986_993del (p.Tyr329fs)	deletion	not provided [RCV000390632]	Chr21:37493074..37493081 [GRCh38] Chr21:38865376..38865383 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1071_1071+8del	deletion	not provided [RCV000396015]	Chr21:37493158..37493166 [GRCh38] Chr21:38865460..38865468 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1240C>T (p.Leu414Phe)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001298589]\|not provided [RCV000489519]	Chr21:37505310 [GRCh38] Chr21:38877613 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1155C>T (p.Phe385=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002070397]\|not provided [RCV001564435]	Chr21:37496201 [GRCh38] Chr21:38868503 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1520-2A>G	single nucleotide variant	not provided [RCV000519915]	Chr21:37506097 [GRCh38] Chr21:38878400 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.285C>A (p.Tyr95Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002289712]\|not provided [RCV000521626]	Chr21:37478285 [GRCh38] Chr21:38850587 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.11-17C>T	single nucleotide variant	not specified [RCV000603870]	Chr21:37472667 [GRCh38] Chr21:38844969 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter)	duplication	DYRK1A-related intellectual disability syndrome [RCV000408621]	Chr21:37480785..37480786 [GRCh38] Chr21:38853087..38853088 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1239del (p.Lys413fs)	deletion	Inborn genetic diseases [RCV000624425]	Chr21:37505307 [GRCh38] Chr21:38877610 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.143dup (p.Ser49fs)	duplication	not provided [RCV000598814]	Chr21:37472815..37472816 [GRCh38] Chr21:38845117..38845118 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.542_545del (p.Ile181fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV001867985]\|not provided [RCV000593226]	Chr21:37486517..37486520 [GRCh38] Chr21:38858819..38858822 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.896T>C (p.Phe299Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001175155]\|not provided [RCV000730365]	Chr21:37490433 [GRCh38] Chr21:38862735 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.765_767del (p.Lys255_Phe256delinsAsn)	deletion	not provided [RCV000599515]	Chr21:37490302..37490304 [GRCh38] Chr21:38862604..38862606 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1735A>C (p.Thr579Pro)	single nucleotide variant	DYRK1A-related disorder [RCV004541629]\|DYRK1A-related intellectual disability syndrome [RCV001078788]\|Inborn genetic diseases [RCV002404342]\|not provided [RCV000523864]	Chr21:37512001 [GRCh38] Chr21:38884304 [GRCh37] Chr21:21q22.13	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001347721.2(DYRK1A):c.1213-7C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000533984]\|not provided [RCV001704680]	Chr21:37505276 [GRCh38] Chr21:38877579 [GRCh37] Chr21:21q22.13	benign\|likely benign
NC_000021.8:g.(?_38868400)_(38884854_?)del	deletion	DYRK1A-related intellectual disability syndrome [RCV000558001]	Chr21:38868400..38884854 [GRCh37] Chr21:21q22.13	likely pathogenic\|uncertain significance
NM_001347721.2(DYRK1A):c.1510T>A (p.Ser504Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000539442]	Chr21:37505580 [GRCh38] Chr21:38877883 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.638-2A>G	single nucleotide variant	Intellectual disability [RCV001507309]\|not provided [RCV000413494]	Chr21:37490173 [GRCh38] Chr21:38862475 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.955C>T (p.Arg319Trp)	single nucleotide variant	not provided [RCV004554767]\|not specified [RCV000413543]	Chr21:37493047 [GRCh38] Chr21:38865349 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter)	single nucleotide variant	Complex neurodevelopmental disorder [RCV001265465]\|DYRK1A-related intellectual disability syndrome [RCV000499667]\|Inborn genetic diseases [RCV000623331]\|not provided [RCV000413934]	Chr21:37480659 [GRCh38] Chr21:38852961 [GRCh37] Chr21:21q22.13	pathogenic\|not provided
NM_001347721.2(DYRK1A):c.550_552delinsTTCTT (p.Lys184fs)	indel	not provided [RCV000414435]	Chr21:37486527..37486529 [GRCh38] Chr21:38858829..38858831 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1527A>G (p.Ser509=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000767958]	Chr21:37506106 [GRCh38] Chr21:38878409 [GRCh37] Chr21:21q22.13	conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 21q22.13-22.2(chr21:38176362-41901945)x1	copy number loss	See cases [RCV000449183]	Chr21:38176362..41901945 [GRCh37] Chr21:21q22.13-22.2	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3	copy number gain	See cases [RCV000446716]	Chr21:15006457..43598570 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1	copy number loss	See cases [RCV000446516]	Chr21:38790552..43619940 [GRCh37] Chr21:21q22.13-22.3	pathogenic
NM_001347721.2(DYRK1A):c.489+12G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002062744]\|not specified [RCV000417425]	Chr21:37480838 [GRCh38] Chr21:38853140 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.637+16A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002062409]\|not specified [RCV000417496]	Chr21:37486630 [GRCh38] Chr21:38858932 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1260G>A (p.Val420=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000819560]\|Inborn genetic diseases [RCV002313072]\|not specified [RCV000434282]	Chr21:37505330 [GRCh38] Chr21:38877633 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000536189]\|Inborn genetic diseases [RCV002311484]\|not specified [RCV000437673]	Chr21:37490341 [GRCh38] Chr21:38862643 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.637+10C>A	single nucleotide variant	not specified [RCV000420828]	Chr21:37486624 [GRCh38] Chr21:38858926 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1645-12C>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002522422]\|not specified [RCV000445158]	Chr21:37511899 [GRCh38] Chr21:38884202 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1941A>G (p.Thr647=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001403692]\|not provided [RCV000952163]	Chr21:37512207 [GRCh38] Chr21:38884510 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2085C>G (p.Val695=)	single nucleotide variant	DYRK1A-related disorder [RCV004539872]\|DYRK1A-related intellectual disability syndrome [RCV000542445]\|Inborn genetic diseases [RCV002418311]\|not provided [RCV001698177]\|not specified [RCV001821199]	Chr21:37512351 [GRCh38] Chr21:38884654 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.795T>C (p.Leu265=)	single nucleotide variant	not specified [RCV000418181]	Chr21:37490332 [GRCh38] Chr21:38862634 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1893C>T (p.Ser631=)	single nucleotide variant	not provided [RCV001698187]	Chr21:37512159 [GRCh38] Chr21:38884462 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.925-8T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001522589]\|not provided [RCV001721366]	Chr21:37493009 [GRCh38] Chr21:38865311 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.925-19A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002058997]\|not specified [RCV000438579]	Chr21:37492998 [GRCh38] Chr21:38865300 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.2049T>C (p.Phe683=)	single nucleotide variant	DYRK1A-related disorder [RCV004539832]\|DYRK1A-related intellectual disability syndrome [RCV000530000]\|Inborn genetic diseases [RCV002418279]\|not provided [RCV001697773]	Chr21:37512315 [GRCh38] Chr21:38884618 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1644+101A>G	single nucleotide variant	not specified [RCV000424884]	Chr21:37506324 [GRCh38] Chr21:38878627 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1389T>C (p.Tyr463=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000526983]\|Inborn genetic diseases [RCV002311481]\|not provided [RCV004717584]\|not specified [RCV000428448]	Chr21:37505459 [GRCh38] Chr21:38877762 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.953A>G (p.Tyr318Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000505215]	Chr21:37493045 [GRCh38] Chr21:38865347 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1644+9G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002059827]\|not provided [RCV001721339]	Chr21:37506232 [GRCh38] Chr21:38878535 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1644+18T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002059828]\|not provided [RCV003437195]\|not specified [RCV000432080]	Chr21:37506241 [GRCh38] Chr21:38878544 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1818T>C (p.His606=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000541519]\|Inborn genetic diseases [RCV002411397]\|not provided [RCV001696769]	Chr21:37512084 [GRCh38] Chr21:38884387 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2188A>T (p.Met730Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001055184]\|Inborn genetic diseases [RCV002418283]\|not provided [RCV000435667]	Chr21:37512454 [GRCh38] Chr21:38884757 [GRCh37] Chr21:21q22.13	benign\|likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1071+15G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002062580]\|not specified [RCV000439222]	Chr21:37493178 [GRCh38] Chr21:38865480 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.1539C>T (p.Ser513=)	single nucleotide variant	DYRK1A-related disorder [RCV004533025]\|DYRK1A-related intellectual disability syndrome [RCV000547376]\|Inborn genetic diseases [RCV002318441]\|not provided [RCV000425533]	Chr21:37506118 [GRCh38] Chr21:38878421 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.-16G>A	single nucleotide variant	not specified [RCV000429068]	Chr21:37420359 [GRCh38] Chr21:38792661 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.10+6T>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002521834]\|not specified [RCV000435931]	Chr21:37420390 [GRCh38] Chr21:38792692 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.975G>A (p.Leu325=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002063603]\|not specified [RCV000443215]	Chr21:37493067 [GRCh38] Chr21:38865369 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1401C>T (p.His467=)	single nucleotide variant	not specified [RCV000425560]	Chr21:37505471 [GRCh38] Chr21:38877774 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1608C>T (p.Ala536=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649337]\|Inborn genetic diseases [RCV002393001]\|not provided [RCV001704266]	Chr21:37506187 [GRCh38] Chr21:38878490 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.-37C>T	single nucleotide variant	not specified [RCV000426020]	Chr21:37420338 [GRCh38] Chr21:38792640 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1520-9A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005090879]\|not specified [RCV000426054]	Chr21:37506090 [GRCh38] Chr21:38878393 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.11-15C>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002519562]\|not specified [RCV000436628]	Chr21:37472669 [GRCh38] Chr21:38844971 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.363G>A (p.Lys121=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002062592]\|not provided [RCV001703790]	Chr21:37480700 [GRCh38] Chr21:38853002 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1644+13G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002522356]\|not specified [RCV000443988]	Chr21:37506236 [GRCh38] Chr21:38878539 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.333A>G (p.Gln111=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649331]\|Inborn genetic diseases [RCV002451009]\|not provided [RCV001698210]	Chr21:37480670 [GRCh38] Chr21:38852972 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1365C>A (p.Pro455=)	single nucleotide variant	DYRK1A-related disorder [RCV004737483]\|DYRK1A-related intellectual disability syndrome [RCV001436985]\|not specified [RCV000440590]	Chr21:37505435 [GRCh38] Chr21:38877738 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.905C>T (p.Ser302Phe)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000496117]\|not provided [RCV000438308]	Chr21:37490442 [GRCh38] Chr21:38862744 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala)	single nucleotide variant	DYRK1A-related disorder [RCV004533020]\|DYRK1A-related intellectual disability syndrome [RCV000550099]\|Inborn genetic diseases [RCV002311486]\|not provided [RCV003437180]\|not specified [RCV000433815]	Chr21:37493131 [GRCh38] Chr21:38865433 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.492T>C (p.Val164=)	single nucleotide variant	DYRK1A-related disorder [RCV004539853]\|DYRK1A-related intellectual disability syndrome [RCV000951181]\|Inborn genetic diseases [RCV002318462]\|not provided [RCV001753856]\|not specified [RCV004999401]	Chr21:37486469 [GRCh38] Chr21:38858771 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.1971G>C (p.Ser657=)	single nucleotide variant	not specified [RCV000437353]	Chr21:37512237 [GRCh38] Chr21:38884540 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.234C>T (p.Asp78=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000530714]\|Inborn genetic diseases [RCV002318419]\|not provided [RCV001720153]	Chr21:37478234 [GRCh38] Chr21:38850536 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.208-40C>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002058876]\|not provided [RCV000441772]\|not specified [RCV000479509]	Chr21:37478168 [GRCh38] Chr21:38850470 [GRCh37] Chr21:21q22.13	benign\|likely benign
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3	copy number gain	See cases [RCV000448874]	Chr21:29812033..39282854 [GRCh37] Chr21:21q21.3-22.13	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	copy number gain	See cases [RCV000447884]	Chr21:14771770..48080867 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.270_274del (p.Leu91fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV000417097]	Chr21:37478266..37478270 [GRCh38] Chr21:38850568..38850572 [GRCh37] Chr21:21q22.13	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3	copy number gain	See cases [RCV000448199]	Chr21:15006457..44827632 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3	copy number gain	See cases [RCV000447729]	Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1464del (p.Ala489fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV000417095]	Chr21:37505531 [GRCh38] Chr21:38877834 [GRCh37] Chr21:21q22.13	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	See cases [RCV000447749]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1626C>A (p.Cys542Ter)	single nucleotide variant	Complex neurodevelopmental disorder [RCV001265302]\|not provided [RCV000481279]	Chr21:37506205 [GRCh38] Chr21:38878508 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.1221del (p.Lys407fs)	deletion	Complex neurodevelopmental disorder [RCV001265463]\|not provided [RCV000481604]	Chr21:37505289 [GRCh38] Chr21:38877592 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter)	single nucleotide variant	Complex neurodevelopmental disorder [RCV001265464]\|DYRK1A-related intellectual disability syndrome [RCV000698811]\|Inborn genetic diseases [RCV000622466]\|not provided [RCV000481862]	Chr21:37490201 [GRCh38] Chr21:38862503 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.1445_1446delinsTCTACA (p.Asn482fs)	indel	not provided [RCV000482944]	Chr21:37505515..37505516 [GRCh38] Chr21:38877818..38877819 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.476G>A (p.Gly159Asp)	single nucleotide variant	Inborn genetic diseases [RCV002526665]\|Intellectual disability [RCV001507306]\|not provided [RCV000482962]	Chr21:37480813 [GRCh38] Chr21:38853115 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.947G>A (p.Arg316His)	single nucleotide variant	not provided [RCV000483733]	Chr21:37493039 [GRCh38] Chr21:38865341 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV000032825]\|Intellectual disability [RCV001509579]\|not provided [RCV000483822]	Chr21:37478262..37478263 [GRCh38] Chr21:38850564..38850565 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.-1G>A	single nucleotide variant	not provided [RCV000486007]	Chr21:37420374 [GRCh38] Chr21:38792676 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.208-38_208-35del	deletion	DYRK1A-related intellectual disability syndrome [RCV001865456]\|not specified [RCV000482033]	Chr21:37478167..37478170 [GRCh38] Chr21:38850469..38850472 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.508_513del (p.Arg170_Val171del)	deletion	not provided [RCV000478619]	Chr21:37486485..37486490 [GRCh38] Chr21:38858787..38858792 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.802G>C (p.Ala268Pro)	single nucleotide variant	not provided [RCV000478835]	Chr21:37490339 [GRCh38] Chr21:38862641 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)	deletion	Complex neurodevelopmental disorder [RCV001265303]\|DYRK1A-related intellectual disability syndrome [RCV001251101]\|not provided [RCV000485794]	Chr21:37486520..37486523 [GRCh38] Chr21:38858822..38858825 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000685711]\|Inborn genetic diseases [RCV004975611]\|not provided [RCV000711513]	Chr21:37512028 [GRCh38] Chr21:38884331 [GRCh37] Chr21:21q22.13	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001347721.2(DYRK1A):c.2186_2191delinsAGAG (p.Thr729fs)	indel	not provided [RCV000486329]	Chr21:37512452..37512457 [GRCh38] Chr21:38884755..38884760 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.11-14_11-13del	deletion	not specified [RCV000478139]	Chr21:37472670..37472671 [GRCh38] Chr21:38844972..38844973 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.637+8_637+11del	microsatellite	DYRK1A-related intellectual disability syndrome [RCV001495342]\|not specified [RCV000486795]	Chr21:37486617..37486620 [GRCh38] Chr21:38858919..38858922 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1118C>T (p.Ala373Val)	single nucleotide variant	not provided [RCV000486973]	Chr21:37496164 [GRCh38] Chr21:38868466 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1025del (p.Leu342fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV002526592]\|not provided [RCV000479364]	Chr21:37493114 [GRCh38] Chr21:38865416 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.1519+1G>A	single nucleotide variant	not provided [RCV000487165]	Chr21:37505590 [GRCh38] Chr21:38877893 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.490-1G>A	single nucleotide variant	not provided [RCV000480566]	Chr21:37486466 [GRCh38] Chr21:38858768 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.574C>T (p.Gln192Ter)	single nucleotide variant	not provided [RCV000498746]	Chr21:37486551 [GRCh38] Chr21:38858853 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1339A>G (p.Ile447Val)	single nucleotide variant	not specified [RCV000503740]	Chr21:37505409 [GRCh38] Chr21:38877712 [GRCh37] Chr21:21q22.13	likely benign\|conflicting interpretations of pathogenicity
NM_001347721.2(DYRK1A):c.924+4_924+7del	deletion	Complex neurodevelopmental disorder [RCV001265140]\|DYRK1A-related intellectual disability syndrome [RCV000501673]\|not provided [RCV000599528]	Chr21:37490462..37490465 [GRCh38] Chr21:38862764..38862767 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001347721.2(DYRK1A):c.363G>C (p.Lys121Asn)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001058314]\|not provided [RCV001662493]\|not specified [RCV000501770]	Chr21:37480700 [GRCh38] Chr21:38853002 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1373dup (p.Ile459fs)	duplication	Complex neurodevelopmental disorder [RCV001265306]\|not provided [RCV000509182]	Chr21:37505442..37505443 [GRCh38] Chr21:38877745..38877746 [GRCh37] Chr21:21q22.13	pathogenic\|not provided
NM_001347721.2(DYRK1A):c.1555C>T (p.Arg519Trp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001865604]\|Inborn genetic diseases [RCV002404309]\|not specified [RCV000502029]	Chr21:37506134 [GRCh38] Chr21:38878437 [GRCh37] Chr21:21q22.13	benign\|likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1403G>C (p.Ser468Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003766800]\|Inborn genetic diseases [RCV002527146]\|not provided [RCV000497845]	Chr21:37505473 [GRCh38] Chr21:38877776 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.818G>A (p.Ser273Asn)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000699804]\|Inborn genetic diseases [RCV004023371]\|not specified [RCV000500213]	Chr21:37490355 [GRCh38] Chr21:38862657 [GRCh37] Chr21:21q22.13	benign\|likely benign\|uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	copy number loss	See cases [RCV000510684]	Chr21:38699545..48097372 [GRCh37] Chr21:21q22.13-22.3	pathogenic
NM_001347721.2(DYRK1A):c.103C>T (p.Pro35Ser)	single nucleotide variant	not specified [RCV000502739]	Chr21:37472776 [GRCh38] Chr21:38845078 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs)	deletion	Complex neurodevelopmental disorder [RCV001265304]\|DYRK1A-related intellectual disability syndrome [RCV000500665]	Chr21:37505448 [GRCh38] Chr21:38877751 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.833A>T (p.Asp278Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000503079]\|not provided [RCV001268091]	Chr21:37490370 [GRCh38] Chr21:38862672 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.1357dup (p.Tyr453fs)	duplication	not provided [RCV000493767]	Chr21:37505425..37505426 [GRCh38] Chr21:38877728..38877729 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.506A>G (p.Asp169Gly)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003528179]\|not provided [RCV000493768]	Chr21:37486483 [GRCh38] Chr21:38858785 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.127C>T (p.Arg43Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000814785]\|not provided [RCV001712457]	Chr21:37472800 [GRCh38] Chr21:38845102 [GRCh37] Chr21:21q22.13	benign\|likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1205G>A (p.Gly402Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005091045]\|not provided [RCV000494518]	Chr21:37496251 [GRCh38] Chr21:38868553 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.678_680delinsAC (p.Cys226_Leu227delinsTer)	indel	Complex neurodevelopmental disorder [RCV001265308]\|not provided [RCV000494603]	Chr21:37490215..37490217 [GRCh38] Chr21:38862517..38862519 [GRCh37] Chr21:21q22.13	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	copy number gain	See cases [RCV000511589]	Chr21:15006458..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1237A>T (p.Lys413Ter)	single nucleotide variant	not provided [RCV000492917]	Chr21:37505307 [GRCh38] Chr21:38877610 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1642C>G (p.Gln548Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002527115]\|not provided [RCV000493089]	Chr21:37506221 [GRCh38] Chr21:38878524 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1803CCA[7] (p.His609_His610dup)	microsatellite	DYRK1A-related intellectual disability syndrome [RCV000686520]\|Inborn genetic diseases [RCV002413358]\|not provided [RCV001696973]\|not specified [RCV000493224]	Chr21:37512066..37512067 [GRCh38] Chr21:38884369..38884370 [GRCh37] Chr21:21q22.13	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001347721.2(DYRK1A):c.1883C>T (p.Thr628Met)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001336363]\|not provided [RCV000493407]\|not specified [RCV004782404]	Chr21:37512149 [GRCh38] Chr21:38884452 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	copy number loss	See cases [RCV000510798]	Chr21:37914123..48097372 [GRCh37] Chr21:21q22.13-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1800T>C (p.His600=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000529076]\|Inborn genetic diseases [RCV002413602]	Chr21:37512066 [GRCh38] Chr21:38884369 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.301-17A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001860275]\|not specified [RCV000602258]	Chr21:37480621 [GRCh38] Chr21:38852923 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.220dup (p.Gln74fs)	duplication	Complex neurodevelopmental disorder [RCV001265241]\|not provided [RCV000627602]	Chr21:37478216..37478217 [GRCh38] Chr21:38850518..38850519 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1430G>A (p.Gly477Asp)	single nucleotide variant	Intellectual disability syndrome due to a DYRK1A point mutation [RCV000627052]	Chr21:37505500 [GRCh38] Chr21:38877803 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1644+64T>G	single nucleotide variant	DYRK1A-related disorder [RCV004533258]\|not provided [RCV004717688]\|not specified [RCV000615066]	Chr21:37506287 [GRCh38] Chr21:38878590 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1698A>C (p.Thr566=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001422298]\|not provided [RCV001718930]	Chr21:37511964 [GRCh38] Chr21:38884267 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.842C>G (p.Pro281Arg)	single nucleotide variant	Inborn genetic diseases [RCV000624220]	Chr21:37490379 [GRCh38] Chr21:38862681 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2088C>T (p.Tyr696=)	single nucleotide variant	not specified [RCV000612541]	Chr21:37512354 [GRCh38] Chr21:38884657 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.637+8A>C	single nucleotide variant	not specified [RCV000615456]	Chr21:37486622 [GRCh38] Chr21:38858924 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1515C>T (p.Ser505=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001398491]\|not specified [RCV000615908]	Chr21:37505585 [GRCh38] Chr21:38877888 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.192A>G (p.Gln64=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003767689]\|not specified [RCV000616283]	Chr21:37472865 [GRCh38] Chr21:38845167 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.208-34A>G	single nucleotide variant	DYRK1A-related disorder [RCV004737892]\|DYRK1A-related intellectual disability syndrome [RCV000918236]\|not specified [RCV000610521]	Chr21:37478174 [GRCh38] Chr21:38850476 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.1644+86C>T	single nucleotide variant	not provided [RCV001704828]	Chr21:37506309 [GRCh38] Chr21:38878612 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.208-33T>C	single nucleotide variant	not specified [RCV000613810]	Chr21:37478175 [GRCh38] Chr21:38850477 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.638-8T>G	single nucleotide variant	not specified [RCV000608639]	Chr21:37490167 [GRCh38] Chr21:38862469 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.696G>T (p.Leu232=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001482832]\|not specified [RCV000614225]	Chr21:37490233 [GRCh38] Chr21:38862535 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2150C>G (p.Thr717Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000530906]\|not provided [RCV002261119]	Chr21:37512416 [GRCh38] Chr21:38884719 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2082C>T (p.Thr694=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002065243]\|not specified [RCV000611479]	Chr21:37512348 [GRCh38] Chr21:38884651 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.208-41del	deletion	not specified [RCV000614464]	Chr21:37478164 [GRCh38] Chr21:38850466 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1011C>G (p.Ser337=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000534196]	Chr21:37493103 [GRCh38] Chr21:38865405 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.47G>A (p.Arg16Gln)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000536161]	Chr21:37472720 [GRCh38] Chr21:38845022 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.2020C>T (p.Arg674Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001215853]\|not provided [RCV001698434]	Chr21:37512286 [GRCh38] Chr21:38884589 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1702G>C (p.Val568Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649321]	Chr21:37511968 [GRCh38] Chr21:38884271 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1560G>A (p.Ser520=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649322]	Chr21:37506139 [GRCh38] Chr21:38878442 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1178C>G (p.Thr393Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649335]\|not provided [RCV003437373]	Chr21:37496224 [GRCh38] Chr21:38868526 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1575G>A (p.Gln525=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649336]	Chr21:37506154 [GRCh38] Chr21:38878457 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2093A>G (p.Asn698Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649320]\|Inborn genetic diseases [RCV002422378]	Chr21:37512359 [GRCh38] Chr21:38884662 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.327A>G (p.Arg109=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001494815]	Chr21:37480664 [GRCh38] Chr21:38852966 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1645-7C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649333]	Chr21:37511904 [GRCh38] Chr21:38884207 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1767G>A (p.Leu589=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649330]\|Inborn genetic diseases [RCV002397289]	Chr21:37512033 [GRCh38] Chr21:38884336 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.638-3C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649329]\|not specified [RCV001816619]	Chr21:37490172 [GRCh38] Chr21:38862474 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.138A>T (p.Pro46=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649328]	Chr21:37472811 [GRCh38] Chr21:38845113 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1998A>C (p.Gln666His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649327]\|Inborn genetic diseases [RCV002531942]\|not provided [RCV000841415]	Chr21:37512264 [GRCh38] Chr21:38884567 [GRCh37] Chr21:21q22.13	benign\|likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1568C>T (p.Thr523Met)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649326]\|not provided [RCV001796167]	Chr21:37506147 [GRCh38] Chr21:38878450 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1803CCA[6] (p.His610dup)	microsatellite	DYRK1A-related intellectual disability syndrome [RCV000649325]	Chr21:37512066..37512067 [GRCh38] Chr21:38884369..38884370 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1594C>T (p.His532Tyr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649324]	Chr21:37506173 [GRCh38] Chr21:38878476 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1630A>G (p.Thr544Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000649323]\|Inborn genetic diseases [RCV002311986]\|not provided [RCV001584495]	Chr21:37506209 [GRCh38] Chr21:38878512 [GRCh37] Chr21:21q22.13	benign\|likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.10+9A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002529439]\|not specified [RCV000605390]	Chr21:37420393 [GRCh38] Chr21:38792695 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.777G>A (p.Gln259=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003767610]\|not specified [RCV000602061]	Chr21:37490314 [GRCh38] Chr21:38862616 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1959G>A (p.Thr653=)	single nucleotide variant	not specified [RCV000604807]	Chr21:37512225 [GRCh38] Chr21:38884528 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1072-19_1072-17del	microsatellite	not specified [RCV000602238]	Chr21:37496094..37496096 [GRCh38] Chr21:38868396..38868398 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2145T>C (p.Ala715=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000554889]\|Inborn genetic diseases [RCV002316570]	Chr21:37512411 [GRCh38] Chr21:38884714 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.695T>C (p.Leu232Pro)	single nucleotide variant	not provided [RCV000594245]	Chr21:37490232 [GRCh38] Chr21:38862534 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1306dup (p.Thr436fs)	duplication	not provided [RCV000656289]	Chr21:37505375..37505376 [GRCh38] Chr21:38877678..38877679 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1644+15G>A	single nucleotide variant	not specified [RCV000605827]	Chr21:37506238 [GRCh38] Chr21:38878541 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1275dup (p.Gly426fs)	duplication	Inborn genetic diseases [RCV000622542]	Chr21:37505344..37505345 [GRCh38] Chr21:38877647..38877648 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs)	deletion	Complex neurodevelopmental disorder [RCV001265239]\|DYRK1A-related intellectual disability syndrome [RCV001376170]\|Inborn genetic diseases [RCV000622636]	Chr21:37490194..37490195 [GRCh38] Chr21:38862496..38862497 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.803del (p.Ala268fs)	deletion	Inborn genetic diseases [RCV000623984]	Chr21:37490340 [GRCh38] Chr21:38862642 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.267T>G (p.Val89=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000981548]\|not provided [RCV001698094]	Chr21:37478267 [GRCh38] Chr21:38850569 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1008G>A (p.Trp336Ter)	single nucleotide variant	Complex neurodevelopmental disorder [RCV001265305]\|Inborn genetic diseases [RCV000623151]\|not provided [RCV002461933]	Chr21:37493100 [GRCh38] Chr21:38865402 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.317del (p.Lys106fs)	deletion	not provided [RCV000627487]	Chr21:37480649 [GRCh38] Chr21:38852951 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.531_532dup (p.Ile178fs)	duplication	Inborn genetic diseases [RCV000623712]	Chr21:37486507..37486508 [GRCh38] Chr21:38858809..38858810 [GRCh37] Chr21:21q22.13	pathogenic
GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3	copy number gain	See cases [RCV000512585]	Chr21:36183329..42311538 [GRCh37] Chr21:21q22.12-22.2	likely pathogenic
NM_001347721.2(DYRK1A):c.1352T>C (p.Leu451Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003486062]	Chr21:37505422 [GRCh38] Chr21:38877725 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.910C>T (p.Gln304Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000677426]	Chr21:37490447 [GRCh38] Chr21:38862749 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1014C>T (p.Leu338=)	single nucleotide variant	DYRK1A-related disorder [RCV004535775]\|DYRK1A-related intellectual disability syndrome [RCV000887492]\|Inborn genetic diseases [RCV002312489]\|not provided [RCV001576817]\|not specified [RCV001816752]	Chr21:37493106 [GRCh38] Chr21:38865408 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.1564C>T (p.Pro522Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001868362]\|Inborn genetic diseases [RCV002316810]	Chr21:37506143 [GRCh38] Chr21:38878446 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3	copy number gain	not provided [RCV000684166]	Chr21:33980213..42542987 [GRCh37] Chr21:21q22.11-22.2	pathogenic
NM_001347721.2(DYRK1A):c.212G>T (p.Arg71Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001493519]	Chr21:37478212 [GRCh38] Chr21:38850514 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.637+2T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000692267]	Chr21:37486616 [GRCh38] Chr21:38858918 [GRCh37] Chr21:21q22.13	pathogenic
NC_000021.8:g.(?_38792657)_(38884854_?)del	deletion	DYRK1A-related intellectual disability syndrome [RCV000708541]	Chr21:38792657..38884854 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1705A>G (p.Thr569Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000815038]\|not provided [RCV000711512]	Chr21:37511971 [GRCh38] Chr21:38884274 [GRCh37] Chr21:21q22.13	conflicting interpretations of pathogenicity\|uncertain significance
NM_001347721.2(DYRK1A):c.1947G>A (p.Leu649=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001417778]\|not provided [RCV000711514]	Chr21:37512213 [GRCh38] Chr21:38884516 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.139A>G (p.Asn47Asp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000705630]	Chr21:37472812 [GRCh38] Chr21:38845114 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.507dup (p.Arg170fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV000700316]	Chr21:37486483..37486484 [GRCh38] Chr21:38858785..38858786 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1215G>C (p.Glu405Asp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000697226]	Chr21:37505285 [GRCh38] Chr21:38877588 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1105G>A (p.Gly369Ser)	single nucleotide variant	Inborn genetic diseases [RCV002312456]	Chr21:37496151 [GRCh38] Chr21:38868453 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1871A>T (p.Tyr624Phe)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000882584]\|Inborn genetic diseases [RCV002317999]\|not provided [RCV001592921]	Chr21:37512137 [GRCh38] Chr21:38884440 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1419A>G (p.Thr473=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001499348]\|Inborn genetic diseases [RCV002317614]	Chr21:37505489 [GRCh38] Chr21:38877792 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2219C>T (p.Pro740Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001489153]\|Inborn genetic diseases [RCV002317605]\|not provided [RCV001772018]	Chr21:37512485 [GRCh38] Chr21:38884788 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.66A>G (p.Ser22=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002534981]\|Inborn genetic diseases [RCV002318229]	Chr21:37472739 [GRCh38] Chr21:38845041 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.925-48C>T	single nucleotide variant	not provided [RCV001540509]	Chr21:37492969 [GRCh38] Chr21:38865271 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.-76-9646C>T	single nucleotide variant	not provided [RCV001643893]	Chr21:37410653 [GRCh38] Chr21:38782955 [GRCh37] Chr21:21q22.13	benign
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3	copy number gain	not provided [RCV000741419]	Chr21:10827533..48100155 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3	copy number gain	not provided [RCV000741413]	Chr21:10699330..48117896 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3	copy number gain	not provided [RCV000741415]	Chr21:10704198..48117896 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3	copy number gain	not provided [RCV000741418]	Chr21:10824040..48090629 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
NM_001347721.2(DYRK1A):c.11-175C>T	single nucleotide variant	not provided [RCV001645800]	Chr21:37472509 [GRCh38] Chr21:38844811 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.207+168T>A	single nucleotide variant	not provided [RCV001648141]	Chr21:37473048 [GRCh38] Chr21:38845350 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1798C>T (p.His600Tyr)	single nucleotide variant	not provided [RCV001545702]	Chr21:37512064 [GRCh38] Chr21:38884367 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2137T>G (p.Phe713Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000977821]	Chr21:37512403 [GRCh38] Chr21:38884706 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1800_1811del (p.His607_His610del)	deletion	not provided [RCV000762041]	Chr21:37512061..37512072 [GRCh38] Chr21:38884364..38884375 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.334C>T (p.Gln112Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000760218]	Chr21:37480671 [GRCh38] Chr21:38852973 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1665T>C (p.Ala555=)	single nucleotide variant	not provided [RCV000762359]	Chr21:37511931 [GRCh38] Chr21:38884234 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1378C>T (p.Gln460Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001254070]\|not provided [RCV000760561]	Chr21:37505448 [GRCh38] Chr21:38877751 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.151C>T (p.Gln51Ter)	single nucleotide variant	not provided [RCV000760626]	Chr21:37472824 [GRCh38] Chr21:38845126 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.10+104_10+106del	deletion	not provided [RCV001679928]	Chr21:37420485..37420487 [GRCh38] Chr21:38792787..38792789 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1783A>G (p.Asn595Asp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001044780]	Chr21:37512049 [GRCh38] Chr21:38884352 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.924+99C>T	single nucleotide variant	not provided [RCV001666319]	Chr21:37490560 [GRCh38] Chr21:38862862 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1488G>A (p.Ser496=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000928035]\|Inborn genetic diseases [RCV002390939]	Chr21:37505558 [GRCh38] Chr21:38877861 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1029T>G (p.Val343=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001462272]	Chr21:37493121 [GRCh38] Chr21:38865423 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.747T>C (p.Ser249=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001447991]	Chr21:37490284 [GRCh38] Chr21:38862586 [GRCh37] Chr21:21q22.13	likely benign
NC_000021.8:g.(?_38791602)_(38888679_?)dup	duplication	DYRK1A-related intellectual disability syndrome [RCV001033278]	Chr21:38791602..38888679 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1645-7C>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001034091]	Chr21:37511904 [GRCh38] Chr21:38884207 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.2099G>A (p.Arg700His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001034117]\|Inborn genetic diseases [RCV002416319]	Chr21:37512365 [GRCh38] Chr21:38884668 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1812_1829del (p.His605_His610del)	deletion	DYRK1A-related intellectual disability syndrome [RCV001034220]	Chr21:37512061..37512078 [GRCh38] Chr21:38884364..38884381 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1588G>A (p.Gly530Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001034277]	Chr21:37506167 [GRCh38] Chr21:38878470 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1250T>G (p.Ile417Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001034494]	Chr21:37505320 [GRCh38] Chr21:38877623 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.675_676del (p.Cys226fs)	microsatellite	DYRK1A-related intellectual disability syndrome [RCV000824848]	Chr21:37490209..37490210 [GRCh38] Chr21:38862511..38862512 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000770999]	Chr21:37493037 [GRCh38] Chr21:38865339 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1803CCA[1] (p.His607_His610del)	microsatellite	DYRK1A-related intellectual disability syndrome [RCV000932997]	Chr21:37512067..37512078 [GRCh38] Chr21:38884370..38884381 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1968C>T (p.Ser656=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000980719]	Chr21:37512234 [GRCh38] Chr21:38884537 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2085C>T (p.Val695=)	single nucleotide variant	not provided [RCV000979650]	Chr21:37512351 [GRCh38] Chr21:38884654 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1509G>T (p.Ser503=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001505043]	Chr21:37505579 [GRCh38] Chr21:38877882 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.593T>C (p.Leu198Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003313009]	Chr21:37486570 [GRCh38] Chr21:38858872 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1807CACCACCACCAT[1] (p.His607_His610del)	microsatellite	DYRK1A-related intellectual disability syndrome [RCV001038653]\|not provided [RCV000827252]	Chr21:37512073..37512084 [GRCh38] Chr21:38884376..38884387 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1072-309A>T	single nucleotide variant	not provided [RCV000827875]	Chr21:37495809 [GRCh38] Chr21:38868111 [GRCh37] Chr21:21q22.13	benign
NC_000021.9:g.37490462_37490465del	deletion	Mental retardation, autosomal dominant 7 [RCV000824837]		likely pathogenic
NM_001347721.2(DYRK1A):c.128G>A (p.Arg43His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000816227]	Chr21:37472801 [GRCh38] Chr21:38845103 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1583del (p.His528fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV000795332]	Chr21:37506162 [GRCh38] Chr21:38878465 [GRCh37] Chr21:21q22.13	pathogenic\|uncertain significance
NM_001347721.2(DYRK1A):c.1213-2A>G	single nucleotide variant	DYRK1A-related disorder [RCV004540122]\|DYRK1A-related intellectual disability syndrome [RCV000824986]\|not provided [RCV004720017]	Chr21:37505281 [GRCh38] Chr21:38877584 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.1072-294T>G	single nucleotide variant	not provided [RCV000828924]	Chr21:37495824 [GRCh38] Chr21:38868126 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1072-308T>A	single nucleotide variant	not provided [RCV000830313]	Chr21:37495810 [GRCh38] Chr21:38868112 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1520-74A>T	single nucleotide variant	not provided [RCV000836888]	Chr21:37506025 [GRCh38] Chr21:38878328 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.207+273_207+277del	deletion	not provided [RCV000831025]	Chr21:37473153..37473157 [GRCh38] Chr21:38845455..38845459 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.924+80C>T	single nucleotide variant	not provided [RCV000839007]	Chr21:37490541 [GRCh38] Chr21:38862843 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.207+112G>A	single nucleotide variant	not provided [RCV000833808]	Chr21:37472992 [GRCh38] Chr21:38845294 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.300+157G>A	single nucleotide variant	not provided [RCV000833809]	Chr21:37478457 [GRCh38] Chr21:38850759 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.638-100T>C	single nucleotide variant	not provided [RCV000837204]	Chr21:37490075 [GRCh38] Chr21:38862377 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.672T>C (p.His224=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002068573]\|not provided [RCV000840916]	Chr21:37490209 [GRCh38] Chr21:38862511 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.-76-1479G>A	single nucleotide variant	not provided [RCV000830616]	Chr21:37418820 [GRCh38] Chr21:38791122 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.301-212G>A	single nucleotide variant	not provided [RCV000841187]	Chr21:37480426 [GRCh38] Chr21:37480426..37480427 [GRCh38] Chr21:38852728 [GRCh37] Chr21:38852728..38852729 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.637+22G>A	single nucleotide variant	not provided [RCV000841188]	Chr21:37486636 [GRCh38] Chr21:38858938 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.-76-12T>C	single nucleotide variant	not provided [RCV000838664]	Chr21:37420287 [GRCh38] Chr21:38792589 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1685C>T (p.Thr562Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000820478]	Chr21:37511951 [GRCh38] Chr21:38884254 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000823165]\|not provided [RCV003128715]	Chr21:37493161 [GRCh38] Chr21:38865463 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1071+42C>G	single nucleotide variant	not provided [RCV000839008]	Chr21:37493205 [GRCh38] Chr21:38865507 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.-76-1445A>G	single nucleotide variant	not provided [RCV000839551]	Chr21:37418854 [GRCh38] Chr21:38791156 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.404A>G (p.Asn135Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000824283]	Chr21:37480741 [GRCh38] Chr21:38853043 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.208-201C>G	single nucleotide variant	not provided [RCV000836873]	Chr21:37478007 [GRCh38] Chr21:38850309 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1212+1G>A	single nucleotide variant	not provided [RCV001090981]	Chr21:37496259 [GRCh38] Chr21:38868561 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.2098C>T (p.Arg700Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000795046]	Chr21:37512364 [GRCh38] Chr21:38884667 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.474del (p.Gly159fs)	deletion	not provided [RCV001090979]	Chr21:37480809 [GRCh38] Chr21:38853111 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.207+273G>A	single nucleotide variant	not provided [RCV000828922]	Chr21:37473153 [GRCh38] Chr21:38845455 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.169T>C (p.Ser57Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000806873]	Chr21:37472842 [GRCh38] Chr21:38845144 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.227T>G (p.Phe76Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000812317]	Chr21:37478227 [GRCh38] Chr21:38850529 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1229G>C (p.Gly410Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000818312]	Chr21:37505299 [GRCh38] Chr21:38877602 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.764A>G (p.Lys255Arg)	single nucleotide variant	not provided [RCV003314901]	Chr21:37490301 [GRCh38] Chr21:38862603 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1712A>G (p.Glu571Gly)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000813686]	Chr21:37511978 [GRCh38] Chr21:38884281 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.11-226T>A	single nucleotide variant	not provided [RCV000841669]	Chr21:37472458 [GRCh38] Chr21:38844760 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.484G>A (p.Gly162Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000811825]	Chr21:37480821 [GRCh38] Chr21:38853123 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic\|uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	not provided [RCV000846937]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.855T>C (p.Leu285=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000915076]	Chr21:37490392 [GRCh38] Chr21:38862694 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1380A>G (p.Gln460=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001214166]\|Inborn genetic diseases [RCV002393492]	Chr21:37505450 [GRCh38] Chr21:38877753 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.493G>A (p.Val165Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001220655]	Chr21:37486470 [GRCh38] Chr21:38858772 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2128A>G (p.Thr710Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001237816]	Chr21:37512394 [GRCh38] Chr21:38884697 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1286G>A (p.Arg429His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001224657]\|not provided [RCV001815518]	Chr21:37505356 [GRCh38] Chr21:38877659 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.376G>A (p.Val126Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001214925]	Chr21:37480713 [GRCh38] Chr21:38853015 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1970C>T (p.Ser657Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001238498]	Chr21:37512236 [GRCh38] Chr21:38884539 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.638-8_638-3del	deletion	not specified [RCV001194243]	Chr21:37490163..37490168 [GRCh38] Chr21:38862465..38862470 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1357_1358insTC (p.Tyr453fs)	insertion	DYRK1A-related intellectual disability syndrome [RCV001197239]	Chr21:37505427..37505428 [GRCh38] Chr21:38877730..38877731 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.19A>G (p.Thr7Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001232564]\|not provided [RCV001564383]	Chr21:37472692 [GRCh38] Chr21:38844994 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1235G>A (p.Arg412His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001238745]	Chr21:37505305 [GRCh38] Chr21:38877608 [GRCh37] Chr21:21q22.13	likely pathogenic\|uncertain significance
NM_001347721.2(DYRK1A):c.822dup (p.Ile275fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV003326183]	Chr21:37490358..37490359 [GRCh38] Chr21:38862660..38862661 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1635_1636del (p.His545fs)	microsatellite	DYRK1A-related intellectual disability syndrome [RCV000995762]	Chr21:37506209..37506210 [GRCh38] Chr21:38878512..38878513 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1289del (p.Ala430fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV001198032]	Chr21:37505359 [GRCh38] Chr21:38877662 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.606dup (p.Lys203fs)	duplication	not provided [RCV001009094]	Chr21:37486582..37486583 [GRCh38] Chr21:38858884..38858885 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1213-22C>G	single nucleotide variant	not provided [RCV001564873]	Chr21:37505261 [GRCh38] Chr21:38877564 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.-76-211dup	duplication	not provided [RCV001566594]	Chr21:37420078..37420079 [GRCh38] Chr21:38792380..38792381 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.490-111del	deletion	not provided [RCV001551698]	Chr21:37486356 [GRCh38] Chr21:38858658 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.683_695delinsA (p.Val228_Leu232delinsGlu)	indel	DYRK1A-related intellectual disability syndrome [RCV004819930]	Chr21:37490220..37490232 [GRCh38] Chr21:38862522..38862534 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.819T>C (p.Ser273=)	single nucleotide variant	not provided [RCV001550044]	Chr21:37490356 [GRCh38] Chr21:38862658 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.-76-9690T>C	single nucleotide variant	not provided [RCV001639136]	Chr21:37410609 [GRCh38] Chr21:38782911 [GRCh37] Chr21:21q22.13	benign
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	copy number gain	Down syndrome [RCV002284306]	Chr21:14420615..48080926 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1915G>A (p.Val639Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001995451]	Chr21:37512181 [GRCh38] Chr21:38884484 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1183A>T (p.Asn395Tyr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005094739]\|not provided [RCV001532450]	Chr21:37496229 [GRCh38] Chr21:38868531 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.-161C>T	single nucleotide variant	not provided [RCV001719448]	Chr21:37367544 [GRCh38] Chr21:38739846 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1269A>G (p.Gly423=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002538542]\|not provided [RCV001653167]	Chr21:37505339 [GRCh38] Chr21:38877642 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2217C>T (p.Ser739=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001418357]	Chr21:37512483 [GRCh38] Chr21:38884786 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.450C>T (p.Tyr150=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000930922]\|not provided [RCV001788379]	Chr21:37480787 [GRCh38] Chr21:38853089 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2136A>G (p.Gln712=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000952219]	Chr21:37512402 [GRCh38] Chr21:38884705 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2021G>A (p.Arg674His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003528246]	Chr21:37512287 [GRCh38] Chr21:38884590 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1001A>T (p.Asp334Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000853585]	Chr21:37493093 [GRCh38] Chr21:38865395 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1608C>G (p.Ala536=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001429219]	Chr21:37506187 [GRCh38] Chr21:38878490 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.88A>G (p.Met30Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000931147]	Chr21:37472761 [GRCh38] Chr21:38845063 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.2031T>C (p.Ala677=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV000931148]	Chr21:37512297 [GRCh38] Chr21:38884600 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1464C>T (p.Pro488=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001410403]\|not provided [RCV000909468]	Chr21:37505534 [GRCh38] Chr21:38877837 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1644+8C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001506295]	Chr21:37506231 [GRCh38] Chr21:38878534 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1830T>C (p.His610=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001434100]	Chr21:37512096 [GRCh38] Chr21:38884399 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1803CCA[4] (p.His610del)	microsatellite	DYRK1A-related disorder [RCV004530990]\|DYRK1A-related intellectual disability syndrome [RCV000894210]\|Inborn genetic diseases [RCV002409148]	Chr21:37512067..37512069 [GRCh38] Chr21:38884370..38884372 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.1353T>G (p.Leu451=)	single nucleotide variant	not provided [RCV000938751]	Chr21:37505423 [GRCh38] Chr21:38877726 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1925G>A (p.Ser642Asn)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001049223]	Chr21:37512191 [GRCh38] Chr21:38884494 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.173A>G (p.Tyr58Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001208618]\|Inborn genetic diseases [RCV002402612]	Chr21:37472846 [GRCh38] Chr21:38845148 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.43G>A (p.Val15Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001205973]	Chr21:37472716 [GRCh38] Chr21:38845018 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1636A>T (p.Ser546Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001246647]	Chr21:37506215 [GRCh38] Chr21:38878518 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1613A>G (p.Gln538Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001217752]	Chr21:37506192 [GRCh38] Chr21:38878495 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.792G>C (p.Leu264=)	single nucleotide variant	not provided [RCV001090980]	Chr21:37490329 [GRCh38] Chr21:38862631 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1639C>T (p.Pro547Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001034109]	Chr21:37506218 [GRCh38] Chr21:38878521 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2144C>G (p.Ala715Gly)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001034527]\|Inborn genetic diseases [RCV002427476]	Chr21:37512410 [GRCh38] Chr21:38884713 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.286A>T (p.Lys96Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002470368]	Chr21:37478286 [GRCh38] Chr21:38850588 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1072-6A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002471433]	Chr21:37496112 [GRCh38] Chr21:38868414 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1648C>T (p.Arg550Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002072102]\|not provided [RCV001557973]	Chr21:37511914 [GRCh38] Chr21:38884217 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.489+22A>G	single nucleotide variant	not provided [RCV001558149]	Chr21:37480848 [GRCh38] Chr21:38853150 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1177A>G (p.Thr393Ala)	single nucleotide variant	not provided [RCV002464765]	Chr21:37496223 [GRCh38] Chr21:38868525 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.637+22G>C	single nucleotide variant	not provided [RCV001677694]	Chr21:37486636 [GRCh38] Chr21:38858938 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1336del (p.Leu446fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV002468701]	Chr21:37505405 [GRCh38] Chr21:38877708 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1530G>A (p.Ser510=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002072121]\|not provided [RCV001559796]	Chr21:37506109 [GRCh38] Chr21:38878412 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2011T>C (p.Tyr671His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003640981]\|not provided [RCV001665447]	Chr21:37512277 [GRCh38] Chr21:38884580 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.343G>T (p.Gly115Ter)	single nucleotide variant	See cases [RCV002253171]	Chr21:37480680 [GRCh38] Chr21:38852982 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.207+143_207+145del	microsatellite	not provided [RCV001636273]	Chr21:37473020..37473022 [GRCh38] Chr21:38845322..38845324 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1007G>A (p.Trp336Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV004820969]	Chr21:37493099 [GRCh38] Chr21:38865401 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.814dup (p.Leu272fs)	duplication	not provided [RCV001008591]	Chr21:37490350..37490351 [GRCh38] Chr21:38862652..38862653 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.78T>A (p.Ala26=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001066900]	Chr21:37472751 [GRCh38] Chr21:38845053 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NCBI36/hg18 21q22.13-22.2(chr21:37662974-39236719)x1	copy number loss	Complex neurodevelopmental disorder [RCV001264791]	Chr21:37662974..39236719 [NCBI36] Chr21:21q22.13-22.2	pathogenic
NM_001347721.2(DYRK1A):c.638-101=	single nucleotide variant	not provided [RCV001717235]	Chr21:37490074 [GRCh38] Chr21:38862376 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1343_1346dup (p.Arg449fs)	duplication	not provided [RCV001009064]	Chr21:37505412..37505413 [GRCh38] Chr21:38877715..38877716 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.208-20C>T	single nucleotide variant	not provided [RCV001658794]	Chr21:37478188 [GRCh38] Chr21:38850490 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1213-42T>G	single nucleotide variant	not provided [RCV001674374]	Chr21:37505241 [GRCh38] Chr21:38877544 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1190_1193del (p.Lys397fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV002032642]\|not provided [RCV001658937]	Chr21:37496234..37496237 [GRCh38] Chr21:38868536..38868539 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.803C>T (p.Ala268Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001033985]\|not provided [RCV001772202]	Chr21:37490340 [GRCh38] Chr21:38862642 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1331A>G (p.Lys444Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001034331]	Chr21:37505401 [GRCh38] Chr21:38877704 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2084T>C (p.Val695Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001034507]\|Inborn genetic diseases [RCV004030931]	Chr21:37512350 [GRCh38] Chr21:38884653 [GRCh37] Chr21:21q22.13	benign\|likely benign
NC_000021.9:g.(?_37492997)_(37493183_?)del	deletion	DYRK1A-related intellectual disability syndrome [RCV001031728]	Chr21:38865299..38865485 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.536_538del (p.Lys179del)	deletion	DYRK1A-related intellectual disability syndrome [RCV001171513]	Chr21:37486512..37486514 [GRCh38] Chr21:38858814..38858816 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1158T>G (p.Phe386Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003640959]\|not provided [RCV001171563]	Chr21:37496204 [GRCh38] Chr21:38868506 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.300+38G>A	single nucleotide variant	not provided [RCV001645836]	Chr21:37478338 [GRCh38] Chr21:38850640 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.11-40A>C	single nucleotide variant	not provided [RCV001611112]	Chr21:37472644 [GRCh38] Chr21:38844946 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.2087A>T (p.Tyr696Phe)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001071180]	Chr21:37512353 [GRCh38] Chr21:38884656 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.-76-1713A>G	single nucleotide variant	not provided [RCV001589687]	Chr21:37418586 [GRCh38] Chr21:38790888 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1112del (p.Pro371fs)	deletion	not provided [RCV001543481]	Chr21:37496157 [GRCh38] Chr21:38868459 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.-324A>C	single nucleotide variant	not provided [RCV001650094]	Chr21:37367381 [GRCh38] Chr21:38739683 [GRCh37] Chr21:21q22.13	benign
GRCh37/hg19 21q22.13(chr21:38789355-38812821)x1	copy number loss	not provided [RCV001537918]	Chr21:38789355..38812821 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.924+22G>A	single nucleotide variant	not provided [RCV001614434]	Chr21:37490483 [GRCh38] Chr21:38862785 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.207+292A>G	single nucleotide variant	not provided [RCV001588105]	Chr21:37473172 [GRCh38] Chr21:38845474 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.300+3A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001033981]	Chr21:37478303 [GRCh38] Chr21:38850605 [GRCh37] Chr21:21q22.13	likely benign\|conflicting interpretations of pathogenicity
NM_001347721.2(DYRK1A):c.1363C>G (p.Pro455Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001034138]	Chr21:37505433 [GRCh38] Chr21:38877736 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1212+31T>G	single nucleotide variant	not provided [RCV001645333]	Chr21:37496289 [GRCh38] Chr21:38868591 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1763C>T (p.Ala588Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001034335]	Chr21:37512029 [GRCh38] Chr21:38884332 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1609G>A (p.Val537Met)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001068623]	Chr21:37506188 [GRCh38] Chr21:38878491 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.407A>G (p.Tyr136Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001246678]	Chr21:37480744 [GRCh38] Chr21:38853046 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.450C>G (p.Tyr150Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001061288]	Chr21:37480787 [GRCh38] Chr21:38853089 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1015G>T (p.Gly339Trp)	single nucleotide variant	not provided [RCV001200269]	Chr21:37493107 [GRCh38] Chr21:38865409 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1634A>C (p.His545Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001057825]	Chr21:37506213 [GRCh38] Chr21:38878516 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.587G>A (p.Arg196Gln)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001036987]	Chr21:37486564 [GRCh38] Chr21:38858866 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1819C>G (p.His607Asp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001207071]\|not provided [RCV002286820]	Chr21:37512085 [GRCh38] Chr21:38884388 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1778A>T (p.His593Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001064364]	Chr21:37512044 [GRCh38] Chr21:38884347 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.380A>G (p.Tyr127Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001064761]	Chr21:37480717 [GRCh38] Chr21:38853019 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001040552]	Chr21:37505377 [GRCh38] Chr21:38877680 [GRCh37] Chr21:21q22.13	conflicting interpretations of pathogenicity\|uncertain significance
NM_001347721.2(DYRK1A):c.2261C>T (p.Ser754Leu)	single nucleotide variant	DYRK1A-related disorder [RCV004738205]\|DYRK1A-related intellectual disability syndrome [RCV001230506]\|Inborn genetic diseases [RCV002447151]	Chr21:37512527 [GRCh38] Chr21:38884830 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.10+3G>C	single nucleotide variant	not specified [RCV001194244]	Chr21:37420387 [GRCh38] Chr21:38792689 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.300+5G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001034085]	Chr21:37478305 [GRCh38] Chr21:38850607 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1212_1213insTAA (p.Glu405Ter)	insertion	DYRK1A-related intellectual disability syndrome [RCV001255832]	Chr21:37505282..37505283 [GRCh38] Chr21:38877585..38877586 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.208dup (p.Arg70fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV001255846]	Chr21:37478207..37478208 [GRCh38] Chr21:38850509..38850510 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.687del (p.Phe229fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV001264823]	Chr21:37490220 [GRCh38] Chr21:38862522 [GRCh37] Chr21:21q22.13	pathogenic
NCBI36/hg18 21q22.13-22.2(chr21:37662974-39195976)x1	copy number loss	Complex neurodevelopmental disorder [RCV001264790]	Chr21:37662974..39195976 [NCBI36] Chr21:21q22.13-22.2	pathogenic
NM_001347721.2(DYRK1A):c.980_981insCCCA (p.Met327fs)	insertion	DYRK1A-related intellectual disability syndrome [RCV001253787]	Chr21:37493072..37493073 [GRCh38] Chr21:38865374..38865375 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1354_1357del (p.Asp452fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV001253550]	Chr21:37505422..37505425 [GRCh38] Chr21:38877725..38877728 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1270G>T (p.Gly424Ter)	single nucleotide variant	Intellectual disability [RCV001251045]	Chr21:37505340 [GRCh38] Chr21:38877643 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.471del (p.Gly159fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV001253225]	Chr21:37480808 [GRCh38] Chr21:38853110 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.931C>T (p.Gln311Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001253651]	Chr21:37493023 [GRCh38] Chr21:38865325 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1357T>C (p.Tyr453His)	single nucleotide variant	Intellectual disability [RCV001260677]	Chr21:37505427 [GRCh38] Chr21:38877730 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1173del (p.Asp391fs)	deletion	Intellectual disability [RCV001260697]	Chr21:37496219 [GRCh38] Chr21:38868521 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.649C>T (p.Arg217Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001263015]	Chr21:37490186 [GRCh38] Chr21:38862488 [GRCh37] Chr21:21q22.13	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001347721.2(DYRK1A):c.489+2T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003120519]\|Inborn genetic diseases [RCV001266728]	Chr21:37480828 [GRCh38] Chr21:38853130 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.424_439del (p.Asn142fs)	deletion	Complex neurodevelopmental disorder [RCV001265240]	Chr21:37480760..37480775 [GRCh38] Chr21:38853062..38853077 [GRCh37] Chr21:21q22.13	pathogenic
GRCh37/hg19 21q22.13(chr21:38744158-38830251)x1	copy number loss	Complex neurodevelopmental disorder [RCV001265139]	Chr21:38744158..38830251 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1072-2A>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001255759]	Chr21:37496116 [GRCh38] Chr21:38868418 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.*142dup	duplication	not provided [RCV001663113]	Chr21:37512663..37512664 [GRCh38] Chr21:38884966..38884967 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1729_1732del (p.Glu577fs)	deletion	not provided [RCV002280075]	Chr21:37511993..37511996 [GRCh38] Chr21:38884296..38884299 [GRCh37] Chr21:21q22.13	pathogenic
GRCh37/hg19 21q22.13(chr21:38719388-38887895)	copy number loss	Intellectual disability [RCV001261858]	Chr21:38719388..38887895 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.2210A>G (p.Glu737Gly)	single nucleotide variant	not provided [RCV002280058]	Chr21:37512476 [GRCh38] Chr21:38884779 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.208-27G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002005156]	Chr21:37478181 [GRCh38] Chr21:38850483 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.848del (p.Asn283fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV004783282]	Chr21:37490382 [GRCh38] Chr21:38862684 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.301-1G>T	single nucleotide variant	Intellectual disability [RCV001260676]	Chr21:37480637 [GRCh38] Chr21:38852939 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.755del (p.Leu252fs)	deletion	Intellectual disability [RCV001260698]	Chr21:37490292 [GRCh38] Chr21:38862594 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.637+4A>T	single nucleotide variant	Intellectual disability [RCV001260678]	Chr21:37486618 [GRCh38] Chr21:38858920 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.489+2T>A	single nucleotide variant	not provided [RCV001268276]	Chr21:37480828 [GRCh38] Chr21:38853130 [GRCh37] Chr21:21q22.13	likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	copy number gain	See cases [RCV001263025]	Chr21:14629063..48090317 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1132C>T (p.Gln378Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001380647]\|not provided [RCV001268839]	Chr21:37496178 [GRCh38] Chr21:38868480 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.121A>G (p.Ser41Gly)	single nucleotide variant	Inborn genetic diseases [RCV001267544]	Chr21:37472794 [GRCh38] Chr21:38845096 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.301-2A>G	single nucleotide variant	Complex neurodevelopmental disorder [RCV001265138]	Chr21:37480636 [GRCh38] Chr21:38852938 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.208-28G>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001294306]\|not provided [RCV001814302]	Chr21:37478180 [GRCh38] Chr21:38850482 [GRCh37] Chr21:21q22.13	uncertain significance
NC_000021.8:g.(?_38791602)_(38888679_?)dup	duplication	Mental retardation, autosomal dominant 7 [RCV001299971]	Chr21:38791602..38888679 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1774C>T (p.His592Tyr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001351529]	Chr21:37512040 [GRCh38] Chr21:38884343 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1004T>C (p.Met335Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001302931]	Chr21:37493096 [GRCh38] Chr21:38865398 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2046C>G (p.Asp682Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001323298]\|not provided [RCV002276692]	Chr21:37512312 [GRCh38] Chr21:38884615 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.490-9_490-5del	deletion	DYRK1A-related intellectual disability syndrome [RCV001295795]	Chr21:37486454..37486458 [GRCh38] Chr21:38858756..38858760 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NC_000021.9:g.37347863_37423682del	deletion	DYRK1A-related intellectual disability syndrome [RCV001310254]	Chr21:37347863..37423682 [GRCh38] Chr21:38720165..38795984 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1714A>G (p.Thr572Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001330588]	Chr21:37511980 [GRCh38] Chr21:38884283 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1436A>C (p.Asn479Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001341184]	Chr21:37505506 [GRCh38] Chr21:38877809 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1644+87G>A	single nucleotide variant	not provided [RCV001539383]	Chr21:37506310 [GRCh38] Chr21:38878613 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.499G>T (p.Ala167Ser)	single nucleotide variant	not provided [RCV001312005]	Chr21:37486476 [GRCh38] Chr21:38858778 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.850A>G (p.Ile284Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001363269]	Chr21:37490387 [GRCh38] Chr21:38862689 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1382C>T (p.Pro461Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001338259]	Chr21:37505452 [GRCh38] Chr21:38877755 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1529C>T (p.Ser510Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001350906]	Chr21:37506108 [GRCh38] Chr21:38878411 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2151A>G (p.Thr717=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001396837]	Chr21:37512417 [GRCh38] Chr21:38884720 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2003A>G (p.Asn668Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001308089]	Chr21:37512269 [GRCh38] Chr21:38884572 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.154C>G (p.Gln52Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001871927]\|not provided [RCV001355234]	Chr21:37472827 [GRCh38] Chr21:38845129 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1720C>A (p.Pro574Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001371027]	Chr21:37511986 [GRCh38] Chr21:38884289 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2200G>C (p.Ala734Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001373767]	Chr21:37512466 [GRCh38] Chr21:38884769 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.349G>A (p.Asp117Asn)	single nucleotide variant	DYRK1A-related disorder [RCV004738268]\|DYRK1A-related intellectual disability syndrome [RCV001364025]\|Inborn genetic diseases [RCV003169825]\|not provided [RCV001797175]	Chr21:37480686 [GRCh38] Chr21:38852988 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.931_932del (p.Gln311fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV001375544]	Chr21:37493023..37493024 [GRCh38] Chr21:38865325..38865326 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.650G>A (p.Arg217His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001359417]	Chr21:37490187 [GRCh38] Chr21:38862489 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.235C>T (p.Pro79Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001342362]	Chr21:37478235 [GRCh38] Chr21:38850537 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1127T>C (p.Leu376Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001346930]	Chr21:37496173 [GRCh38] Chr21:38868475 [GRCh37] Chr21:21q22.13	uncertain significance
NC_000021.8:g.(?_37833274)_(39212984_?)dup	duplication	DYRK1A-related intellectual disability syndrome [RCV001370514]	Chr21:37833274..39212984 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1645-5T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001365290]	Chr21:37511906 [GRCh38] Chr21:38884209 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.2220dup (p.Met741fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV001352230]\|not provided [RCV001655717]\|not specified [RCV003331127]	Chr21:37512481..37512482 [GRCh38] Chr21:38884784..38884785 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2045A>T (p.Asp682Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001344131]	Chr21:37512311 [GRCh38] Chr21:38884614 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.476G>T (p.Gly159Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001294451]	Chr21:37480813 [GRCh38] Chr21:38853115 [GRCh37] Chr21:21q22.13	likely pathogenic\|uncertain significance
NM_001347721.2(DYRK1A):c.1171G>C (p.Asp391His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001345241]	Chr21:37496217 [GRCh38] Chr21:38868519 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1111C>T (p.Pro371Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001303254]	Chr21:37496157 [GRCh38] Chr21:38868459 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1217A>G (p.Tyr406Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001313950]	Chr21:37505287 [GRCh38] Chr21:38877590 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1202A>G (p.Asp401Gly)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001348132]	Chr21:37496248 [GRCh38] Chr21:38868550 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1579C>G (p.Arg527Gly)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001326267]	Chr21:37506158 [GRCh38] Chr21:38878461 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1971G>A (p.Ser657=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002070145]\|not provided [RCV001312006]	Chr21:37512237 [GRCh38] Chr21:38884540 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1852C>T (p.Arg618Trp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001360173]	Chr21:37512118 [GRCh38] Chr21:38884421 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.382A>G (p.Asn128Asp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001296935]	Chr21:37480719 [GRCh38] Chr21:38853021 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.446G>A (p.Arg149His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001305682]	Chr21:37480783 [GRCh38] Chr21:38853085 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.833A>G (p.Asp278Gly)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001314065]	Chr21:37490370 [GRCh38] Chr21:38862672 [GRCh37] Chr21:21q22.13	pathogenic\|uncertain significance
NM_001347721.2(DYRK1A):c.1853G>A (p.Arg618Gln)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001327008]\|not provided [RCV002225825]	Chr21:37512119 [GRCh38] Chr21:38884422 [GRCh37] Chr21:21q22.13	benign\|likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1015G>A (p.Gly339Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002246382]\|Intellectual disability [RCV004798912]\|See cases [RCV001420327]	Chr21:37493107 [GRCh38] Chr21:38865409 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001347721.2(DYRK1A):c.1001A>G (p.Asp334Gly)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003770471]\|not provided [RCV003127761]\|not specified [RCV001290619]	Chr21:37493093 [GRCh38] Chr21:38865395 [GRCh37] Chr21:21q22.13	likely pathogenic\|uncertain significance
NM_001347721.2(DYRK1A):c.1673G>T (p.Gly558Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001308928]	Chr21:37511939 [GRCh38] Chr21:38884242 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.977del (p.Gly326fs)	deletion	Intellectual disability [RCV001507301]	Chr21:37493067 [GRCh38] Chr21:38865369 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.924+1G>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV004017843]\|Intellectual disability [RCV001507302]	Chr21:37490462 [GRCh38] Chr21:38862764 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1243del (p.His415fs)	deletion	Intellectual disability [RCV001507305]	Chr21:37505313 [GRCh38] Chr21:38877616 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.737G>A (p.Arg246Gln)	single nucleotide variant	Intellectual disability [RCV001507308]	Chr21:37490274 [GRCh38] Chr21:38862576 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1006del (p.Trp336fs)	deletion	Intellectual disability [RCV001507326]	Chr21:37493098 [GRCh38] Chr21:38865400 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.772C>T (p.Gln258Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001507330]	Chr21:37490309 [GRCh38] Chr21:38862611 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1779T>C (p.His593=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001450193]	Chr21:37512045 [GRCh38] Chr21:38884348 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1651C>G (p.Gln551Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001366071]	Chr21:37511917 [GRCh38] Chr21:38884220 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1593G>A (p.Gly531=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001472968]	Chr21:37506172 [GRCh38] Chr21:38878475 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.450del (p.Arg149_Tyr150insTer)	deletion	Intellectual disability [RCV001507303]	Chr21:37480787 [GRCh38] Chr21:38853089 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1131C>T (p.Asp377=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001394006]\|Inborn genetic diseases [RCV002357303]	Chr21:37496177 [GRCh38] Chr21:38868479 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1213-9C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001490545]	Chr21:37505274 [GRCh38] Chr21:38877577 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.909T>A (p.Cys303Ter)	single nucleotide variant	Intellectual disability [RCV001509580]	Chr21:37490446 [GRCh38] Chr21:38862748 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.763A>T (p.Lys255Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001380327]	Chr21:37490300 [GRCh38] Chr21:38862602 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.2187A>G (p.Thr729=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001465763]	Chr21:37512453 [GRCh38] Chr21:38884756 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2070C>T (p.Asp690=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001436566]	Chr21:37512336 [GRCh38] Chr21:38884639 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2071G>A (p.Val691Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001516438]	Chr21:37512337 [GRCh38] Chr21:38884640 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1092A>C (p.Ile364=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001475691]	Chr21:37496138 [GRCh38] Chr21:38868440 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1341T>C (p.Ile447=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001393298]\|Inborn genetic diseases [RCV002384558]	Chr21:37505411 [GRCh38] Chr21:38877714 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1320C>T (p.Tyr440=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001488296]\|not provided [RCV002298952]	Chr21:37505390 [GRCh38] Chr21:38877693 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.471C>G (p.Gly157=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001443254]	Chr21:37480808 [GRCh38] Chr21:38853110 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.789A>G (p.Ala263=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001430354]	Chr21:37490326 [GRCh38] Chr21:38862628 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2262G>A (p.Ser754=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001446299]	Chr21:37512528 [GRCh38] Chr21:38884831 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2253A>G (p.Val751=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001446558]	Chr21:37512519 [GRCh38] Chr21:38884822 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1527A>T (p.Ser509=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001446636]	Chr21:37506106 [GRCh38] Chr21:38878409 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.490-8T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001407552]	Chr21:37486459 [GRCh38] Chr21:38858761 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2130A>T (p.Thr710=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001446778]	Chr21:37512396 [GRCh38] Chr21:38884699 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1386T>C (p.Tyr462=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001441811]	Chr21:37505456 [GRCh38] Chr21:38877759 [GRCh37] Chr21:21q22.13	likely benign
NC_000021.8:g.(?_38844966)_(38884854_?)del	deletion	DYRK1A-related intellectual disability syndrome [RCV001386639]	Chr21:38844966..38884854 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1259T>C (p.Val420Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001447583]	Chr21:37505329 [GRCh38] Chr21:38877632 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.837A>G (p.Leu279=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001406266]\|Inborn genetic diseases [RCV002377623]	Chr21:37490374 [GRCh38] Chr21:38862676 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.300+233A>C	single nucleotide variant	not provided [RCV001538263]	Chr21:37478533 [GRCh38] Chr21:38850835 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1213-83T>G	single nucleotide variant	not provided [RCV001645195]	Chr21:37505200 [GRCh38] Chr21:38877503 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1743dup (p.Val582fs)	duplication	not provided [RCV001682686]	Chr21:37512008..37512009 [GRCh38] Chr21:38884311..38884312 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.-76-1065A>G	single nucleotide variant	not provided [RCV001690859]	Chr21:37419234 [GRCh38] Chr21:38791536 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.638-104T>A	single nucleotide variant	not provided [RCV001717234]	Chr21:37490071 [GRCh38] Chr21:38862373 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1645-4T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001476260]	Chr21:37511907 [GRCh38] Chr21:38884210 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1566G>A (p.Pro522=)	single nucleotide variant	DYRK1A-related disorder [RCV004738323]\|DYRK1A-related intellectual disability syndrome [RCV001496459]	Chr21:37506145 [GRCh38] Chr21:38878448 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.300+9T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001510915]	Chr21:37478309 [GRCh38] Chr21:38850611 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.207+7T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001466024]	Chr21:37472887 [GRCh38] Chr21:38845189 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2118T>C (p.Ala706=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001483490]	Chr21:37512384 [GRCh38] Chr21:38884687 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.-76-147_-76-144dup	duplication	not provided [RCV001674184]	Chr21:37420150..37420151 [GRCh38] Chr21:38792452..38792453 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.399T>C (p.Asp133=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001489047]\|Inborn genetic diseases [RCV002329590]	Chr21:37480736 [GRCh38] Chr21:38853038 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1308G>A (p.Thr436=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001460926]	Chr21:37505378 [GRCh38] Chr21:38877681 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1794T>C (p.His598=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001464097]	Chr21:37512060 [GRCh38] Chr21:38884363 [GRCh37] Chr21:21q22.13	likely benign
NC_000021.8:g.(?_38844966)_(38845202_?)del	deletion	DYRK1A-related intellectual disability syndrome [RCV001386638]	Chr21:38844966..38845202 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1693C>T (p.Pro565Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001509804]	Chr21:37511959 [GRCh38] Chr21:38884262 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.331C>T (p.Gln111Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001390863]\|not provided [RCV001569195]	Chr21:37480668 [GRCh38] Chr21:38852970 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.2262G>T (p.Ser754=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001465928]	Chr21:37512528 [GRCh38] Chr21:38884831 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.600C>T (p.Leu200=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001423496]	Chr21:37486577 [GRCh38] Chr21:38858879 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.168A>G (p.Leu56=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001483518]	Chr21:37472841 [GRCh38] Chr21:38845143 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1782T>C (p.Gly594=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001393872]	Chr21:37512048 [GRCh38] Chr21:38884351 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.301-8C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001452499]\|not specified [RCV003317499]	Chr21:37480630 [GRCh38] Chr21:38852932 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1649G>A (p.Arg550His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001424723]\|Inborn genetic diseases [RCV002404994]\|not provided [RCV001532451]	Chr21:37511915 [GRCh38] Chr21:38884218 [GRCh37] Chr21:21q22.13	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001347721.2(DYRK1A):c.433_439del (p.Lys145fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV001729976]	Chr21:37480769..37480775 [GRCh38] Chr21:38853071..38853077 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1755A>G (p.Gln585=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003108625]	Chr21:37512021 [GRCh38] Chr21:38884324 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.250_251del (p.Leu84fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV004594629]\|not provided [RCV002255039]	Chr21:37478250..37478251 [GRCh38] Chr21:38850552..38850553 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.925A>G (p.Ile309Val)	single nucleotide variant	not provided [RCV001755065]	Chr21:37493017 [GRCh38] Chr21:38865319 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.451G>A (p.Glu151Lys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003640986]\|not provided [RCV001756284]	Chr21:37480788 [GRCh38] Chr21:38853090 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1750C>T (p.Pro584Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002538817]\|not provided [RCV001760846]	Chr21:37512016 [GRCh38] Chr21:38884319 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.925-11A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003107845]\|not provided [RCV001767808]	Chr21:37493006 [GRCh38] Chr21:38865308 [GRCh37] Chr21:21q22.13	pathogenic\|uncertain significance
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	copy number gain	See cases [RCV001780078]	Chr21:1..48129895 [GRCh37] Chr21:21p13-q22.3	pathogenic
NM_001347721.2(DYRK1A):c.1214_1217dup (p.Tyr406Ter)	duplication	not provided [RCV003238542]	Chr21:37505283..37505284 [GRCh38] Chr21:38877586..38877587 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.955C>A (p.Arg319=)	single nucleotide variant	not provided [RCV004717896]\|not specified [RCV002248087]	Chr21:37493047 [GRCh38] Chr21:38865349 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.924+1G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002251253]	Chr21:37490462 [GRCh38] Chr21:38862764 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.216G>A (p.Met72Ile)	single nucleotide variant	not provided [RCV001758845]	Chr21:37478216 [GRCh38] Chr21:38850518 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2218C>T (p.Pro740Ser)	single nucleotide variant	not provided [RCV001754658]	Chr21:37512484 [GRCh38] Chr21:38884787 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.637+2dup	duplication	DYRK1A-related intellectual disability syndrome [RCV001775231]	Chr21:37486615..37486616 [GRCh38] Chr21:38858917..38858918 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1000_1001del (p.Asp334fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV001775397]	Chr21:37493092..37493093 [GRCh38] Chr21:38865394..38865395 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.636A>G (p.Ile212Met)	single nucleotide variant	not provided [RCV001773026]	Chr21:37486613 [GRCh38] Chr21:38858915 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1210C>T (p.Arg404Trp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001885069]\|not provided [RCV001773321]	Chr21:37496256 [GRCh38] Chr21:38868558 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.2189T>C (p.Met730Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002540592]\|Inborn genetic diseases [RCV002425060]\|not provided [RCV001774535]	Chr21:37512455 [GRCh38] Chr21:38884758 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1856C>T (p.Thr619Ile)	single nucleotide variant	not provided [RCV001767383]	Chr21:37512122 [GRCh38] Chr21:38884425 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.93T>A (p.Ala31=)	single nucleotide variant	not provided [RCV001752454]	Chr21:37472766 [GRCh38] Chr21:38845068 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.411T>A (p.Asp137Glu)	single nucleotide variant	not provided [RCV001752072]	Chr21:37480748 [GRCh38] Chr21:38853050 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.323G>A (p.Arg108Gln)	single nucleotide variant	not provided [RCV001752530]	Chr21:37480660 [GRCh38] Chr21:38852962 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1859G>T (p.Arg620Met)	single nucleotide variant	not provided [RCV001770686]	Chr21:37512125 [GRCh38] Chr21:38884428 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1691C>T (p.Ala564Val)	single nucleotide variant	not provided [RCV001754195]	Chr21:37511957 [GRCh38] Chr21:38884260 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1501A>G (p.Ser501Gly)	single nucleotide variant	SUDDEN INFANT DEATH SYNDROME [RCV001787421]	Chr21:37505571 [GRCh38] Chr21:38877874 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.830G>A (p.Cys277Tyr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001733879]	Chr21:37490367 [GRCh38] Chr21:38862669 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.2261C>G (p.Ser754Trp)	single nucleotide variant	not provided [RCV001758466]	Chr21:37512527 [GRCh38] Chr21:38884830 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.370C>T (p.Arg124Trp)	single nucleotide variant	not provided [RCV001756820]	Chr21:37480707 [GRCh38] Chr21:38853009 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.117G>T (p.Gln39His)	single nucleotide variant	not provided [RCV001758760]	Chr21:37472790 [GRCh38] Chr21:38845092 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1732A>G (p.Thr578Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002542531]\|not specified [RCV001817407]	Chr21:37511998 [GRCh38] Chr21:38884301 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.490-2A>G	single nucleotide variant	not provided [RCV004801624]	Chr21:37486465 [GRCh38] Chr21:38858767 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.638-1G>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001808073]\|Inborn genetic diseases [RCV002541466]	Chr21:37490174 [GRCh38] Chr21:38862476 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.208-17A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002045592]	Chr21:37478191 [GRCh38] Chr21:38850493 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1451T>C (p.Val484Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001874347]	Chr21:37505521 [GRCh38] Chr21:38877824 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2177G>A (p.Gly726Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002050449]	Chr21:37512443 [GRCh38] Chr21:38884746 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2029G>T (p.Ala677Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002013933]	Chr21:37512295 [GRCh38] Chr21:38884598 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.348C>G (p.Asp116Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001866618]	Chr21:37480685 [GRCh38] Chr21:38852987 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001869860]\|Intellectual disability [RCV001843833]\|not provided [RCV002282582]	Chr21:37490364 [GRCh38] Chr21:38862666 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.211C>T (p.Arg71Trp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002037540]	Chr21:37478211 [GRCh38] Chr21:38850513 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1561G>A (p.Asp521Asn)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002019021]	Chr21:37506140 [GRCh38] Chr21:38878443 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1211G>C (p.Arg404Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002020696]	Chr21:37496257 [GRCh38] Chr21:38868559 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2141C>A (p.Ser714Tyr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002046007]	Chr21:37512407 [GRCh38] Chr21:38884710 [GRCh37] Chr21:21q22.13	uncertain significance
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	copy number gain	not specified [RCV002052729]	Chr21:29812033..39282854 [GRCh37] Chr21:21q21.3-22.13	pathogenic
NM_001347721.2(DYRK1A):c.1645G>A (p.Val549Met)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001995122]	Chr21:37511911 [GRCh38] Chr21:38884214 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	copy number gain	not specified [RCV002052725]	Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1330A>G (p.Lys444Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002027459]	Chr21:37505400 [GRCh38] Chr21:38877703 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1541A>T (p.Asn514Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002030358]	Chr21:37506120 [GRCh38] Chr21:38878423 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1375A>T (p.Ile459Phe)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002029698]\|not provided [RCV002265059]	Chr21:37505445 [GRCh38] Chr21:38877748 [GRCh37] Chr21:21q22.13	uncertain significance
GRCh37/hg19 21q22.13(chr21:38721309-38803816)x1	copy number loss	not provided [RCV001832918]	Chr21:38721309..38803816 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.2096C>A (p.Pro699His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002040432]	Chr21:37512362 [GRCh38] Chr21:38884665 [GRCh37] Chr21:21q22.13	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)	copy number gain	not specified [RCV002052723]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1484C>T (p.Ser495Phe)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002044435]	Chr21:37505554 [GRCh38] Chr21:38877857 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.638-6T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001843785]	Chr21:37490169 [GRCh38] Chr21:38862471 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.76G>A (p.Ala26Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002019009]	Chr21:37472749 [GRCh38] Chr21:38845051 [GRCh37] Chr21:21q22.13	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	not provided [RCV001829203]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1115C>T (p.Pro372Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002024625]	Chr21:37496161 [GRCh38] Chr21:38868463 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1519+15G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002036158]	Chr21:37505604 [GRCh38] Chr21:38877907 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	copy number gain	not specified [RCV002052724]	Chr21:15041209..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.2103A>G (p.Gln701=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002016559]	Chr21:37512369 [GRCh38] Chr21:38884672 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.962C>T (p.Pro321Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001837284]	Chr21:37493054 [GRCh38] Chr21:38865356 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.56C>T (p.Pro19Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001924798]\|not provided [RCV003438886]	Chr21:37472729 [GRCh38] Chr21:38845031 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.267_268dup (p.Asp90fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV001953826]	Chr21:37478266..37478267 [GRCh38] Chr21:38850568..38850569 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.488A>G (p.Gln163Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001928857]	Chr21:37480825 [GRCh38] Chr21:38853127 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.293_294dup (p.Asn99fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV001903249]	Chr21:37478292..37478293 [GRCh38] Chr21:38850594..38850595 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.925-1G>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001966294]	Chr21:37493016 [GRCh38] Chr21:38865318 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.208-7G>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001977233]	Chr21:37478201 [GRCh38] Chr21:38850503 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.556G>A (p.Ala186Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001948932]	Chr21:37486533 [GRCh38] Chr21:38858835 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1607C>T (p.Ala536Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001978649]	Chr21:37506186 [GRCh38] Chr21:38878489 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.127C>A (p.Arg43Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001899475]	Chr21:37472800 [GRCh38] Chr21:38845102 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1938G>T (p.Met646Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001932268]	Chr21:37512204 [GRCh38] Chr21:38884507 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.748_749del (p.Leu250fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV001883099]\|not provided [RCV002305631]	Chr21:37490284..37490285 [GRCh38] Chr21:38862586..38862587 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1481A>C (p.Gln494Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001973862]	Chr21:37505551 [GRCh38] Chr21:38877854 [GRCh37] Chr21:21q22.13	uncertain significance
NC_000021.8:g.(?_32439271)_(39212984_?)dup	duplication	Amyotrophic lateral sclerosis type 1 [RCV001939883]\|DYRK1A-related intellectual disability syndrome [RCV003107882]\|Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [RCV004579580]\|Immunodeficiency 28 [RCV004579581]	Chr21:32439271..39212984 [GRCh37] Chr21:21q22.11-22.13	uncertain significance
NM_001347721.2(DYRK1A):c.238G>A (p.Ala80Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001969539]	Chr21:37478238 [GRCh38] Chr21:38850540 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1699C>T (p.Gln567Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001886651]	Chr21:37511965 [GRCh38] Chr21:38884268 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.241A>G (p.Thr81Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001916441]	Chr21:37478241 [GRCh38] Chr21:38850543 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1823A>T (p.His608Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001974787]\|not provided [RCV004694008]	Chr21:37512089 [GRCh38] Chr21:38884392 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.2015A>G (p.Gln672Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001919914]	Chr21:37512281 [GRCh38] Chr21:38884584 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2035A>G (p.Asn679Asp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001889342]	Chr21:37512301 [GRCh38] Chr21:38884604 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1658T>A (p.Phe553Tyr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001892329]	Chr21:37511924 [GRCh38] Chr21:38884227 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1520-5T>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001928642]	Chr21:37506094 [GRCh38] Chr21:38878397 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.693G>A (p.Met231Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001975424]	Chr21:37490230 [GRCh38] Chr21:38862532 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1247A>C (p.Asn416Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001917734]	Chr21:37505317 [GRCh38] Chr21:38877620 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1158dup (p.Glu387Ter)	duplication	DYRK1A-related intellectual disability syndrome [RCV001957513]	Chr21:37496201..37496202 [GRCh38] Chr21:38868503..38868504 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1454C>G (p.Ser485Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001895001]	Chr21:37505524 [GRCh38] Chr21:38877827 [GRCh37] Chr21:21q22.13	uncertain significance
NC_000021.8:g.(?_37507491)_(39212984_?)dup	duplication	not provided [RCV001925516]	Chr21:37507491..39212984 [GRCh37] Chr21:21q22.12-22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1853G>T (p.Arg618Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001938765]	Chr21:37512119 [GRCh38] Chr21:38884422 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1145C>G (p.Ala382Gly)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001881566]	Chr21:37496191 [GRCh38] Chr21:38868493 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1022T>A (p.Ile341Asn)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001986326]	Chr21:37493114 [GRCh38] Chr21:38865416 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.87G>C (p.Gln29His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001986591]	Chr21:37472760 [GRCh38] Chr21:38845062 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.210dup (p.Arg71fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV001987193]	Chr21:37478208..37478209 [GRCh38] Chr21:38850510..38850511 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1879C>T (p.Pro627Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001894807]	Chr21:37512145 [GRCh38] Chr21:38884448 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1502_1506del (p.Ser501fs)	deletion	not provided [RCV002224351]	Chr21:37505570..37505574 [GRCh38] Chr21:38877873..38877877 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1213-21_1213-17del	deletion	DYRK1A-related intellectual disability syndrome [RCV002189196]	Chr21:37505261..37505265 [GRCh38] Chr21:38877564..38877568 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1623C>T (p.Asp541=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002090704]	Chr21:37506202 [GRCh38] Chr21:38878505 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.990C>T (p.Asp330=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002089223]	Chr21:37493082 [GRCh38] Chr21:38865384 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.638-14_638-13del	deletion	DYRK1A-related intellectual disability syndrome [RCV002091864]\|not provided [RCV003443008]	Chr21:37490160..37490161 [GRCh38] Chr21:38862462..38862463 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1884G>A (p.Thr628=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002111877]	Chr21:37512150 [GRCh38] Chr21:38884453 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.694C>T (p.Leu232=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002188806]	Chr21:37490231 [GRCh38] Chr21:38862533 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.301-13A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002185421]	Chr21:37480625 [GRCh38] Chr21:38852927 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.651C>T (p.Arg217=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002091708]	Chr21:37490188 [GRCh38] Chr21:38862490 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.300+18A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002192702]	Chr21:37478318 [GRCh38] Chr21:38850620 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.638-1G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002249923]	Chr21:37490174 [GRCh38] Chr21:38862476 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.171A>G (p.Ser57=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002110889]	Chr21:37472844 [GRCh38] Chr21:38845146 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1734A>C (p.Thr578=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002109566]	Chr21:37512000 [GRCh38] Chr21:38884303 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.489+4A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002209721]	Chr21:37480830 [GRCh38] Chr21:38853132 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1338C>T (p.Leu446=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002146148]	Chr21:37505408 [GRCh38] Chr21:38877711 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1565C>T (p.Pro522Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002088444]	Chr21:37506144 [GRCh38] Chr21:38878447 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.771G>T (p.Ala257=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002165220]	Chr21:37490308 [GRCh38] Chr21:38862610 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1635C>T (p.His545=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002187342]\|not provided [RCV004704698]	Chr21:37506214 [GRCh38] Chr21:38878517 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1213-3C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002214735]	Chr21:37505280 [GRCh38] Chr21:38877583 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.699C>T (p.Ser233=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002175013]	Chr21:37490236 [GRCh38] Chr21:38862538 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1542C>T (p.Asn514=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002152580]	Chr21:37506121 [GRCh38] Chr21:38878424 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.11-7C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002080995]	Chr21:37472677 [GRCh38] Chr21:38844979 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.638-11T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002175034]	Chr21:37490164 [GRCh38] Chr21:38862466 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1227A>G (p.Pro409=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002197282]	Chr21:37505297 [GRCh38] Chr21:38877600 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1519+14C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002097389]	Chr21:37505603 [GRCh38] Chr21:38877906 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.638-16C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002086817]	Chr21:37490159 [GRCh38] Chr21:38862461 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.497dup (p.Ala167fs)	duplication	not provided [RCV002214240]	Chr21:37486471..37486472 [GRCh38] Chr21:38858773..38858774 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.925-17T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002149366]	Chr21:37493000 [GRCh38] Chr21:38865302 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1508C>G (p.Ser503Trp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002077648]	Chr21:37505578 [GRCh38] Chr21:38877881 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1932C>T (p.His644=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002172402]	Chr21:37512198 [GRCh38] Chr21:38884501 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.301-18T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002208340]	Chr21:37480620 [GRCh38] Chr21:38852922 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1461C>T (p.Ser487=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002211559]\|not provided [RCV003883757]	Chr21:37505531 [GRCh38] Chr21:38877834 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2205T>C (p.Asp735=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002151257]	Chr21:37512471 [GRCh38] Chr21:38884774 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.300+22_300+24del	microsatellite	DYRK1A-related intellectual disability syndrome [RCV002195647]	Chr21:37478318..37478320 [GRCh38] Chr21:38850620..38850622 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2241A>G (p.Gln747=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002121022]	Chr21:37512507 [GRCh38] Chr21:38884810 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1827C>T (p.His609=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002202198]	Chr21:37512093 [GRCh38] Chr21:38884396 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1644+17T>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002123841]	Chr21:37506240 [GRCh38] Chr21:38878543 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.219C>G (p.Pro73=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002158563]	Chr21:37478219 [GRCh38] Chr21:38850521 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.627A>G (p.Lys209=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002217694]\|Inborn genetic diseases [RCV002361472]	Chr21:37486604 [GRCh38] Chr21:38858906 [GRCh37] Chr21:21q22.13	benign\|likely benign
NM_001347721.2(DYRK1A):c.925-9A>G	single nucleotide variant	DYRK1A-related disorder [RCV004543749]\|DYRK1A-related intellectual disability syndrome [RCV002217086]	Chr21:37493008 [GRCh38] Chr21:38865310 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.330C>T (p.His110=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002219084]	Chr21:37480667 [GRCh38] Chr21:38852969 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1554C>T (p.Ala518=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002184269]	Chr21:37506133 [GRCh38] Chr21:38878436 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.715T>C (p.Leu239=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002159628]	Chr21:37490252 [GRCh38] Chr21:38862554 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.54A>G (p.Ala18=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002141147]	Chr21:37472727 [GRCh38] Chr21:38845029 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.638-20_638-16del	deletion	DYRK1A-related intellectual disability syndrome [RCV002100853]	Chr21:37490155..37490159 [GRCh38] Chr21:38862457..38862461 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.7A>G (p.Thr3Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002136835]	Chr21:37420381 [GRCh38] Chr21:38792683 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1458A>C (p.Thr486=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002159373]	Chr21:37505528 [GRCh38] Chr21:38877831 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1945C>T (p.Leu649=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002099935]	Chr21:37512211 [GRCh38] Chr21:38884514 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1685C>G (p.Thr562Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002158261]\|Inborn genetic diseases [RCV003289451]	Chr21:37511951 [GRCh38] Chr21:38884254 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1497C>T (p.Thr499=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002198153]	Chr21:37505567 [GRCh38] Chr21:38877870 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1644+11A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002183648]	Chr21:37506234 [GRCh38] Chr21:38878537 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1638T>C (p.Ser546=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002159929]	Chr21:37506217 [GRCh38] Chr21:38878520 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.816T>C (p.Leu272=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002182032]	Chr21:37490353 [GRCh38] Chr21:38862655 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.924+12T>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002099127]	Chr21:37490473 [GRCh38] Chr21:38862775 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.963A>C (p.Pro321=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002199234]	Chr21:37493055 [GRCh38] Chr21:38865357 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1690G>A (p.Ala564Thr)	single nucleotide variant	not provided [RCV004784470]	Chr21:37511956 [GRCh38] Chr21:38884259 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.550_551del (p.Lys184fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV004784975]	Chr21:37486527..37486528 [GRCh38] Chr21:38858829..38858830 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.638-15T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003111857]	Chr21:37490160 [GRCh38] Chr21:38862462 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1198A>G (p.Lys400Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003111979]	Chr21:37496244 [GRCh38] Chr21:38868546 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1647G>T (p.Val549=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003114803]	Chr21:37511913 [GRCh38] Chr21:38884216 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2227G>C (p.Gly743Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV004790137]	Chr21:37512493 [GRCh38] Chr21:38884796 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1837C>T (p.Gln613Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003128307]	Chr21:37512103 [GRCh38] Chr21:38884406 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.840dup (p.Pro281fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV002255087]	Chr21:37490373..37490374 [GRCh38] Chr21:38862675..38862676 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.367G>T (p.Glu123Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002287858]	Chr21:37480704 [GRCh38] Chr21:38853006 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1106G>T (p.Gly369Val)	single nucleotide variant	not provided [RCV002278930]	Chr21:37496152 [GRCh38] Chr21:38868454 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1589G>A (p.Gly530Asp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641010]\|not provided [RCV002288229]	Chr21:37506168 [GRCh38] Chr21:38878471 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1810C>G (p.His604Asp)	single nucleotide variant	not provided [RCV002265505]	Chr21:37512076 [GRCh38] Chr21:38884379 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.701dup (p.Tyr234Ter)	duplication	DYRK1A-related intellectual disability syndrome [RCV002290279]	Chr21:37490237..37490238 [GRCh38] Chr21:38862539..38862540 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1224dup (p.Pro409fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV002290311]	Chr21:37505293..37505294 [GRCh38] Chr21:38877596..38877597 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1931A>G (p.His644Arg)	single nucleotide variant	not provided [RCV002291439]	Chr21:37512197 [GRCh38] Chr21:38884500 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.383A>G (p.Asn128Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641007]\|not provided [RCV002260733]	Chr21:37480720 [GRCh38] Chr21:38853022 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.131G>A (p.Arg44His)	single nucleotide variant	Inborn genetic diseases [RCV002385653]	Chr21:37472804 [GRCh38] Chr21:38845106 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.262del (p.Ser88fs)	deletion	Inborn genetic diseases [RCV002438020]	Chr21:37478260 [GRCh38] Chr21:38850562 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.522A>G (p.Glu174=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003096768]\|Inborn genetic diseases [RCV002351585]	Chr21:37486499 [GRCh38] Chr21:38858801 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1543A>G (p.Ser515Gly)	single nucleotide variant	not provided [RCV002286974]	Chr21:37506122 [GRCh38] Chr21:38878425 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1114_1133del (p.Pro372fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV002289115]	Chr21:37496157..37496176 [GRCh38] Chr21:38868459..38868478 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1870T>A (p.Tyr624Asn)	single nucleotide variant	not provided [RCV003129140]	Chr21:37512136 [GRCh38] Chr21:38884439 [GRCh37] Chr21:21q22.13	uncertain significance
GRCh37/hg19 21q22.13(chr21:38131869-38787404)x3	copy number gain	not provided [RCV002474701]	Chr21:38131869..38787404 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1615G>T (p.Ala539Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002472175]	Chr21:37506194 [GRCh38] Chr21:38878497 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.848dup (p.Asn283fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV002463582]	Chr21:37490381..37490382 [GRCh38] Chr21:38862683..38862684 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1172A>T (p.Asp391Val)	single nucleotide variant	not specified [RCV004799930]	Chr21:37496218 [GRCh38] Chr21:38868520 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1271dup (p.Pro425fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV003233277]	Chr21:37505339..37505340 [GRCh38] Chr21:38877642..38877643 [GRCh37] Chr21:21q22.13	not provided
NM_001347721.2(DYRK1A):c.986dup (p.Tyr329Ter)	duplication	DYRK1A-related intellectual disability syndrome [RCV002302431]	Chr21:37493077..37493078 [GRCh38] Chr21:38865379..38865380 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.735C>T (p.Phe245=)	single nucleotide variant	Inborn genetic diseases [RCV002396297]	Chr21:37490272 [GRCh38] Chr21:38862574 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.290A>G (p.His97Arg)	single nucleotide variant	Inborn genetic diseases [RCV002322712]	Chr21:37478290 [GRCh38] Chr21:38850592 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.208-14T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005058255]\|not provided [RCV002305958]	Chr21:37478194 [GRCh38] Chr21:38850496 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.848A>G (p.Asn283Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002297778]	Chr21:37490385 [GRCh38] Chr21:38862687 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1048C>G (p.Pro350Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002302310]\|not provided [RCV003229086]	Chr21:37493140 [GRCh38] Chr21:38865442 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1626C>T (p.Cys542=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003121007]\|Inborn genetic diseases [RCV002403691]	Chr21:37506205 [GRCh38] Chr21:38878508 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2162A>G (p.His721Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003101116]\|Inborn genetic diseases [RCV002425526]	Chr21:37512428 [GRCh38] Chr21:38884731 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1136C>T (p.Ala379Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002297941]\|not provided [RCV004794581]	Chr21:37496182 [GRCh38] Chr21:38868484 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.886A>G (p.Ile296Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641036]\|Inborn genetic diseases [RCV002378756]	Chr21:37490423 [GRCh38] Chr21:38862725 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2146A>G (p.Asn716Asp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002303504]	Chr21:37512412 [GRCh38] Chr21:38884715 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.821T>G (p.Ile274Ser)	single nucleotide variant	Inborn genetic diseases [RCV002447668]	Chr21:37490358 [GRCh38] Chr21:38862660 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1433C>T (p.Thr478Ile)	single nucleotide variant	not provided [RCV002309005]	Chr21:37505503 [GRCh38] Chr21:38877806 [GRCh37] Chr21:21q22.13	likely pathogenic\|uncertain significance
NM_001347721.2(DYRK1A):c.1218C>G (p.Tyr406Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV004594643]\|Inborn genetic diseases [RCV002393788]	Chr21:37505288 [GRCh38] Chr21:38877591 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.156G>A (p.Gln52=)	single nucleotide variant	Inborn genetic diseases [RCV002405636]	Chr21:37472829 [GRCh38] Chr21:38845131 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1230A>G (p.Gly410=)	single nucleotide variant	not provided [RCV002306324]	Chr21:37505300 [GRCh38] Chr21:38877603 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.406T>C (p.Tyr136His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002295724]	Chr21:37480743 [GRCh38] Chr21:38853045 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.964G>A (p.Glu322Lys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002302962]\|not provided [RCV003438993]	Chr21:37493056 [GRCh38] Chr21:38865358 [GRCh37] Chr21:21q22.13	likely pathogenic\|uncertain significance
NM_001347721.2(DYRK1A):c.301-9T>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003013774]	Chr21:37480629 [GRCh38] Chr21:38852931 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2027T>A (p.Val676Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003012322]	Chr21:37512293 [GRCh38] Chr21:38884596 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.509G>A (p.Arg170His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002904429]	Chr21:37486486 [GRCh38] Chr21:38858788 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1898C>T (p.Thr633Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002775541]	Chr21:37512164 [GRCh38] Chr21:38884467 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.46C>T (p.Arg16Trp)	single nucleotide variant	not provided [RCV002461791]	Chr21:37472719 [GRCh38] Chr21:38845021 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.11-11T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002775516]	Chr21:37472673 [GRCh38] Chr21:38844975 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1213-3C>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002863685]	Chr21:37505280 [GRCh38] Chr21:38877583 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.2237_2238del (p.Val746fs)	microsatellite	DYRK1A-related intellectual disability syndrome [RCV002908147]\|not provided [RCV003322928]	Chr21:37512499..37512500 [GRCh38] Chr21:38884802..38884803 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1785del (p.Asn595fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV002994230]	Chr21:37512051 [GRCh38] Chr21:38884354 [GRCh37] Chr21:21q22.13	pathogenic\|uncertain significance
NM_001347721.2(DYRK1A):c.853C>A (p.Leu285Ile)	single nucleotide variant	not provided [RCV002461777]	Chr21:37490390 [GRCh38] Chr21:38862692 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1476del (p.Gln492fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV002842306]	Chr21:37505546 [GRCh38] Chr21:38877849 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.637+2_637+13del	deletion	DYRK1A-related intellectual disability syndrome [RCV002880374]	Chr21:37486613..37486624 [GRCh38] Chr21:38858915..38858926 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1653G>A (p.Gln551=)	single nucleotide variant	DYRK1A-related disorder [RCV004534173]\|DYRK1A-related intellectual disability syndrome [RCV002734791]	Chr21:37511919 [GRCh38] Chr21:38884222 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1821CCA[5] (p.His610_Gly611insHisHis)	microsatellite	DYRK1A-related intellectual disability syndrome [RCV003776056]\|not provided [RCV002512040]	Chr21:37512084..37512085 [GRCh38] Chr21:38884387..38884388 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.237A>G (p.Pro79=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002880818]	Chr21:37478237 [GRCh38] Chr21:38850539 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2077T>C (p.Leu693=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002863411]	Chr21:37512343 [GRCh38] Chr21:38884646 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1012C>T (p.Leu338Phe)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002838432]	Chr21:37493104 [GRCh38] Chr21:38865406 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.490-3T>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002994060]	Chr21:37486464 [GRCh38] Chr21:38858766 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1496C>T (p.Thr499Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003032656]	Chr21:37505566 [GRCh38] Chr21:38877869 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1867G>T (p.Val623Phe)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002841964]	Chr21:37512133 [GRCh38] Chr21:38884436 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1871A>G (p.Tyr624Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002996329]	Chr21:37512137 [GRCh38] Chr21:38884440 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.321G>A (p.Lys107=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002908587]	Chr21:37480658 [GRCh38] Chr21:38852960 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2089T>C (p.Ser697Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002908441]	Chr21:37512355 [GRCh38] Chr21:38884658 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.490-13T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002819884]	Chr21:37486454 [GRCh38] Chr21:38858756 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1587_1588dup (p.Gly530fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV002862062]	Chr21:37506164..37506165 [GRCh38] Chr21:38878467..38878468 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.301-2A>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002858116]	Chr21:37480636 [GRCh38] Chr21:38852938 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.208-14T>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002967769]	Chr21:37478194 [GRCh38] Chr21:38850496 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.676dup (p.Cys226fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV004819264]	Chr21:37490212..37490213 [GRCh38] Chr21:38862514..38862515 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.584del (p.Val195fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV004819265]	Chr21:37486561 [GRCh38] Chr21:38858863 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.225C>T (p.Thr75=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002843381]	Chr21:37478225 [GRCh38] Chr21:38850527 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.11-20C>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003016274]	Chr21:37472664 [GRCh38] Chr21:38844966 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1152G>A (p.Lys384=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002847269]	Chr21:37496198 [GRCh38] Chr21:38868500 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2022C>A (p.Arg674=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003055793]	Chr21:37512288 [GRCh38] Chr21:38884591 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2148T>C (p.Asn716=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002796791]	Chr21:37512414 [GRCh38] Chr21:38884717 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.637+10C>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002867360]	Chr21:37486624 [GRCh38] Chr21:38858926 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.787G>T (p.Ala263Ser)	single nucleotide variant	Inborn genetic diseases [RCV002708158]	Chr21:37490324 [GRCh38] Chr21:38862626 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1072-16T>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002871488]	Chr21:37496102 [GRCh38] Chr21:38868404 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.241A>T (p.Thr81Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002795985]	Chr21:37478241 [GRCh38] Chr21:38850543 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1864A>G (p.Arg622Gly)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002847648]	Chr21:37512130 [GRCh38] Chr21:38884433 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1825C>T (p.His609Tyr)	single nucleotide variant	not provided [RCV002510214]	Chr21:37512091 [GRCh38] Chr21:38884394 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.60A>G (p.Ser20=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002912459]	Chr21:37472733 [GRCh38] Chr21:38845035 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.490-13T>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003020650]	Chr21:37486454 [GRCh38] Chr21:38858756 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1072-13A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002998904]	Chr21:37496105 [GRCh38] Chr21:38868407 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1800_1808del (p.His608_His610del)	deletion	DYRK1A-related intellectual disability syndrome [RCV003019858]	Chr21:37512061..37512069 [GRCh38] Chr21:38884364..38884372 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1212+9del	deletion	DYRK1A-related intellectual disability syndrome [RCV003079522]	Chr21:37496266 [GRCh38] Chr21:38868568 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.57G>A (p.Pro19=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002912458]	Chr21:37472730 [GRCh38] Chr21:38845032 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.499G>C (p.Ala167Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003038356]	Chr21:37486476 [GRCh38] Chr21:38858778 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.288G>A (p.Lys96=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002927569]	Chr21:37478288 [GRCh38] Chr21:38850590 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1818_1820del (p.His610del)	deletion	DYRK1A-related intellectual disability syndrome [RCV002796427]	Chr21:37512082..37512084 [GRCh38] Chr21:38884385..38884387 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1519+14C>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002948561]	Chr21:37505603 [GRCh38] Chr21:38877906 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.421A>G (p.Lys141Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002662614]	Chr21:37480758 [GRCh38] Chr21:38853060 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1645-3C>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003035932]	Chr21:37511908 [GRCh38] Chr21:38884211 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1548G>T (p.Gly516=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002890271]	Chr21:37506127 [GRCh38] Chr21:38878430 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1790C>A (p.Ser597Tyr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002805709]\|Inborn genetic diseases [RCV004973628]	Chr21:37512056 [GRCh38] Chr21:38884359 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1213-10T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002851172]	Chr21:37505273 [GRCh38] Chr21:38877576 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1519+17T>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003040523]	Chr21:37505606 [GRCh38] Chr21:38877909 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.930C>G (p.Tyr310Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003022871]\|not provided [RCV004725461]	Chr21:37493022 [GRCh38] Chr21:38865324 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.214A>G (p.Met72Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002700301]	Chr21:37478214 [GRCh38] Chr21:38850516 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1554C>G (p.Ala518=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002623772]	Chr21:37506133 [GRCh38] Chr21:38878436 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1509_1511del (p.Ser506del)	deletion	DYRK1A-related intellectual disability syndrome [RCV003040396]	Chr21:37505577..37505579 [GRCh38] Chr21:38877880..38877882 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.754C>T (p.Leu252=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002644323]	Chr21:37490291 [GRCh38] Chr21:38862593 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1753C>T (p.Gln585Ter)	single nucleotide variant	DYRK1A-related disorder [RCV004536425]\|DYRK1A-related intellectual disability syndrome [RCV002894388]	Chr21:37512019 [GRCh38] Chr21:38884322 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.660G>A (p.Met220Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003025501]	Chr21:37490197 [GRCh38] Chr21:38862499 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.637+19A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002710406]	Chr21:37486633 [GRCh38] Chr21:38858935 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1644+12C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002575358]	Chr21:37506235 [GRCh38] Chr21:38878538 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.490-16_490-13del	deletion	DYRK1A-related intellectual disability syndrome [RCV003042446]	Chr21:37486449..37486452 [GRCh38] Chr21:38858751..38858754 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.198A>G (p.Leu66=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002572244]	Chr21:37472871 [GRCh38] Chr21:38845173 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1645-19T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002649990]	Chr21:37511892 [GRCh38] Chr21:38884195 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.949T>G (p.Phe317Val)	single nucleotide variant	Inborn genetic diseases [RCV002702792]	Chr21:37493041 [GRCh38] Chr21:38865343 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1259_1260dup (p.Glu421fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV002810940]	Chr21:37505327..37505328 [GRCh38] Chr21:38877630..38877631 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.785C>G (p.Thr262Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002834704]	Chr21:37490322 [GRCh38] Chr21:38862624 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.930C>A (p.Tyr310Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002601874]	Chr21:37493022 [GRCh38] Chr21:38865324 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.490-18A>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002675666]	Chr21:37486449 [GRCh38] Chr21:38858751 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.270C>T (p.Asp90=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003010353]	Chr21:37478270 [GRCh38] Chr21:38850572 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2227G>A (p.Gly743Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003009776]	Chr21:37512493 [GRCh38] Chr21:38884796 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.852C>A (p.Ile284=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002899427]	Chr21:37490389 [GRCh38] Chr21:38862691 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1746A>G (p.Val582=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002833462]	Chr21:37512012 [GRCh38] Chr21:38884315 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2113A>G (p.Ile705Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002597936]	Chr21:37512379 [GRCh38] Chr21:38884682 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.208-30A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002599373]	Chr21:37478178 [GRCh38] Chr21:38850480 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1071+14T>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003048120]	Chr21:37493177 [GRCh38] Chr21:38865479 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1191_1192insTT (p.Lys398fs)	insertion	DYRK1A-related intellectual disability syndrome [RCV003027820]	Chr21:37496237..37496238 [GRCh38] Chr21:38868539..38868540 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.732T>C (p.Asn244=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002600040]	Chr21:37490269 [GRCh38] Chr21:38862571 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.902G>A (p.Ser301Asn)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003028969]	Chr21:37490439 [GRCh38] Chr21:38862741 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.565A>G (p.Asn189Asp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003029557]	Chr21:37486542 [GRCh38] Chr21:38858844 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2220C>T (p.Pro740=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002581744]	Chr21:37512486 [GRCh38] Chr21:38884789 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1756C>G (p.Gln586Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003045455]	Chr21:37512022 [GRCh38] Chr21:38884325 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.915G>C (p.Leu305Phe)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002672265]	Chr21:37490452 [GRCh38] Chr21:38862754 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2141C>G (p.Ser714Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003029739]	Chr21:37512407 [GRCh38] Chr21:38884710 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1569G>A (p.Thr523=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002942816]	Chr21:37506148 [GRCh38] Chr21:38878451 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.880A>G (p.Ile294Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003069850]	Chr21:37490417 [GRCh38] Chr21:38862719 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.95G>T (p.Gly32Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003067018]	Chr21:37472768 [GRCh38] Chr21:38845070 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1886A>G (p.Asn629Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002725435]	Chr21:37512152 [GRCh38] Chr21:38884455 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1958C>T (p.Thr653Met)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003066579]	Chr21:37512224 [GRCh38] Chr21:38884527 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1909A>G (p.Met637Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002588653]\|Inborn genetic diseases [RCV004068851]\|Neurodevelopmental disorder [RCV004587432]	Chr21:37512175 [GRCh38] Chr21:38884478 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.197dup (p.Thr67fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV003051914]\|Inborn genetic diseases [RCV003170934]	Chr21:37472869..37472870 [GRCh38] Chr21:38845171..38845172 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1017G>A (p.Gly339=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003066339]	Chr21:37493109 [GRCh38] Chr21:38865411 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1818_1823dup (p.His610_Gly611insHisHis)	duplication	DYRK1A-related intellectual disability syndrome [RCV002586530]	Chr21:37512078..37512079 [GRCh38] Chr21:38884381..38884382 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.10+5C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003070138]	Chr21:37420389 [GRCh38] Chr21:38792691 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.917G>A (p.Gly306Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV002587490]	Chr21:37490454 [GRCh38] Chr21:38862756 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1803CCA[3] (p.His609_His610del)	microsatellite	DYRK1A-related intellectual disability syndrome [RCV002612335]	Chr21:37512067..37512072 [GRCh38] Chr21:38884370..38884375 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.489+1G>A	single nucleotide variant	not provided [RCV003154385]	Chr21:37480827 [GRCh38] Chr21:38853129 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1520-1G>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV004797546]	Chr21:37506098 [GRCh38] Chr21:38878401 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1622A>G (p.Asp541Gly)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV004785926]	Chr21:37506201 [GRCh38] Chr21:38878504 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.69C>A (p.Phe23Leu)	single nucleotide variant	not provided [RCV003225518]	Chr21:37472742 [GRCh38] Chr21:38845044 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1325A>G (p.Lys442Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003146913]	Chr21:37505395 [GRCh38] Chr21:38877698 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1570C>T (p.His524Tyr)	single nucleotide variant	not provided [RCV003225278]	Chr21:37506149 [GRCh38] Chr21:38878452 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.840del (p.Lys280fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV003225713]	Chr21:37490374 [GRCh38] Chr21:38862676 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1493C>T (p.Thr498Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003146911]	Chr21:37505563 [GRCh38] Chr21:38877866 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.611A>G (p.His204Arg)	single nucleotide variant	not provided [RCV003224017]	Chr21:37486588 [GRCh38] Chr21:38858890 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1072-1G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003223502]	Chr21:37496117 [GRCh38] Chr21:38868419 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.2018A>G (p.Asn673Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003146914]	Chr21:37512284 [GRCh38] Chr21:38884587 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.871C>T (p.Arg291Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003224995]	Chr21:37490408 [GRCh38] Chr21:38862710 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.196C>G (p.Leu66Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003146910]	Chr21:37472869 [GRCh38] Chr21:38845171 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1071+1_1071+2dup	duplication	DYRK1A-related intellectual disability syndrome [RCV003146912]	Chr21:37493163..37493164 [GRCh38] Chr21:38865465..38865466 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.473A>T (p.Lys158Ile)	single nucleotide variant	not provided [RCV003325128]	Chr21:37480810 [GRCh38] Chr21:38853112 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1526C>G (p.Ser509Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003322724]	Chr21:37506105 [GRCh38] Chr21:38878408 [GRCh37] Chr21:21q22.13	pathogenic\|likely pathogenic
NM_001347721.2(DYRK1A):c.-76-13T>A	single nucleotide variant	not provided [RCV003319923]	Chr21:37420286 [GRCh38] Chr21:38792588 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.436T>A (p.Trp146Arg)	single nucleotide variant	not provided [RCV003327090]	Chr21:37480773 [GRCh38] Chr21:38853075 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.511G>A (p.Val171Met)	single nucleotide variant	not provided [RCV003440560]	Chr21:37486488 [GRCh38] Chr21:38858790 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.665G>A (p.Arg222Gln)	single nucleotide variant	not provided [RCV003440561]	Chr21:37490202 [GRCh38] Chr21:38862504 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.794T>C (p.Leu265Pro)	single nucleotide variant	DYRK1A-related disorder [RCV004531642]	Chr21:37490331 [GRCh38] Chr21:38862633 [GRCh37] Chr21:21q22.13	likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	copy number gain	not provided [RCV003485218]	Chr21:15006458..45674637 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	copy number gain	not provided [RCV003485222]	Chr21:33015681..48097372 [GRCh37] Chr21:21q22.11-22.3	pathogenic
NM_001347721.2(DYRK1A):c.2087A>G (p.Tyr696Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005105233]\|not provided [RCV004810190]	Chr21:37512353 [GRCh38] Chr21:38884656 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.263C>G (p.Ser88Cys)	single nucleotide variant	Neurodevelopmental disorder [RCV003389148]	Chr21:37478263 [GRCh38] Chr21:38850565 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.905C>A (p.Ser302Tyr)	single nucleotide variant	not provided [RCV003440562]	Chr21:37490442 [GRCh38] Chr21:38862744 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.454A>G (p.Ile152Val)	single nucleotide variant	not provided [RCV003440559]	Chr21:37480791 [GRCh38] Chr21:38853093 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1927C>T (p.His643Tyr)	single nucleotide variant	not provided [RCV003441238]	Chr21:37512193 [GRCh38] Chr21:38884496 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1135_1141del (p.Ala379fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV003441169]	Chr21:37496176..37496182 [GRCh38] Chr21:38868478..38868484 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1072-3C>G	single nucleotide variant	DYRK1A-related disorder [RCV004534388]	Chr21:37496115 [GRCh38] Chr21:38868417 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.872G>A (p.Arg291His)	single nucleotide variant	not provided [RCV003431496]	Chr21:37490409 [GRCh38] Chr21:38862711 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.517C>G (p.Gln173Glu)	single nucleotide variant	not provided [RCV003431495]	Chr21:37486494 [GRCh38] Chr21:38858796 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1506A>G (p.Thr502=)	single nucleotide variant	not provided [RCV003443980]	Chr21:37505576 [GRCh38] Chr21:38877879 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.11-16394C>T	single nucleotide variant	not provided [RCV003440558]	Chr21:37456290 [GRCh38] Chr21:38828592 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1644+58A>G	single nucleotide variant	DYRK1A-related disorder [RCV004531719]	Chr21:37506281 [GRCh38] Chr21:38878584 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1072G>A (p.Val358Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003527641]	Chr21:37496118 [GRCh38] Chr21:38868420 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1772A>G (p.His591Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003527692]\|not provided [RCV003886631]	Chr21:37512038 [GRCh38] Chr21:38884341 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1520-13T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529290]	Chr21:37506086 [GRCh38] Chr21:38878389 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.637+20G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003527788]	Chr21:37486634 [GRCh38] Chr21:38858936 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1135G>A (p.Ala379Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529095]	Chr21:37496181 [GRCh38] Chr21:38868483 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1289C>A (p.Ala430Asp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529141]	Chr21:37505359 [GRCh38] Chr21:38877662 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1811A>T (p.His604Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003527885]	Chr21:37512077 [GRCh38] Chr21:38884380 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.988G>T (p.Asp330Tyr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529357]	Chr21:37493080 [GRCh38] Chr21:38865382 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1987A>G (p.Thr663Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003830628]	Chr21:37512253 [GRCh38] Chr21:38884556 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.684T>A (p.Val228=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529281]	Chr21:37490221 [GRCh38] Chr21:38862523 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1215G>A (p.Glu405=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003527800]	Chr21:37505285 [GRCh38] Chr21:38877588 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.986A>G (p.Tyr329Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529674]	Chr21:37493078 [GRCh38] Chr21:38865380 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.258A>G (p.Lys86=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003527989]	Chr21:37478258 [GRCh38] Chr21:38850560 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1617C>G (p.Ala539=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003528566]	Chr21:37506196 [GRCh38] Chr21:38878499 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.468A>C (p.Ile156=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003528609]	Chr21:37480805 [GRCh38] Chr21:38853107 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1471G>C (p.Glu491Gln)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529757]	Chr21:37505541 [GRCh38] Chr21:38877844 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1972A>G (p.Thr658Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003528935]	Chr21:37512238 [GRCh38] Chr21:38884541 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.658A>T (p.Met220Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003528868]	Chr21:37490195 [GRCh38] Chr21:38862497 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1224A>G (p.Pro408=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529305]	Chr21:37505294 [GRCh38] Chr21:38877597 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1919G>A (p.Gly640Asp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003527708]	Chr21:37512185 [GRCh38] Chr21:38884488 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1544G>C (p.Ser515Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003528543]	Chr21:37506123 [GRCh38] Chr21:38878426 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1832G>A (p.Gly611Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003527840]	Chr21:37512098 [GRCh38] Chr21:38884401 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1644+9G>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529459]	Chr21:37506232 [GRCh38] Chr21:38878535 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1957A>G (p.Thr653Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529133]	Chr21:37512223 [GRCh38] Chr21:38884526 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.851T>C (p.Ile284Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003528938]	Chr21:37490388 [GRCh38] Chr21:38862690 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.10+18A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003528967]	Chr21:37420402 [GRCh38] Chr21:38792704 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.413A>G (p.Tyr138Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529292]	Chr21:37480750 [GRCh38] Chr21:38853052 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1764A>T (p.Ala588=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003527664]	Chr21:37512030 [GRCh38] Chr21:38884333 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.985dup (p.Tyr329fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV003528908]	Chr21:37493075..37493076 [GRCh38] Chr21:38865377..38865378 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1832G>T (p.Gly611Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529734]	Chr21:37512098 [GRCh38] Chr21:38884401 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.129T>C (p.Arg43=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003828917]	Chr21:37472802 [GRCh38] Chr21:38845104 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.254G>T (p.Arg85Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003527734]	Chr21:37478254 [GRCh38] Chr21:38850556 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.134A>T (p.Gln45Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529373]	Chr21:37472807 [GRCh38] Chr21:38845109 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.944G>A (p.Ser315Asn)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529773]	Chr21:37493036 [GRCh38] Chr21:38865338 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.774A>G (p.Gln258=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003878118]	Chr21:37490311 [GRCh38] Chr21:38862613 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2095C>A (p.Pro699Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003527760]	Chr21:37512361 [GRCh38] Chr21:38884664 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2014del (p.Gln672fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV003528484]	Chr21:37512279 [GRCh38] Chr21:38884582 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.365A>G (p.Lys122Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003528504]	Chr21:37480702 [GRCh38] Chr21:38853004 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.925-3C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003528980]	Chr21:37493014 [GRCh38] Chr21:38865316 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1615G>A (p.Ala539Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003527794]	Chr21:37506194 [GRCh38] Chr21:38878497 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1935C>T (p.Ser645=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529419]	Chr21:37512201 [GRCh38] Chr21:38884504 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.475G>C (p.Gly159Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003494077]	Chr21:37480812 [GRCh38] Chr21:38853114 [GRCh37] Chr21:21q22.13	likely pathogenic\|uncertain significance
NM_001347721.2(DYRK1A):c.473A>G (p.Lys158Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529061]	Chr21:37480810 [GRCh38] Chr21:38853112 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.490-1G>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003528606]	Chr21:37486466 [GRCh38] Chr21:38858768 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.128G>C (p.Arg43Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003528613]	Chr21:37472801 [GRCh38] Chr21:38845103 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1815C>T (p.His605=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003527970]	Chr21:37512081 [GRCh38] Chr21:38884384 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.707T>C (p.Leu236Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529149]	Chr21:37490244 [GRCh38] Chr21:38862546 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2069A>G (p.Asp690Gly)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003527975]	Chr21:37512335 [GRCh38] Chr21:38884638 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2060_2062dup (p.Gly687_Ala688insGly)	duplication	DYRK1A-related intellectual disability syndrome [RCV003529274]\|not provided [RCV004775427]	Chr21:37512324..37512325 [GRCh38] Chr21:38884627..38884628 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1520-11T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003529284]	Chr21:37506088 [GRCh38] Chr21:38878391 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.756A>G (p.Leu252=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003878117]	Chr21:37490293 [GRCh38] Chr21:38862595 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1533G>A (p.Gly511=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005085132]	Chr21:37506112 [GRCh38] Chr21:38878415 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.790C>T (p.Leu264=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003831949]	Chr21:37490327 [GRCh38] Chr21:38862629 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1121A>G (p.His374Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003838872]	Chr21:37496167 [GRCh38] Chr21:38868469 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.11-12A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003838200]	Chr21:37472672 [GRCh38] Chr21:38844974 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1593G>C (p.Gly531=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003835473]	Chr21:37506172 [GRCh38] Chr21:38878475 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.187C>A (p.Gln63Lys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003852428]	Chr21:37472860 [GRCh38] Chr21:38845162 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.300+19T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003838906]	Chr21:37478319 [GRCh38] Chr21:38850621 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1684A>G (p.Thr562Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003859645]	Chr21:37511950 [GRCh38] Chr21:38884253 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1604C>A (p.Ala535Asp)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641273]	Chr21:37506183 [GRCh38] Chr21:38878486 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1212+7T>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641441]	Chr21:37496265 [GRCh38] Chr21:38868567 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1882A>G (p.Thr628Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641277]	Chr21:37512148 [GRCh38] Chr21:38884451 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1833A>G (p.Gly611=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641304]	Chr21:37512099 [GRCh38] Chr21:38884402 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.91G>A (p.Ala31Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641507]	Chr21:37472764 [GRCh38] Chr21:38845066 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.924+5G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003640594]	Chr21:37490466 [GRCh38] Chr21:38862768 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.924+5G>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641783]	Chr21:37490466 [GRCh38] Chr21:38862768 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.728C>G (p.Thr243Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641500]	Chr21:37490265 [GRCh38] Chr21:38862567 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.96A>T (p.Gly32=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641830]	Chr21:37472769 [GRCh38] Chr21:38845071 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2040C>T (p.Thr680=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641872]	Chr21:37512306 [GRCh38] Chr21:38884609 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1465G>A (p.Ala489Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003640835]	Chr21:37505535 [GRCh38] Chr21:38877838 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.820A>G (p.Ile274Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003640851]	Chr21:37490357 [GRCh38] Chr21:38862659 [GRCh37] Chr21:21q22.13	benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1908T>A (p.Ser636=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641601]	Chr21:37512174 [GRCh38] Chr21:38884477 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1592G>A (p.Gly531Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641114]	Chr21:37506171 [GRCh38] Chr21:38878474 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1464C>A (p.Pro488=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641146]	Chr21:37505534 [GRCh38] Chr21:38877837 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1936A>G (p.Met646Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003642132]	Chr21:37512202 [GRCh38] Chr21:38884505 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.638-13T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641281]	Chr21:37490162 [GRCh38] Chr21:38862464 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1416A>G (p.Lys472=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003642162]	Chr21:37505486 [GRCh38] Chr21:38877789 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.208-34A>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641529]	Chr21:37478174 [GRCh38] Chr21:38850476 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1556G>A (p.Arg519Gln)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003642138]	Chr21:37506135 [GRCh38] Chr21:38878438 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.637+12G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641815]	Chr21:37486626 [GRCh38] Chr21:38858928 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.300+15G>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641817]	Chr21:37478315 [GRCh38] Chr21:38850617 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.225C>G (p.Thr75=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003640439]	Chr21:37478225 [GRCh38] Chr21:38850527 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1735A>G (p.Thr579Ala)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003861044]	Chr21:37512001 [GRCh38] Chr21:38884304 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.638-14G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003640584]	Chr21:37490161 [GRCh38] Chr21:38862463 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1766T>C (p.Leu589Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003867225]	Chr21:37512032 [GRCh38] Chr21:38884335 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1598T>A (p.Phe533Tyr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641258]	Chr21:37506177 [GRCh38] Chr21:38878480 [GRCh37] Chr21:21q22.13	uncertain significance
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	copy number gain	not specified [RCV003986149]	Chr21:30685776..48097372 [GRCh37] Chr21:21q21.3-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1692T>C (p.Ala564=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641484]	Chr21:37511958 [GRCh38] Chr21:38884261 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.984T>G (p.Pro328=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641516]	Chr21:37493076 [GRCh38] Chr21:38865378 [GRCh37] Chr21:21q22.13	likely benign
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	copy number gain	not specified [RCV003986152]	Chr21:26929299..48097372 [GRCh37] Chr21:21q21.3-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1704C>A (p.Val568=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641775]	Chr21:37511970 [GRCh38] Chr21:38884273 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.440T>C (p.Met147Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641842]	Chr21:37480777 [GRCh38] Chr21:38853079 [GRCh37] Chr21:21q22.13	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	copy number gain	not specified [RCV003986160]	Chr21:15023401..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.196_200del (p.Pro65_Leu66insTer)	deletion	DYRK1A-related intellectual disability syndrome [RCV003983797]	Chr21:37472869..37472873 [GRCh38] Chr21:38845171..38845175 [GRCh37] Chr21:21q22.13	likely pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	copy number gain	not specified [RCV003986158]	Chr21:34092685..48097372 [GRCh37] Chr21:21q22.11-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1995C>T (p.Asn665=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003642032]	Chr21:37512261 [GRCh38] Chr21:38884564 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1234C>T (p.Arg412Cys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003642313]	Chr21:37505304 [GRCh38] Chr21:38877607 [GRCh37] Chr21:21q22.13	likely benign\|uncertain significance
NM_001347721.2(DYRK1A):c.1072del	deletion	DYRK1A-related intellectual disability syndrome [RCV003986046]	Chr21:37496117 [GRCh38] Chr21:38868419 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.924+14C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641348]	Chr21:37490475 [GRCh38] Chr21:38862777 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1842C>G (p.Ala614=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641434]	Chr21:37512108 [GRCh38] Chr21:38884411 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1412A>G (p.Lys471Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003870832]	Chr21:37505482 [GRCh38] Chr21:38877785 [GRCh37] Chr21:21q22.13	uncertain significance
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	copy number loss	not specified [RCV003986157]	Chr21:35872675..48097372 [GRCh37] Chr21:21q22.12-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1698A>G (p.Thr566=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641628]	Chr21:37511964 [GRCh38] Chr21:38884267 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.625A>T (p.Lys209Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641720]	Chr21:37486602 [GRCh38] Chr21:38858904 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.578T>C (p.Ile193Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641725]	Chr21:37486555 [GRCh38] Chr21:38858857 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1308G>T (p.Thr436=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003852998]	Chr21:37505378 [GRCh38] Chr21:38877681 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.122G>C (p.Ser41Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003819233]	Chr21:37472795 [GRCh38] Chr21:38845097 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.88A>T (p.Met30Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641887]	Chr21:37472761 [GRCh38] Chr21:38845063 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.640dup (p.His214fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV003641831]	Chr21:37490176..37490177 [GRCh38] Chr21:38862478..38862479 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1071+4A>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641896]	Chr21:37493167 [GRCh38] Chr21:38865469 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.708C>G (p.Leu236=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641929]	Chr21:37490245 [GRCh38] Chr21:38862547 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2257A>G (p.Ser753Gly)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003640634]	Chr21:37512523 [GRCh38] Chr21:38884826 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.262T>A (p.Ser88Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003640632]	Chr21:37478262 [GRCh38] Chr21:38850564 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1538G>A (p.Ser513Asn)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003640779]	Chr21:37506117 [GRCh38] Chr21:38878420 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1601C>T (p.Thr534Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003640717]	Chr21:37506180 [GRCh38] Chr21:38878483 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1664CTC[1] (p.Pro556del)	microsatellite	DYRK1A-related intellectual disability syndrome [RCV003640848]	Chr21:37511930..37511932 [GRCh38] Chr21:38884233..38884235 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.427G>A (p.Gly143Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003640735]	Chr21:37480764 [GRCh38] Chr21:38853066 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1737C>T (p.Thr579=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641167]	Chr21:37512003 [GRCh38] Chr21:38884306 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.540A>C (p.Ile180=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003863396]	Chr21:37486517 [GRCh38] Chr21:38858819 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2204A>T (p.Asp735Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003843735]	Chr21:37512470 [GRCh38] Chr21:38884773 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1770T>C (p.His590=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641293]	Chr21:37512036 [GRCh38] Chr21:38884339 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.956G>A (p.Arg319Gln)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641433]	Chr21:37493048 [GRCh38] Chr21:38865350 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.618_619dup (p.Glu207fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV003641668]	Chr21:37486594..37486595 [GRCh38] Chr21:38858896..38858897 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.436T>C (p.Trp146Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003641741]	Chr21:37480773 [GRCh38] Chr21:38853075 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.681_685del (p.Leu227fs)	deletion	not provided [RCV003887184]	Chr21:37490214..37490218 [GRCh38] Chr21:38862516..38862520 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.948_949insGG (p.Phe317fs)	insertion	DYRK1A-related intellectual disability syndrome [RCV003885338]	Chr21:37493040..37493041 [GRCh38] Chr21:38865342..38865343 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.457del (p.Asp153fs)	deletion	not provided [RCV004547095]	Chr21:37480794 [GRCh38] Chr21:38853096 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1072-2A>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003985142]	Chr21:37496116 [GRCh38] Chr21:38868418 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1190dup (p.Lys398fs)	duplication	DYRK1A-related intellectual disability syndrome [RCV004557274]	Chr21:37496233..37496234 [GRCh38] Chr21:38868535..38868536 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.371G>A (p.Arg124Gln)	single nucleotide variant	Male infertility with spermatogenesis disorder [RCV003991637]	Chr21:37480708 [GRCh38] Chr21:38853010 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.994G>T (p.Ala332Ser)	single nucleotide variant	Male infertility with spermatogenesis disorder [RCV003991638]	Chr21:37493086 [GRCh38] Chr21:38865388 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.764A>C (p.Lys255Thr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV003991149]	Chr21:37490301 [GRCh38] Chr21:38862603 [GRCh37] Chr21:21q22.13	conflicting interpretations of pathogenicity\|uncertain significance
NM_001347721.2(DYRK1A):c.2099G>T (p.Arg700Leu)	single nucleotide variant	Inborn genetic diseases [RCV004381977]	Chr21:37512365 [GRCh38] Chr21:38884668 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1838_1839delinsTTGTT (p.Gln613delinsLeuVal)	indel	not provided [RCV004592184]	Chr21:37512104..37512105 [GRCh38] Chr21:38884407..38884408 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.657del (p.Phe219fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV004566397]	Chr21:37490192 [GRCh38] Chr21:38862494 [GRCh37] Chr21:21q22.13	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	copy number gain	not provided [RCV004577449]	Chr21:15380398..48100790 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_001347721.2(DYRK1A):c.1636A>G (p.Ser546Gly)	single nucleotide variant	Inborn genetic diseases [RCV004381976]	Chr21:37506215 [GRCh38] Chr21:38878518 [GRCh37] Chr21:21q22.13	uncertain significance
NC_000021.8:g.(?_38850463)_(38850622_?)del	deletion	DYRK1A-related intellectual disability syndrome [RCV004579326]	Chr21:38850463..38850622 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.868A>G (p.Lys290Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV004594946]	Chr21:37490405 [GRCh38] Chr21:38862707 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.1553C>G (p.Ala518Gly)	single nucleotide variant	not provided [RCV004697566]	Chr21:37506132 [GRCh38] Chr21:38878435 [GRCh37] Chr21:21q22.13	uncertain significance
NC_000021.8:g.(?_38859534)_(38868543_?)del	deletion	DYRK1A-related intellectual disability syndrome [RCV004579330]	Chr21:38859534..38868543 [GRCh37] Chr21:21q22.13	pathogenic
NC_000021.8:g.(?_37133458)_(38884834_?)dup	duplication	DYRK1A-related intellectual disability syndrome [RCV004579327]	Chr21:37133458..38884834 [GRCh37] Chr21:21q22.12-22.13	uncertain significance
NC_000021.8:g.(?_38868400)_(38884834_?)dup	duplication	DYRK1A-related intellectual disability syndrome [RCV004579328]	Chr21:38868400..38884834 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.610C>T (p.His204Tyr)	single nucleotide variant	not provided [RCV004772714]	Chr21:37486587 [GRCh38] Chr21:38858889 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1677G>C (p.Trp559Cys)	single nucleotide variant	not provided [RCV004781111]	Chr21:37511943 [GRCh38] Chr21:38884246 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.808C>T (p.Pro270Ser)	single nucleotide variant	not provided [RCV004781299]	Chr21:37490345 [GRCh38] Chr21:38862647 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.502T>C (p.Tyr168His)	single nucleotide variant	not provided [RCV004764221]		uncertain significance
NM_001347721.2(DYRK1A):c.525G>A (p.Trp175Ter)	single nucleotide variant	not provided [RCV004811394]	Chr21:37486502 [GRCh38] Chr21:38858804 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1373G>T (p.Arg458Leu)	single nucleotide variant	DYRK1A-related disorder [RCV004729794]	Chr21:37505443 [GRCh38] Chr21:38877746 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1496C>A (p.Thr499Asn)	single nucleotide variant	not provided [RCV004795168]	Chr21:37505566 [GRCh38] Chr21:38877869 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.208-12G>A	single nucleotide variant	not provided [RCV004798472]	Chr21:37478196 [GRCh38] Chr21:38850498 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.957_960del (p.Ser320fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV004701223]	Chr21:37493049..37493052 [GRCh38] Chr21:38865351..38865354 [GRCh37] Chr21:21q22.13	likely pathogenic
NM_001347721.2(DYRK1A):c.194C>T (p.Pro65Leu)	single nucleotide variant	not provided [RCV004769832]	Chr21:37472867 [GRCh38] Chr21:38845169 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.391T>C (p.Tyr131His)	single nucleotide variant	not provided [RCV004774780]	Chr21:37480728 [GRCh38] Chr21:38853030 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.228C>G (p.Phe76Leu)	single nucleotide variant	not provided [RCV004771027]	Chr21:37478228 [GRCh38] Chr21:38850530 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2035A>C (p.Asn679His)	single nucleotide variant	not provided [RCV004776223]	Chr21:37512301 [GRCh38] Chr21:38884604 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.899G>T (p.Gly300Val)	single nucleotide variant	not provided [RCV005052346]	Chr21:37490436 [GRCh38] Chr21:38862738 [GRCh37] Chr21:21q22.13	uncertain significance
GRCh37/hg19 21q22.11-22.3(chr21:34586759-48097372)x3	copy number gain	not provided [RCV004819321]	Chr21:34586759..48097372 [GRCh37] Chr21:21q22.11-22.3	pathogenic
NM_001347721.2(DYRK1A):c.775C>T (p.Gln259Ter)	single nucleotide variant	Inborn genetic diseases [RCV004979423]	Chr21:37490312 [GRCh38] Chr21:38862614 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.972dup (p.Leu325fs)	duplication	Inborn genetic diseases [RCV004979424]	Chr21:37493063..37493064 [GRCh38] Chr21:38865365..38865366 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1696A>T (p.Thr566Ser)	single nucleotide variant	Inborn genetic diseases [RCV004979422]	Chr21:37511962 [GRCh38] Chr21:38884265 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1580G>A (p.Arg527Gln)	single nucleotide variant	not provided [RCV004823375]	Chr21:37506159 [GRCh38] Chr21:38878462 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1326G>C (p.Lys442Asn)	single nucleotide variant	not provided [RCV005001863]	Chr21:37505396 [GRCh38] Chr21:38877699 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.386A>G (p.Asp129Gly)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005107251]	Chr21:37480723 [GRCh38] Chr21:38853025 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1315G>A (p.Asp439Asn)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005107252]	Chr21:37505385 [GRCh38] Chr21:38877688 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1169C>T (p.Pro390Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005105789]	Chr21:37496215 [GRCh38] Chr21:38868517 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1440A>G (p.Thr480=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005196884]	Chr21:37505510 [GRCh38] Chr21:38877813 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.933G>A (p.Gln311=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005195251]	Chr21:37493025 [GRCh38] Chr21:38865327 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2106G>A (p.Glu702=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005170798]	Chr21:37512372 [GRCh38] Chr21:38884675 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.197T>C (p.Leu66Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005085893]	Chr21:37472870 [GRCh38] Chr21:38845172 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1A>T (p.Met1Leu)	single nucleotide variant	not provided [RCV005227285]	Chr21:37420375 [GRCh38] Chr21:38792677 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.760C>A (p.Arg254=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005171241]	Chr21:37490297 [GRCh38] Chr21:38862599 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2019T>C (p.Asn673=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005170796]	Chr21:37512285 [GRCh38] Chr21:38884588 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.2130A>G (p.Thr710=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005170799]	Chr21:37512396 [GRCh38] Chr21:38884699 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1194G>C (p.Lys398Asn)	single nucleotide variant	not provided [RCV005227452]	Chr21:37496240 [GRCh38] Chr21:38868542 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1664C>T (p.Ala555Val)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005087308]	Chr21:37511930 [GRCh38] Chr21:38884233 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1188A>C (p.Leu396Phe)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005170709]	Chr21:37496234 [GRCh38] Chr21:38868536 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.201T>C (p.Thr67=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005191308]	Chr21:37472874 [GRCh38] Chr21:38845176 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.207+4A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005082311]	Chr21:37472884 [GRCh38] Chr21:38845186 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1803CCA[2] (p.His608_His610del)	microsatellite	DYRK1A-related intellectual disability syndrome [RCV005076681]	Chr21:37512067..37512075 [GRCh38] Chr21:38884370..38884378 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1643A>G (p.Gln548Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005139821]	Chr21:37506222 [GRCh38] Chr21:38878525 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2097C>T (p.Pro699=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005161458]	Chr21:37512363 [GRCh38] Chr21:38884666 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1760A>G (p.Asn587Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005200450]	Chr21:37512026 [GRCh38] Chr21:38884329 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1458A>G (p.Thr486=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005157529]	Chr21:37505528 [GRCh38] Chr21:38877831 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1266A>T (p.Thr422=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005192391]	Chr21:37505336 [GRCh38] Chr21:38877639 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.405C>T (p.Asn135=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005116075]	Chr21:37480742 [GRCh38] Chr21:38853044 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1519+12T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005154493]	Chr21:37505601 [GRCh38] Chr21:38877904 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.287A>G (p.Lys96Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005113411]	Chr21:37478287 [GRCh38] Chr21:38850589 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2028G>A (p.Val676=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005176478]	Chr21:37512294 [GRCh38] Chr21:38884597 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1066A>C (p.Asn356His)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005143316]	Chr21:37493158 [GRCh38] Chr21:38865460 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1188A>G (p.Leu396=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005079172]	Chr21:37496234 [GRCh38] Chr21:38868536 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1512A>G (p.Ser504=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005133169]	Chr21:37505582 [GRCh38] Chr21:38877885 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.487C>T (p.Gln163Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005138680]	Chr21:37480824 [GRCh38] Chr21:38853126 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.2134C>A (p.Gln712Lys)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005168144]	Chr21:37512400 [GRCh38] Chr21:38884703 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.731A>G (p.Asn244Ser)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005081728]	Chr21:37490268 [GRCh38] Chr21:38862570 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.638-11_638-10del	deletion	DYRK1A-related intellectual disability syndrome [RCV005177536]	Chr21:37490162..37490163 [GRCh38] Chr21:38862464..38862465 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.10+10G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005159897]	Chr21:37420394 [GRCh38] Chr21:38792696 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1930C>A (p.His644Asn)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005117213]	Chr21:37512196 [GRCh38] Chr21:38884499 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1071+9T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005207282]	Chr21:37493172 [GRCh38] Chr21:38865474 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.771G>A (p.Ala257=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005181436]	Chr21:37490308 [GRCh38] Chr21:38862610 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1480C>G (p.Gln494Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005135621]	Chr21:37505550 [GRCh38] Chr21:38877853 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.11-4G>A	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005189896]	Chr21:37472680 [GRCh38] Chr21:38844982 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1830T>G (p.His610Gln)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005207824]	Chr21:37512096 [GRCh38] Chr21:38884399 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.640C>T (p.His214Tyr)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005162940]	Chr21:37490177 [GRCh38] Chr21:38862479 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1932_1938del (p.His644fs)	deletion	DYRK1A-related intellectual disability syndrome [RCV005120602]	Chr21:37512198..37512204 [GRCh38] Chr21:38884501..38884507 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.138A>G (p.Pro46=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005180185]	Chr21:37472811 [GRCh38] Chr21:38845113 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1751C>T (p.Pro584Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005163989]	Chr21:37512017 [GRCh38] Chr21:38884320 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.309T>C (p.Tyr103=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005156054]	Chr21:37480646 [GRCh38] Chr21:38852948 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.490-3T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005193292]	Chr21:37486464 [GRCh38] Chr21:38858766 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1645-10G>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005165898]	Chr21:37511901 [GRCh38] Chr21:38884204 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.490-10_490-8del	microsatellite	DYRK1A-related intellectual disability syndrome [RCV005128818]	Chr21:37486454..37486456 [GRCh38] Chr21:38858756..38858758 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1866G>A (p.Arg622=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005161613]	Chr21:37512132 [GRCh38] Chr21:38884435 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.638-8T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005138370]	Chr21:37490167 [GRCh38] Chr21:38862469 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.122G>A (p.Ser41Asn)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005082993]	Chr21:37472795 [GRCh38] Chr21:38845097 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1718A>C (p.His573Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005197508]	Chr21:37511984 [GRCh38] Chr21:38884287 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.2262G>C (p.Ser754=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005131217]	Chr21:37512528 [GRCh38] Chr21:38884831 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1867G>A (p.Val623Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005198010]	Chr21:37512133 [GRCh38] Chr21:38884436 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.638-9del	deletion	DYRK1A-related intellectual disability syndrome [RCV005071487]	Chr21:37490166 [GRCh38] Chr21:38862468 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.607A>G (p.Lys203Glu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005204410]	Chr21:37486584 [GRCh38] Chr21:38858886 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.637+15_637+16delinsTG	indel	DYRK1A-related intellectual disability syndrome [RCV005116035]	Chr21:37486629..37486630 [GRCh38] Chr21:38858931..38858932 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.924+3A>G	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005150913]	Chr21:37490464 [GRCh38] Chr21:38862766 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.207+8C>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005153067]	Chr21:37472888 [GRCh38] Chr21:38845190 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1559C>T (p.Ser520Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005152061]	Chr21:37506138 [GRCh38] Chr21:38878441 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.489+18G>T	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005203725]	Chr21:37480844 [GRCh38] Chr21:38853146 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1830T>A (p.His610Gln)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005112910]	Chr21:37512096 [GRCh38] Chr21:38884399 [GRCh37] Chr21:21q22.13	benign
NM_001347721.2(DYRK1A):c.1212+5A>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005126608]	Chr21:37496263 [GRCh38] Chr21:38868565 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.467T>G (p.Ile156Arg)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005128921]	Chr21:37480804 [GRCh38] Chr21:38853106 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.301-6T>C	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005153477]	Chr21:37480632 [GRCh38] Chr21:38852934 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.615C>T (p.Asp205=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005205596]	Chr21:37486592 [GRCh38] Chr21:38858894 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.208-8dup	duplication	DYRK1A-related intellectual disability syndrome [RCV005154590]	Chr21:37478199..37478200 [GRCh38] Chr21:38850501..38850502 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.1843T>C (p.Leu615=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005150181]	Chr21:37512109 [GRCh38] Chr21:38884412 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.1003A>T (p.Met335Leu)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005154591]	Chr21:37493095 [GRCh38] Chr21:38865397 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1290T>C (p.Ala430=)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005108587]	Chr21:37505360 [GRCh38] Chr21:38877663 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.134A>C (p.Gln45Pro)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV005184431]	Chr21:37472807 [GRCh38] Chr21:38845109 [GRCh37] Chr21:21q22.13	uncertain significance
NM_001347721.2(DYRK1A):c.1943_1960delinsTC (p.Ser648fs)	indel	DYRK1A-related intellectual disability syndrome [RCV003223517]	Chr21:37512209..37512226 [GRCh38] Chr21:38884512..38884529 [GRCh37] Chr21:21q22.13	pathogenic
NM_001347721.2(DYRK1A):c.2083G>A (p.Val695Ile)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001401910]\|Intellectual disability [RCV001252224]\|not provided [RCV001569610]	Chr21:37512349 [GRCh38] Chr21:38884652 [GRCh37] Chr21:21q22.13	likely benign
NM_001347721.2(DYRK1A):c.205C>T (p.Gln69Ter)	single nucleotide variant	DYRK1A-related intellectual disability syndrome [RCV001252225]	Chr21:37472878 [GRCh38] Chr21:38845180 [GRCh37] Chr21:21q22.13	pathogenic

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR199B	hsa-miR-199b-5p	Mirecords	external_info	NA	NA	21102440

Predicted Target Of

	Summary Value
Count of predictions:	4147
Count of miRNA genes:	1239
Interacting mature miRNAs:	1596
Transcripts:	ENST00000321219, ENST00000338785, ENST00000339659, ENST00000398956, ENST00000398960, ENST00000426672, ENST00000451934, ENST00000455097, ENST00000455387, ENST00000462274, ENST00000498351, ENST00000608928
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597030550	GWAS1126624_H	body mass index QTL GWAS1126624 (human)		2e-09	body mass index	body mass index (BMI) (CMO:0000105)	21	37513203	37513204	Human
597587482	GWAS1644342_H	eosinophil count QTL GWAS1644342 (human)		4e-16	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	21	37422286	37422287	Human
597083292	GWAS1179366_H	neutrophil count QTL GWAS1179366 (human)		1e-14	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	21	37416344	37416345	Human
597596307	GWAS1653167_H	eosinophil count QTL GWAS1653167 (human)		8e-20	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	21	37422286	37422287	Human
597600272	GWAS1657132_H	basophil measurement QTL GWAS1657132 (human)		9e-22	basophil measurement		21	37403778	37403779	Human
597086086	GWAS1182160_H	body mass index QTL GWAS1182160 (human)		8e-09	body mass index	body mass index (BMI) (CMO:0000105)	21	37513203	37513204	Human
597053575	GWAS1149649_H	eosinophil count QTL GWAS1149649 (human)		1e-24	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	21	37409446	37409447	Human
597057412	GWAS1153486_H	basophil percentage of leukocytes QTL GWAS1153486 (human)		2e-11	basophil quantity (VT:0002607)	blood basophil count to total leukocyte count ratio (CMO:0000368)	21	37436126	37436127	Human
597248653	GWAS1344727_H	neuroticism measurement QTL GWAS1344727 (human)		4e-08	neuroticism measurement		21	37472458	37472459	Human
597600264	GWAS1657124_H	basophil measurement QTL GWAS1657124 (human)		1e-33	basophil measurement		21	37379761	37379762	Human
597596806	GWAS1653666_H	eosinophil count QTL GWAS1653666 (human)		5e-21	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	21	37422286	37422287	Human
597608452	GWAS1665312_H	basophil measurement QTL GWAS1665312 (human)		2e-35	basophil measurement		21	37431390	37431391	Human
597191299	GWAS1287373_H	Parkinson disease QTL GWAS1287373 (human)		0.0000004	Parkinson disease		21	37480059	37480060	Human
597247877	GWAS1343951_H	neuroticism measurement QTL GWAS1343951 (human)		2e-08	neuroticism measurement		21	37472458	37472459	Human
597346180	GWAS1442254_H	basophil measurement QTL GWAS1442254 (human)		5e-11	basophil measurement		21	37432008	37432009	Human
597319742	GWAS1415816_H	smoking initiation QTL GWAS1415816 (human)		1e-15	smoking initiation		21	37386049	37386050	Human
597169724	GWAS1265798_H	serum alanine aminotransferase measurement QTL GWAS1265798 (human)		3e-08	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	21	37386049	37386050	Human
407110369	GWAS759345_H	eosinophil count QTL GWAS759345 (human)		3e-19	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	21	37397354	37397355	Human
596960956	GWAS1080475_H	glomerular filtration rate QTL GWAS1080475 (human)		3e-09	glomerular filtration rate		21	37517450	37517451	Human
597323824	GWAS1419898_H	rectum cancer, colonic neoplasm QTL GWAS1419898 (human)		0.000002	rectum cancer, colonic neoplasm		21	37370120	37370121	Human
597202610	GWAS1298684_H	alpha fetoprotein measurement QTL GWAS1298684 (human)		2e-13	blood alpha-fetoprotein amount (VT:0010776)		21	37482227	37482228	Human
597045181	GWAS1141255_H	mean corpuscular hemoglobin QTL GWAS1141255 (human)		1e-09	mean corpuscular hemoglobin	mean corpuscular hemoglobin (CMO:0000290)	21	37368522	37368523	Human
597287477	GWAS1383551_H	eosinophil count QTL GWAS1383551 (human)		1e-14	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	21	37409446	37409447	Human
597057976	GWAS1154050_H	basophil count QTL GWAS1154050 (human)		3e-19	basophil quantity (VT:0002607)	blood basophil count (CMO:0000034)	21	37436126	37436127	Human
597242678	GWAS1338752_H	clinical treatment QTL GWAS1338752 (human)		1e-09	clinical treatment		21	37402930	37402931	Human
407019890	GWAS668866_H	HIV-1 infection QTL GWAS668866 (human)		0.000005	response to viral infection trait (VT:0010439)		21	37368522	37368523	Human
597051302	GWAS1147376_H	adolescent idiopathic scoliosis QTL GWAS1147376 (human)		2e-17	adolescent idiopathic scoliosis		21	37446358	37446359	Human
597286440	GWAS1382514_H	serum gamma-glutamyl transferase measurement QTL GWAS1382514 (human)		9e-10	serum gamma-glutamyl transferase measurement	serum gamma-glutamyltransferase activity level (CMO:0002241)	21	37473019	37473020	Human
597057060	GWAS1153134_H	eosinophil count QTL GWAS1153134 (human)		7e-26	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	21	37409446	37409447	Human
407033712	GWAS682688_H	unipolar depression QTL GWAS682688 (human)		4e-08	unipolar depression		21	37445397	37445398	Human
597595049	GWAS1651909_H	eosinophil count QTL GWAS1651909 (human)		4e-12	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	21	37422286	37422287	Human
407005690	GWAS654666_H	mean corpuscular hemoglobin QTL GWAS654666 (human)		4e-10	mean corpuscular hemoglobin	mean corpuscular hemoglobin (CMO:0000290)	21	37368522	37368523	Human
597609766	GWAS1666626_H	basophil measurement QTL GWAS1666626 (human)		2e-46	basophil measurement		21	37379761	37379762	Human
597600292	GWAS1657152_H	basophil measurement QTL GWAS1657152 (human)		6e-13	basophil measurement		21	37403778	37403779	Human
597034797	GWAS1130871_H	Parkinson disease QTL GWAS1130871 (human)		5e-08	Parkinson disease		21	37398228	37398229	Human
597329441	GWAS1425515_H	body mass index QTL GWAS1425515 (human)		4e-08	body mass index	body mass index (BMI) (CMO:0000105)	21	37513203	37513204	Human
597135702	GWAS1231776_H	alpha fetoprotein measurement QTL GWAS1231776 (human)		2e-15	blood alpha-fetoprotein amount (VT:0010776)		21	37521300	37521301	Human
597101395	GWAS1197469_H	neutrophil count QTL GWAS1197469 (human)		4e-12	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	21	37424467	37424468	Human
597083088	GWAS1179162_H	neutrophil count QTL GWAS1179162 (human)		3e-13	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	21	37416344	37416345	Human
406939142	GWAS588118_H	eosinophil percentage of leukocytes QTL GWAS588118 (human)		4e-15	eosinophil quantity (VT:0002602)	blood eosinophil count to total leukocyte count ratio (CMO:0000369)	21	37409446	37409447	Human
597090142	GWAS1186216_H	mean reticulocyte volume QTL GWAS1186216 (human)		1e-09	reticulocyte morphology trait (VT:0002424)	mean corpuscular volume (CMO:0000038)	21	37451269	37451270	Human
597185489	GWAS1281563_H	major depressive disorder QTL GWAS1281563 (human)		4e-08	major depressive disorder		21	37445397	37445398	Human
2303081	MAMTS49_H	Mammary tumor susceptibility QTL 49 (human)	1.72		Mammary tumor susceptibility		21	17950448	43950448	Human
597599059	GWAS1655919_H	basophil measurement QTL GWAS1655919 (human)		5e-18	basophil measurement		21	37392737	37392738	Human
596959577	GWAS1079096_H	glomerular filtration rate QTL GWAS1079096 (human)		5e-09	glomerular filtration rate		21	37517450	37517451	Human
597593808	GWAS1650668_H	eosinophil count QTL GWAS1650668 (human)		2e-14	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	21	37422286	37422287	Human
596973531	GWAS1093050_H	major depressive disorder QTL GWAS1093050 (human)		4e-08	major depressive disorder		21	37445397	37445398	Human
597037785	GWAS1133859_H	body mass index QTL GWAS1133859 (human)		9e-09	body mass index	body mass index (BMI) (CMO:0000105)	21	37513203	37513204	Human
597600332	GWAS1657192_H	basophil measurement QTL GWAS1657192 (human)		3e-26	basophil measurement		21	37431390	37431391	Human
597147589	GWAS1243663_H	body mass index QTL GWAS1243663 (human)		4e-09	body mass index	body mass index (BMI) (CMO:0000105)	21	37480426	37480427	Human
597586509	GWAS1643369_H	eosinophil count QTL GWAS1643369 (human)		3e-16	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	21	37422286	37422287	Human
597301828	GWAS1397902_H	neutrophil count QTL GWAS1397902 (human)		6e-10	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	21	37424426	37424427	Human
597325893	GWAS1421967_H	Parkinson disease QTL GWAS1421967 (human)		6e-10	Parkinson disease		21	37480059	37480060	Human
597599487	GWAS1656347_H	basophil measurement QTL GWAS1656347 (human)		7e-13	basophil measurement		21	37392737	37392738	Human
407026720	GWAS675696_H	serum IgG glycosylation measurement QTL GWAS675696 (human)		0.000005	serum IgG glycosylation measurement		21	37445510	37445511	Human
597249150	GWAS1345224_H	neuroticism measurement QTL GWAS1345224 (human)		5e-08	neuroticism measurement		21	37472458	37472459	Human
597143931	GWAS1240005_H	serum gamma-glutamyl transferase measurement QTL GWAS1240005 (human)		5e-11	serum gamma-glutamyl transferase measurement	serum gamma-glutamyltransferase activity level (CMO:0002241)	21	37513139	37513140	Human
596962156	GWAS1081675_H	metabolic syndrome QTL GWAS1081675 (human)		3e-12	metabolic syndrome		21	37513203	37513204	Human
597054700	GWAS1150774_H	eosinophil count QTL GWAS1150774 (human)		2e-23	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	21	37367978	37367979	Human
597050987	GWAS1147061_H	Parkinson disease QTL GWAS1147061 (human)		3e-11	Parkinson disease		21	37480059	37480060	Human

D21S270

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,830,521 - 38,830,725	UniSTS	GRCh37
Build 36	21	37,752,391 - 37,752,595	RGD	NCBI36
Celera	21	24,028,910 - 24,029,114	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,306,217 - 24,306,441	UniSTS
Marshfield Genetic Map	21	38.08	UniSTS
Marshfield Genetic Map	21	38.08	RGD
Genethon Genetic Map	21	41.3	UniSTS
TNG Radiation Hybrid Map	21	14023.0	UniSTS
deCODE Assembly Map	21	45.14	UniSTS
Stanford-G3 RH Map	21	1112.0	UniSTS
GeneMap99-GB4 RH Map	21	192.99	UniSTS
Whitehead-RH Map	21	186.4	UniSTS
Whitehead-YAC Contig Map	21		UniSTS
NCBI RH Map	21	285.7	UniSTS
GeneMap99-G3 RH Map	21	1112.0	UniSTS

D21S1972

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,886,976 - 38,887,200	UniSTS	GRCh37
Build 36	21	37,808,846 - 37,809,070	RGD	NCBI36
Celera	21	24,085,365 - 24,085,589	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,363,079 - 24,363,303	UniSTS
Whitehead-YAC Contig Map	21		UniSTS

SHGC-50010

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,846,744 - 38,846,835	UniSTS	GRCh37
Build 36	21	37,768,614 - 37,768,705	RGD	NCBI36
Celera	21	24,045,133 - 24,045,224	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,322,471 - 24,322,562	UniSTS
TNG Radiation Hybrid Map	21	14045.0	UniSTS

RH91183

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,886,985 - 38,887,153	UniSTS	GRCh37
Build 36	21	37,808,855 - 37,809,023	RGD	NCBI36
Celera	21	24,085,374 - 24,085,542	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,363,088 - 24,363,256	UniSTS
GeneMap99-GB4 RH Map	21	183.42	UniSTS

RH120501

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,803,233 - 38,803,575	UniSTS	GRCh37
Build 36	21	37,725,103 - 37,725,445	RGD	NCBI36
Celera	21	24,001,621 - 24,001,963	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,278,923 - 24,279,265	UniSTS
TNG Radiation Hybrid Map	21	13973.0	UniSTS

D21S394

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,738,304 - 38,738,422	UniSTS	GRCh37
Build 36	21	37,660,174 - 37,660,292	RGD	NCBI36
Celera	21	23,936,692 - 23,936,810	RGD
Cytogenetic Map	21	q22.13	UniSTS

SHGC-105235

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,746,185 - 38,746,523	UniSTS	GRCh37
Build 36	21	37,668,055 - 37,668,393	RGD	NCBI36
Celera	21	23,944,572 - 23,944,910	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,221,872 - 24,222,210	UniSTS
TNG Radiation Hybrid Map	21	13930.0	UniSTS

SHGC-170065

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,887,774 - 38,888,048	UniSTS	GRCh37
Build 36	21	37,809,644 - 37,809,918	RGD	NCBI36
Celera	21	24,086,163 - 24,086,437	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,363,877 - 24,364,151	UniSTS
TNG Radiation Hybrid Map	21	14077.0	UniSTS

SHGC-87629

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,831,751 - 38,831,997	UniSTS	GRCh37
Build 36	21	37,753,621 - 37,753,867	RGD	NCBI36
Celera	21	24,030,140 - 24,030,386	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,307,467 - 24,307,713	UniSTS
TNG Radiation Hybrid Map	21	14048.0	UniSTS
GeneMap99-GB4 RH Map	21	195.83	UniSTS
NCBI RH Map	21	294.3	UniSTS

STS-G06294

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,887,146 - 38,887,197	UniSTS	GRCh37
Build 36	21	37,809,016 - 37,809,067	RGD	NCBI36
Celera	21	24,085,535 - 24,085,586	RGD
Celera	1	208,090,137 - 208,091,361	UniSTS
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,363,249 - 24,363,300	UniSTS
GeneMap99-GB4 RH Map	21	189.32	UniSTS
NCBI RH Map	21	292.3	UniSTS

SHGC-51949

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,845,991 - 38,846,181	UniSTS	GRCh37
Build 36	21	37,767,861 - 37,768,051	RGD	NCBI36
Celera	21	24,044,380 - 24,044,570	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,321,717 - 24,321,908	UniSTS
TNG Radiation Hybrid Map	21	14008.0	UniSTS

SHGC-52085

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,886,997 - 38,887,153	UniSTS	GRCh37
Build 36	21	37,808,867 - 37,809,023	RGD	NCBI36
Celera	21	24,085,386 - 24,085,542	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,363,100 - 24,363,256	UniSTS
TNG Radiation Hybrid Map	21	14059.0	UniSTS

SHGC-51948

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,805,934 - 38,806,097	UniSTS	GRCh37
Build 36	21	37,727,804 - 37,727,967	RGD	NCBI36
Celera	21	24,004,323 - 24,004,486	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,281,624 - 24,281,787	UniSTS
TNG Radiation Hybrid Map	21	13995.0	UniSTS

SHGC-87621

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,771,323 - 38,771,422	UniSTS	GRCh37
Build 36	21	37,693,193 - 37,693,292	RGD	NCBI36
Celera	21	23,969,711 - 23,969,810	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,247,019 - 24,247,118	UniSTS
TNG Radiation Hybrid Map	21	13946.0	UniSTS
GeneMap99-GB4 RH Map	21	186.67	UniSTS

SHGC-63617

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,860,197 - 38,860,300	UniSTS	GRCh37
Build 36	21	37,782,067 - 37,782,170	RGD	NCBI36
Celera	21	24,058,586 - 24,058,689	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,335,925 - 24,336,028	UniSTS
TNG Radiation Hybrid Map	21	14051.0	UniSTS

SHGC-87626

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,753,363 - 38,753,503	UniSTS	GRCh37
Build 36	21	37,675,233 - 37,675,373	RGD	NCBI36
Celera	21	23,951,750 - 23,951,890	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,229,053 - 24,229,193	UniSTS
GeneMap99-GB4 RH Map	21	187.33	UniSTS
Whitehead-RH Map	21	181.2	UniSTS

G34602

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,765,821 - 38,766,011	UniSTS	GRCh37
Build 36	21	37,687,691 - 37,687,881	RGD	NCBI36
Celera	21	23,964,209 - 23,964,399	RGD
Cytogenetic Map	21	q22.13	UniSTS
HuRef	21	24,241,518 - 24,241,708	UniSTS

DYRK1A__4795

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,886,719 - 38,887,497	UniSTS	GRCh37
Build 36	21	37,808,589 - 37,809,367	RGD	NCBI36
Celera	21	24,085,108 - 24,085,886	RGD
HuRef	21	24,362,822 - 24,363,600	UniSTS

DYRK1A

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,886,655 - 38,887,093	UniSTS	GRCh37
Celera	21	24,085,044 - 24,085,482	UniSTS
HuRef	21	24,362,758 - 24,363,196	UniSTS

D11Wox11

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	38,884,312 - 38,884,489	UniSTS	GRCh37
Celera	21	24,082,701 - 24,082,878	UniSTS
HuRef	21	24,360,414 - 24,360,591	UniSTS

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	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4973	1726	2351	5	624	1951	465	2269	7305	6471	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NG_009366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001347721	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001347722	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001347723	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001396	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_101395	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_130436	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_130438	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006723976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006723978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011529483	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017028284	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017028286	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB015282	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB015283	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB015284	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF108830	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ001870	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ001871	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK301752	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP000012	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP001413	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP001421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP001428	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP001437	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP001728	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP001729	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC030515	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC045802	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC065184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471079	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D85759	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D86550	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF584751	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF584752	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF457264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF457265	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF510556	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF511415	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U52373	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U58496	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z25423	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000338785 ⟹ ENSP00000342690

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,367,557 - 37,515,377 (+)	Ensembl

Ensembl Acc Id:

ENST00000339659 ⟹ ENSP00000340373

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,418,905 - 37,515,376 (+)	Ensembl

Ensembl Acc Id:

ENST00000398956 ⟹ ENSP00000381929

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,420,375 - 37,511,954 (+)	Ensembl

Ensembl Acc Id:

ENST00000398960 ⟹ ENSP00000381932

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,375,094 - 37,512,921 (+)	Ensembl

Ensembl Acc Id:

ENST00000426672 ⟹ ENSP00000412269

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,368,059 - 37,486,493 (+)	Ensembl

Ensembl Acc Id:

ENST00000455097 ⟹ ENSP00000398483

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,420,299 - 37,472,829 (+)	Ensembl

Ensembl Acc Id:

ENST00000462274

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,472,780 - 37,481,649 (+)	Ensembl

Ensembl Acc Id:

ENST00000642309 ⟹ ENSP00000495596

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,420,312 - 37,505,357 (+)	Ensembl

Ensembl Acc Id:

ENST00000643355

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,478,285 - 37,488,127 (+)	Ensembl

Ensembl Acc Id:

ENST00000643551 ⟹ ENSP00000494698

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,368,016 - 37,480,669 (+)	Ensembl

Ensembl Acc Id:

ENST00000643624 ⟹ ENSP00000493627

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,367,581 - 37,512,947 (+)	Ensembl

Ensembl Acc Id:

ENST00000643808

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,486,148 - 37,505,357 (+)	Ensembl

Ensembl Acc Id:

ENST00000643854 ⟹ ENSP00000493653

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,420,299 - 37,505,357 (+)	Ensembl

Ensembl Acc Id:

ENST00000644367

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,486,640 - 37,505,475 (+)	Ensembl

Ensembl Acc Id:

ENST00000644942 ⟹ ENSP00000494544

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,367,101 - 37,512,772 (+)	Ensembl

Ensembl Acc Id:

ENST00000645424 ⟹ ENSP00000494897

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,420,299 - 37,506,302 (+)	Ensembl

Ensembl Acc Id:

ENST00000645774 ⟹ ENSP00000494536

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,420,328 - 37,505,554 (+)	Ensembl

Ensembl Acc Id:

ENST00000646224

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,488,785 - 37,512,559 (+)	Ensembl

Ensembl Acc Id:

ENST00000646351

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,501,326 - 37,512,064 (+)	Ensembl

Ensembl Acc Id:

ENST00000646523 ⟹ ENSP00000495632

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,365,573 - 37,512,054 (+)	Ensembl

Ensembl Acc Id:

ENST00000646548 ⟹ ENSP00000495908

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,418,905 - 37,526,358 (+)	Ensembl

Ensembl Acc Id:

ENST00000647188 ⟹ ENSP00000494572

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,366,773 - 37,526,358 (+)	Ensembl

Ensembl Acc Id:

ENST00000647425 ⟹ ENSP00000496748

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,365,790 - 37,512,531 (+)	Ensembl

Ensembl Acc Id:

ENST00000647504 ⟹ ENSP00000495571

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	37,366,934 - 37,515,172 (+)	Ensembl

RefSeq Acc Id:

NM_001347721 ⟹ NP_001334650

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	37,366,773 - 37,526,358 (+)	NCBI
T2T-CHM13v2.0	21	35,749,088 - 35,908,739 (+)	NCBI

Sequence:

show sequence

GACCGGGTCGGTCCGTCGCCATTTTGTTGGTTGGTTTTTTTTTAAACCCTTTCGCTTCCCGCCCGAATAATAATAAAAAGCCCCATTGGAGTGAGGCGGGGGTGGCGGCGGCAACCGCGGCGGGGGTA
TCCGGGGAGACTGCTGCTGTCGCTGCTGCTGATCGCGGCCCAGGTCGGCCTCAGAGAGCGGACACCCCGAGCGGGGGGTGCGGGCGCCGCCGCCGCCGCTTCTGCTGCTGCTGTTCCTGCTGCTGCTG
TTGGTGCCGCTGCCGCCGCCGGCGAGCAGGCGGGACCGGTGTGAGTGCGAGTGTGTGTGCGAGGGAGCGTGTGCGAGGGCGATTGTGCGCGCGAGTGTGCGGGTGTGTGCGAGTGTCTGTCTGTCTGT
GCGGGGACTCGGGGGCGGGCGGTTCGGGCTCTCCTGGCGGAGGAGCCGCCGCCGCCGCCCGGGCCCCGGCGCTTCTCGCTGCGCAGGTTCGGAGCGCGCGCCATTTTGTGAGATTTACAAAATCCTCC
TCGGGAAGAAGCCGCCGGCAGCAGCCGCCGCTCGGCGCCCGGCCTCGCCGACGCCGCCCTCTGCGCCGGGCCGGCCGTGCGGCCCCGCCGCCTGGAATCGGGGCCCGGGGACTGCGGTATTTGCCGGG
GAGGGGGCTGTCGCCTCCCCGGCCCCGGGCGCCGCTGGAACCGCGAGCCGAGGAGAGACTGAGCAGGCTGCGGCGCGGCCAGGAGCCGGAGCGCCGGGGGCGGAGAGAGGCTGCCGGGGCGGCGCTGG
CTGCGGAGGCCGCGGCGGGAGCGCGGCGCGGGAGCCCGAGGCTGAGACTCACCGGAGGAAGCGGCGCGAGCGCCCCGCCATCGTCCCGTGTTATAGTTTTGCCGCTGGACTCTTCCCTCCCTTCCCCC
ACCCCATCAGGATGATATGAGACTTGAAAGAAGACGATGCATACAGGAGGAGAGACTTCAGCATGCAAACCTTCATCTGTTCGGCTTGCACCGTCATTTTCATTCCATGCTGCTGGCCTTCAGATGGC
TGGACAGATGCCCCATTCACATCAGTACAGTGACCGTCGCCAGCCAAACATAAGTGACCAACAGGTTTCTGCCTTATCATATTCTGACCAGATTCAGCAACCTCTAACTAACCAGAGGCGGATGCCCC
AAACCTTCCGTGACCCAGCAACTGCTCCCCTGAGAAAACTTTCTGTTGACTTGATCAAAACATACAAGCATATTAATGAGGTTTACTATGCAAAAAAGAAGCGAAGACACCAACAGGGCCAGGGAGAC
GATTCTAGTCATAAGAAGGAACGGAAGGTTTACAATGATGGTTATGATGATGATAACTATGATTATATTGTAAAAAACGGAGAAAAGTGGATGGATCGTTACGAAATTGACTCCTTGATAGGCAAAGG
TTCCTTTGGACAGGTTGTAAAGGCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTAAAATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGA
ACAAACATGACACTGAAATGAAATACTACATAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAAT
TTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTG
TAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGATATACCAGTATATTCAGAGTCGCTTTTATCGGTCTCCAGAGGTGCTACTGGGAATGCCTTATG
ACCTTGCCATTGATATGTGGTCCCTCGGGTGTATTTTGGTTGAAATGCACACTGGAGAACCTCTGTTCAGTGGTGCCAATGAGGTAGATCAGATGAATAAAATAGTGGAAGTTCTGGGTATTCCACCT
GCTCATATTCTTGACCAAGCACCAAAAGCAAGAAAGTTCTTTGAGAAGTTGCCAGATGGCACTTGGAACTTAAAGAAGACCAAAGATGGAAAACGGGAGTACAAACCACCAGGAACCCGTAAACTTCA
TAACATTCTTGGAGTGGAAACAGGAGGACCTGGTGGGCGACGTGCTGGGGAGTCAGGTCATACGGTCGCTGACTACTTGAAGTTCAAAGACCTCATTTTAAGGATGCTTGATTATGACCCCAAAACTC
GAATTCAACCTTATTATGCTCTGCAGCACAGTTTCTTCAAGAAAACAGCTGATGAAGGTACAAATACAAGTAATAGTGTATCTACAAGCCCCGCCATGGAGCAGTCTCAGTCTTCGGGCACCACCTCC
AGTACATCGTCAAGCTCAGGTGGCTCATCGGGGACAAGCAACAGTGGGAGAGCCCGGTCGGATCCGACGCACCAGCATCGGCACAGTGGTGGGCACTTCACAGCTGCCGTGCAGGCCATGGACTGCGA
GACACACAGTCCCCAGGTGCGTCAGCAATTTCCTGCTCCTCTTGGTTGGTCAGGCACTGAAGCTCCTACACAGGTCACTGTTGAAACTCATCCTGTTCAAGAAACAACCTTTCATGTAGCCCCTCAAC
AGAATGCATTGCATCATCACCATGGTAACAGTTCCCATCACCATCACCACCACCACCACCATCACCACCACCATGGACAACAAGCCTTGGGTAACCGGACCAGGCCAAGGGTCTACAATTCTCCAACG
AATAGCTCCTCTACCCAAGATTCTATGGAGGTTGGCCACAGTCACCACTCCATGACATCCCTGTCTTCCTCAACGACTTCTTCCTCGACATCTTCCTCCTCTACTGGTAACCAAGGCAATCAGGCCTA
CCAGAATCGCCCAGTGGCTGCTAATACCTTGGACTTTGGACAGAATGGAGCTATGGACGTTAATTTGACCGTCTACTCCAATCCCCGCCAAGAGACTGGCATAGCTGGACATCCAACATACCAATTTT
CTGCTAATACAGGTCCTGCACATTACATGACTGAAGGACATCTGACAATGAGGCAAGGGGCTGATAGAGAAGAGTCCCCCATGACAGGAGTTTGTGTGCAACAGAGTCCTGTAGCTAGCTCGTGACTA
CATTGAAACTTGAGTTTGTTTCTTGTGTGTTTTTATAGAAGTGGTGTTTTTTTTCCAAAAACAAAGTGCAAAGCTGCTTGAATCAGGAGGAGATTAACACACTGAACCGCTACAAGAGGGCAAAGCTG
ATTTTTTTTTTAACTTGAAAAGATTGCAAAGGGACATTGAAGTGTTTAAAAGAGCCATGTCCAAACCCATCTTCATGGATAGCTCAGAGGTATCCTCTTTTTGCTCCCCCATTTTAACTTGCCACATC
CCAGTCACAGTGGGGTTTTTTTGTCTTTCTATTCAGCAAAAGTTAATATTCAGATGTTGGTCTTGGTCATTTGCCAACTAATTTTAAAGTAAAAGGCACTGCACATAATTTGCATAAAGGGCCCCATG
AGGGTGTTTTTTTTTTTTCTTTTTGTCCCCCCCATCCCCCTTTTTTTTTGTTTTGTTCTGTTTTGTTTTGGGTGGGAGGGTGGGAAATTTGGGTTTTTAAGTCCTCTAAACACACTTGGGCACGGAAA
TGCAGTACTGTAAGGAAGAGGGACCTCCAGCTTCCACAAACACCATCTTCAGCTGTATGAAAGGGACGGTTGTGGTGAAGTTTGTCAGGCACAGTAAGCATGCTGAGTGGCGGGGATCAGAACTCTCC
TATCTGAACCTACTGAGGAGCAAAGCAGCAATTACATGGGATCCTGTGGCTCTCCCGTTGCAGAGGCCACAGGAAGATAGGATGGAACGTGACTGGTCTCCTAACCAAGGTGCACTGAGAAGCAATCA
ACGGGTCGGTCGTGGCCAGTCCTGGGGAGGTCTGAGTGGTGGTCTTTGGGATAACCTTTGGCCTTATGGATTTGGACTCGAAATTAGAAGAGCCTACCATTTCAGATGCAATCACTTTTGGACATGCT
TTTGCAGACAGTCCTTAATGCTGAAAACACAGAGAATGGGTAATTCAAGAGGCCTTTCTTTTAAAATAGACTTTTGTGACCCACTAATTGTAAGGTATTGCAAGGTCACTTTGCGTGTGTCATAAAGT
TGACTTCCTTATTGGTTGAAGGTCACAGAAGTAGTGGTTTGCTTTGATGGAAATAGCTACAGCTGTGTCCCTTCCTGCTTTTTACTTTTTCTTTTGCTTTTTCTCGGCACGTGGTATCTCCACCATTT
CTTCTGCACAAAGATGTCTTCTGTTCATCCTGAACATTTTTAAAAAATGCAGAATTTTATGTGACTGCTTTTTTGCCTCACAATTATGCTGTGAATTTTACAAAAATTTATTTTCTTTTTTGATAATT
TATTGTACCAAAGCTGTTTTTATAGCACATAGATGTCTGTAACCAATAATGTAGCAGTTCTGCACTTTGACACAAGGTGTAACTAGACCATTTTTAAATGTCAGTTGAAAATTATGGCTGTACTATTG
CTTAAACAAAACTGGAACTGTTGTTGAATCCATAGCCAATACATTTACAGCAATCTGTGTACTGAACATAGTAGATTGACATCTAATTCAAGATTACAACATCTGTTACATTCTAAGTGTGTTCAGGC
TTCTGAAGGTAAAGGGACACTGGATCCAGAAGCTATGGAACCAGCAGTTGATTCTTGTATTCCTGATTAACCTACTTGTAAACTTGAAAGCAAGACCTTGATTGCACCAACAGGTCCAGAGTATGAGT
GCAAGCAAAGCAGAACTCTCATGCGTGACCTGAGCAGACAGGCTGGTATTTAACAGGTGCCTCGTGTTGAGATTACGCTGCCTTAATGTAACACAGTCTGGCAGTTGCTAAATTTGTGTTCCCATTTT
AAATTGACCAATTTTGGGGTGTGACACTTTTGAGCGGTTGAATTGGGAGAATGAAGATAAGTAATTTACCTGTCCAGGATCAAAAGAAGCCTAGAAAAGAAGCAGTAATCTACCTCTGCCGATAACCT
GTTTAAGATGACTCAGCAGAACACCGCGTTTCATTCTATTGGTCAATTCCATGTGGCTGACTAGGTCAATTTTTTTTCTGAACAAAAGCAGGTTTTTATATGTAAACAGTGAGAAAAGAAAGGCTAAA
CACTATGTAAATGTGAATGGAAACTTGGAAATACTCGTTTTTATAAACTACAAAAACTTTTTGTTGTTTATCAGGAAATCCATATTTATTTTGTAATTAACTGTCAAGCCTGTGGATGATTTTTTTGA
ACTTGGTAGTTCATAAAGGTTTACAGTGAATAAAAGGATATCATCTTGAGTATAGCAATATCAAAAGGAATTCAGTAGTTACTGCTGTTTAGGAATATAAGGTTAAGATATCATATGGGTCAGGTCAT
TTTTTTTTTCTGTGCTGGTTGCCACATCTTAGCAAGCACCAAAAAACTAAAGCAGTTTTTAAACCGATATTTACGTAAAGAAAATCATAAAATCCAATGCTTCTGCATACTGTGTTATGTTACAGTCC
AGTTTTGTGTGCTTTACTACACAGTTTGGTTACAGGACTTCTGTGCATTGTAAACATAAACAGCATGGAAAAGGTTAAATACCTGTGTTCAGATTGTAAGATCTAGTCCGGACTTGCTGTGTATATTG
TAACGTTAAATGAAAAAAGAACCCCCCTTTGTATTATAGTCATGCGGTCTTATGTATGATAAACAGTTGAATAATTTGTCCTCAGACTCTTTACTATGCTTTTTTAAAAATTAATTTAAGAAAAATGT
AAACATAGTAAAAATCTTCCTATGCAATTAAACTGGTCCAGGTCTGGTAGGTATAGTATCAAAGTTGAGTTAAATGTGTAAAAAGGAAACTATTTGAGATACATTGACATAGGCATCAGCAATCTCTG
AAAGTAAAAATTGGAGGTTTAACAGATCATTTTGATTTTTCACATTGATTTTTTTATTTGAATGTTTACATAATTTTGTGATTCAAAATGCTCATATTTTAGTTGGTAGCATTTCGACTGGATGTGAG
GGTCTGATGGTTTTCTCTGATATGCTTTGACGTGCTTGGATGAAGGAAGGAATACGAATACTCATTCTTCCTTCCCTAACTCCTCGTACGGGGCCATATCAGAATTCTAGAATTCTTGCCACTGTGAT
TCAATTGCTAACCTAAAGTCTTCTCTTTTTACAAATTCACCTGCTTCAGTATATATTAAGGTGGCTTTCGAGAGGCAAGATGCTTATTTAAAAGTTAAGCGTGAATCTGTAAAATTAAGGTTGGTTGC
GTAAAGTTGAAGTTAACCACATGTAAGAAAGGAAAACTTCCATTAGTTTTCTTCTTAGGGTGTGAGAATTTTACCTAGGCACATGGATATTGGGCTGAAAAAAAAAAACCGACATTTTTATTTAAAAC
TACATGTAAAAAATCATGAAAGATTCAGTAATTATGTTAGGCTCACAAGTGACCATTGAGTTTGCCCCTGTACTGCTTCCCAGCTTTTGTGGTGTTGAACTTTTCTGTTCTTCCAATAGGGAGATACA
TAATCAAAATACACACGAAGACGAGATAGCAGGCACTCAGTTCTAGGCCAGTTTCTCAGTTTCCTTTGGGCCTGCCTTTATTTTGATAGTCGCAGAATGCAGGTTCAGATGCGATCCGGTGCATTCTG
GGTGGTATCCCCATAGACAGAATACAAGTTCAAGACTCATTTTTATGTCCATTTTTATAGTGGTAGACTGTATGTAATAGACCAGATGGTTCATTCCAAATACATGACTTGGTCTTACTGCTATATAT
GAAGGAAGTTTGAAAATGTAATGGGGACAAAAGCCGTGCGTGACTTCGGTATACCCAGACTTCATTCAGATTTCTTAAAAATCTGCTAGGGATGTCTGTTGACCAGACGTTGGAAAACCTTTGGTGTC
AGGGAGAGTAGAGGAGAAGTTCTGATTTTCATAACCCTGGTTTCTTATCTAGGCCTGTTTCCTTGCGTGAAAACATACATCACCAAGTAATTTGTAGTACAAAGAACAAGAGAAGAAACCCTAAGAAG
ATAGCTTATTTGTTATCCTCCCTTTTAATGACTAACCTTAATCCAAATGAATCCACTGAGAACCAGCCTGTGGATGCCTACTGGGCTTTCACCCTGGACCAGGAATTTTTGACGTATGCCTGTGTTGA
AGGCACTGGATGCTTGTTTTGTGGAAGACATGTTCATTGAGGTAAGTGGCTCATCGCTTGGTGTGTTTGGCTCTCTTTGGCATTATGCATAGCCAAGGTCCCAGATTTTGGCTGCTCTCAGTGGGTGT
TCTTGCATCAGAACTTTAAAAAAAATAACACTACCTTAACACTGAGACTGTCAGGTATTTGTCAGTATTTATTTCTAATTTCCTACTTTAAATCTTAGGAGACAAAGTGTTTCTCCAACTGGACGCTG
ATTTGAAACACAACTAGAATGCTACAGGTCTCTCTTCCAGTATGCAGCTGCTGTACCTGAAAATTTTTCCCCATAATTTCCCATCTTTAGGGTATGTCCCTGTTATCAGGTGTGGAATTAATGTGGGT
AAATTTCCATTTCAGTTGAATTTCCTGTCATCCCCAGCAAAACCTGTGAATCCTTCTTCAAAGCATAGAGGAGGCAGAGACAAGTCTTAAACCGGCTTCCCTTCGCTTTTACCAGGTAGCCTGGTTCA
GTCCCAGCTGGGTCCTGAAGGAGCACAGTACTAGAGCCTGAGTCATGTTGACTATTAATAAAGTGCATTAAGTTTGGGTCAGGCAAAGTGGTGGCAAAAGTTCATGATGCAGGACAGAGGAAACAAGT
GGACAAGACAAGTGGAGCCCAGCTCTGTTCGCATGGGAGGCCGGGCGATGCTGGCATGGGTGTGGTTGGCCGAGTTCTCATAGCTAGAGAAAGGCCGTGTAGGTATAAGTGCTTAATGTTTCATCTGT
CTGAAAGACCAGCTATTTGATAATCTTCCCGATTAAATTTCTAAAATTGCTACTTTGGGAATTTTTTTCTTTATTCTTGTAAAGTTTTGCTTCCATTATATACTCATTCATTAGTCAGTGTACTTGCC
CCTGAATTCCATATCTGAAACTGCAGTCACGGGAGATTCAGAGCCAAGGGCAAAATAAAGTGGCAGGCACTGGGTGTGTGTGGTAGTTCTGCACTAGGGTGGCCAGGAAGCAGCCAAGCAGGTGTGCC
GGGCAGGGAGTTGTTAATGAACACCCAGGCAAGAGGACGGGCCTGAGCCTGAGTGTGGCCAGCAGAAAGTGTTGAGTTGCTTAAAAGAGACCCTGGGAGGATGAATTTGGAATCATCATCCACTCACT
GTTGGACAGAAAGACTGCAGAGAAGGGCACTGCTGGGGTGGGGTTTGTTAACTCCCTCTGAAATGAAAGAAAATACCTCTAGTGGCATGAAACGGCTAAGTTTTTTTTAATGTTACTTCTTTAATTTT
AGAGACGGTGTCTGGCTTTGTCACGCAAGCTGGAGTTTGGTGGTGTGATTGCAGCTCACTGCAGCCTTAAACAACTGGGCTAGGTGATCCTCCCATCTCAGCCTCCCAAGTAGCTGGGACTACCTGTG
CACACCACCATGCCTGGCTGTTTTTAATACGGGGTTTTGCTGAGTTGCTCAGGCGCTCCTCAAACTGCTGGCCTCAAGTGATCCTCCAGCCTGGGCCTCTCAAACATAAATAGGCTGGGCGTGGTGGC
TCACGTCTGTAAAGATTTAAAGCGGAAAAGCGGAATGCAGTGAAATAGCATGAGAAAGAGCGTTTTTATGTACATCACAGACAAGCCTTGTTCTGCTGAAGAGGTGATGCCACGAGGTGGGGAGGAGC
TCACTTCAGGCACCACTCCCACTTCCATTGCCCGCAAATCCAGGAAAGAAATGACTAATGAACTCTAGTGATCGCAAACTGCTCAATCGGTACTCATCAATTTAAAATGACTGTCCAGCCTTGCTGCA
CACTAAACTCATCTGTAGAACTTTATAAAACCACGGATGACCATCACACTAGCAGGATTTTAGATTCAGAGTTGGGGTGGGGCCTGGAGCTCTGTTTTCTGAAACTTTGCGGGCCATTCTGAACCTGC
AGCCAGGCAGGACTCTGGCAAGAAGAGGCGTGTGGCTAATATGACGGAAGTCTGAATCCAAGGACTTTTTTTTTTTTTTTTTTTGGAGACAGTCTTGCTTTGTCTCCCAGGTTGGTGTGCAGGGGTGT
GATCTCGGCTCACTGCAACCTCCATTTCCCAGATTCAAGCGATTCTCGTGCCTCAGCCTTTCAAGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATAGTATTTTTGATAGAGAGGGGGT
TTCGCAATGTTGGCCAGGCTGGTCTTGAACTCCCGACTTCAAGCTATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACTTCACCCAGCCCCAAGAACATCTTGAAATGGAG
TTTGATTACCAAAGTTTACATAGAGTAATGGATAATTAAAATTTTCAATTTATGGTGCATTACAAAATGTTATAAACAAGCCTCCGGGAAAGGCAGAAATTGCCAGATGTAAGTATATAAAACTTACA
CAGTTTGTTCCTTTTTGTTGTCTTCCCTTGTGGAGATGGGTCAGTGTAACATCCTATTCATTAATAGCTCTCAGATGTCCCATGAGAATGGCACATGTTATTTCCCAACAGTGGGAATGGAATTAGTT
CCTTTATATCTCAGTCTCATCTGGTCTTGTAAGCCGGTGAAGGGTTTCCCAGGGCACCAGCCACCAGCTCTGTATAGTAGTTACAGTTTCCCTCTCTAGAATCCCAAAGAGGTTCAGATCCCACTGCT
CCTCTCATTGGCTTCGTGACCCTGGGTACGCTGCTCAACTTGCGCAAGGATTACTGTCCGCTTTGTACAATGGAGATACCTATAGTGTCCACTTAGGAGATGCTGTGCATGCCTCAGTGAGGTAATGT
CCGCAGAAAGCACAATGCCTAGTATGTAGAAAGTGTCCGATAAATATAATATGCGGCTAAACAGCGGAGTCCACAGCCTGAATGGAACTTCTTTTTCTACGTAAATACAGCAAACAATGCAGGGAAAT
GAGGTGGACAGTGTTCTCCGTGGAGGGCTAAACAGCATTGCTTTCCAGCTGACTTTTATTTTTGGAGTCTGGGACTAGGTGTTAACATTCCTTTACTAGTTGGTTTTGCATACCGCACAGTCCCTGCA
TCTATTTAAGAGTTTTGAGGTTTGTTGTGGGAAGTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC
TCCTGGGTTCACGCCATTCGCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACTGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGGCAGG
ATGGTCTCAGTCTCCTGACCTTGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGGGAGTTTTTCGGTAGTTTGCTTTGCCTTGATAAACTATATGATATTTAAATGTTTTA
TAAGGATGGGTTTTCAGTAGAATTTCTCTGTACAACCTCAGGGAGACTGCCTGGAGGAATAACTGTGGTAAGGGTCTGTTTTTGAACAGGCATGGTCATTAGACCCTTGTGATCACGCATCCAGGGGC
CAGTCCCCACCCTTTGCTCCCACTCCAAGGAAAGTCTGTTACATTTTTAGCCTTCAGAGGTTTGATGTAGATAGGAAGAGATGAGGGTGACAGAAATCAGCTCTTAAGTTTATAAATAAAACAGGGAT
ATTATCGGGGAAGCTTTTGAAATGTAATAGGTTGTAACCCACATTTTGAAAGCAGTAAGGAAATAATTGCTGCTTTTTTCTTCTTCTTTATTCTGTTGACTTTGTTGATAATATTAGGTGACTACATC
GAGCCTGGGTTCTCTCAGTATTAGCCTGTTATTCCTAAAGTATCATCCTCTCCTTGTATCAAATATAAGGACAAAAATGTCTTAGGATAAAAGTCTGTTTGTTTGCATTAGACTATACATGATTTGCA
TTACAATGGGCCGTGGATTTGGATGGATGATGAAGCTGAAACAAGGGACCTAATCATGGGATTTAACTGTTCACTTCAGGTAGATAAGATATTTCTGGGAGAAGTAAATTGGATGAGCTTTTGTGCTT
CCCAGCAGCTCCAGGTCTTGTCCCTGGCCAGTCTGGGCAGCTCTGCGCTCAGAGGCCTTTGGCACGATGGGTCCTCCCAGCAGGGGCTCCAGCGCTCACCGCTGGGTGAGATCTACAGGGCTCAGTGC
GCTTGGAGTCCTGGATTCCTCCAGGACTGCTACTGTATTCCAATTGAGTGGTGGTTTGCTCTTCACAGAGCGCTTACATGGGATTCTTACCTTCTGACTGGAGTGTCACCCTCGCCCAGGAATGTGGG
TGCTGGAGAGACGGGCTACCTCTTTCTGTAGGCGGATGTTTCTGAAGGCATCTCCCACTGATTATGTAATGACAGCTACTTAACATCTTCTGTAGTCTTGAAGAATTCAGATGAGGAGCTTGTCCAGG
GAGGGCTCCCACGTGCGTATTCACTAATTGTGGTCTTTCTCCCCAGCTCGGTTTTGTTTGCGTATTAGAGTTCTGACCATCTTCACTAGAAGTGGGGGCGGCTAGCAGTGACTAGATGCAAGAAGCAA
AACGGTAAATTTCCTTTTACTGGCAAAATTAAAACAGTGAACTTGAAATATCTCCCCTACTCCCTGCAGAGACACTCTGAATCAAAGAAAACAATCAGTACTAACCCTGGAAACAATTTAAAAATGAA
CAAAAAGTCCTACCCTGAAGAAGAAGAATGTCTTACCAGCAAACGGTCTTGGGACAGCTGGTGTGAGAACTATATAAGAGAAATCAACAAATATTAATTGAACACCAGTCATGTGCAAAGCACTTAGC
TAGGTCTTAGGGATGAGGACAAAAAGCATGTCACATTTTGTTGTTATAAGTGGGAAAGATAAGTAATTACAAGTAAGCCCAGTGTTTTTAAAAGAGTGTGAACAGAGACCTTATTCTAATCCAGAGAG
GCTGTGAAGTGCTGTATTCCCAAGGAACTGAAGTTCTAGCTGATACCTAATGGAGGAATGGGTGTTATCCTGGTGGGAATGCCCTAGAATCTAGGAGAAGACAACAGGCCATTCGAAGGTGAGGAGGC
TTGCCAGCATCAGTTTATAAGTGGACAGAGTCGAGAGCTATTTAGGAAGGAGAGCTGACAGACCTCGGGGACTGAATGGATGCTGGGAGTAGGGGTGAAAAGAGAGGAGTCAGGCTTCCTCCCAGAGT
TTGAGGACTTTGAGTGCTAAGGGCTTGTAGGAGAACGTTGTGGAGATGTCCGGTAGGCATCTGAAAGAATGGATGGAGGAGGGGAAAGTCGGGCCTGGGAATGGCCAATTTCTGGTCATTCTCATATA
GGCAACTGATGGCGAAGGGGATGACCTAGAGGGAGTTGGGAGGACAGCCTAGGATACGTAAATAAGAGAATCTTGTATGTTCTAAAAATTAACATCATTGCAGCTTCCTCAGCCCTAGGATGGTTTTT
AGATCTATCAAGGGATAGAAGATTGTCCAGCCCCTTGCTGCCCAGTGTAGTCAGTGGGCTGACGACATTAGCATCACCTGGGTGCTTGCTAGCAATGCAAAATCTCAGGCCCCAGCCCAGACCACTGG
ATGAGAATCTGCATTTGAACAAGGTCCCCAGGTCATTCATGCACATTCAAAGTCAGAGACACTGCCCCAACACCTCACTTTAGAGTGAGAAAACTTAACAGGTTTAAGCAACTTGCAGAAGATGACAC
AACTGACCAGCGACAGTCTGTCTTCTAGTCAGGCCTCTTTCCAGTTCTCCACGCTGACCTTGACTTTCGAGATCACATACCAAGACCTTCAGCTGGATGGTCCCTGTAGCTGCTGTGACCACTAGAAG
CAGGGTTAGGGGCGAGACTAATTTAATATCAATTAATGTAGACACTAGGCTTAGGGCTAGGGAAAATGTAGTGAAGGATGCCTGTATTGTCCTAATGAACCACACTGGTGCCTACAAAATTTTTATTT
TGGCAAAACCGTCCATGAATTTGGAGATGTTGAACAGGTTTCTCTCCGACAATCGTCTCGTTTAATTGTGAAACTAGAATCACTTCCAGGAAGCTCTGAAGAATCAAGTCTGAGTGATGCAATGCTGC
TTCCTCCTTCCTTCTCAAAAGCCTGCTCTTTGCCCATTTCTCTGTTCCCAAGGTCATTTTCTCCCCTTCTTGTTTCCAGGATCCACAGTTCCTGCTCTGCTTCCGCTTTCCCCACTGCTGGTTCAGGC
TGTCTGCAGCAGCAGCAGCTCCAGGGTGCTGGGACACTGCTGGGTGACGCTCCACAGTGTGTGCTTCCCCATGTGGCTTCCACAGTCCCCTCTTGCTTCTCCCACATGTTAGTCTTCATAGATTAGTC
TTCATCAATTCTTAGTATTATTTTTTAGGGATAGGGTCTTGCTGTGTTGCCCAGGCTGCAGTGCAGTGGTATGATCTCTGCTTACTGCAGCCTCCACCTCTGGGACTCAGGCGATCCTCCTGCCTCAG
CCTCCCAAGTAGCTGGGACCACAGGCGCATGCCACTGTGCCTGGCTAAATTATTTTATATTTTGTAGAGTTGAGGTCGCACTTTTTTGCCCATGCTGGTCTTGAACCCCTGGGCTCAAGCGATCCTTC
TGCCTCAGCCTCCCATTACGGGCAGGAGCCACTGCACACAGCTGATGAATTTTCGTTTAGGCCCCTTTCTTTGTGAGAGGGGGCCCCAGGATTATGCCCCGGGATTAAAAGAAGCTGGGAGGCTCTCC
AGGACCCTGAACAAAGGTGGAAGTAGGGTTGTAAATGGAAGAAAAAATAAGAGAGATTCATTATGTTCTAATGACTATGAGGGAAGCTTTAGTTTTTGTCTCCCTGAAGCATCAACCTGCTTTCCTGC
TGCTGTTATCACATCCTTCCAGGGCTATCGGCTGTTCAGGAACAGGAGAGCTCTGGAAGAGCAGGGACGACTTTGGCTTCTGTTTCCTGCCCATTGCAGATTAGGCATCAGCAAGGTACCCTCCTGTT
TTTGTATGGCTCACCAAACTAAGGGTGATTTTCACATTTTACATGGCTGAAAAACATCAAATGATATTTCAGGACATAGGGAAATTATATGACATTTGAATTTCAGTGTCCATAAATGAAGTTTTATT
GGAACATAACCACATTCATTTGCAAGTTGTCCACGGCCACTTTGGTGCTACTGTGGCAGAATTGAGTAGTTGCTGCAGAGACCGTATGATGAGAATATGTGGCATTCTCATCATTTTGCCCTGCCGCT
CTGTGCAATGTAAATTGCAGTGACACAGTTATAACTCAGCAGCATTTTGAATGCCACTTGTATTCCCATGCTACAACATTTTATTTTTTATTACCAATATATACAAGAAAAGTGGATTTCAAATATCA
TTGTGCTTTTAAGGTACAATGGAGTATGAATTGTTACTGAATTAGGCAGCAAAGTGCAATGACATGGTAGCTGTCCTAAGGAACACAATACAACCAGGTGCAGTGGCTCATGCCTGTAATCCCAACGA
TTTGGGTGGCTGAGGTGGGAGAATCACTTGAACCCAGGATTTGGAGACCAGCTTGGGTGGTATAGTGAGACCCCCCATCTCCACAAAAAGTAAAAAAAAACCAAAATACATGTTGTTACTTCCCATCT
TAGCACTCATCAAGATATTTCTAATTCACAAGAAAGCAATGGTCAGAAAAATTAGAAAATTTAAAATTGAATATCTCATCACAGAATTTATTCACAAAAATAAAAAATGAAAATGAAGCTACAACCAA
AGTAAGTTTCAGATGGCTCATTTGTTAGCCAAGCAAGGAAAGTCACTTATGGTGAATTAATTAAATCATGCTTGATTACTGCAGCTGAAGAAACATGCTCAGAGAAAGTAAACTTGTTTATTGGCCTT
TCCACGACAACAGTTGCTCAAAGAGTTGACATTAGGAATGACATCAGTAGTCGACTAAAAAGGCAAATGGTTTTGAGTGGTTTCCCCTGACTCTCATGACAGGGGTCACCATATGTTATGCACACTGC
TCCGCTATTGCTCTTTATTTGAGGAGCCAGTACCAAGTTGGAAGTAACTGAAGAATTGGCCTCTATCAATAGTCTTATGTGGAACAACTACTGGCAAAAGTATTTTCAAAGCTGAGAAAACTGGTCAG
GTGTGGCGGCTCATGCCTATAGTCCCAACACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGTGAAACTACATCTCTACTAAAAGTACAAAAAT
TAGCCGGGCATGATGGCATGCACTGGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCACCACTGTACTCCAGCCTGGATG
ACAGAGTGAGAACATTGTCTCAAAACAAAAAGTTGAGAAAACGAATTCAGTACACCCTGAAGTGGAATCTGCTAAGATGTGTTATGACTGTTGGTAGTGGAAATATATGTGTGTATTAGTCCATTTTC
ATACTGCTATAAAGAAAAGCCTGAGACTGGGTAATTTATAAAGAAAAAGAGGTTTAATGGACTCACAGTCCCGCATGGTTGGGGAGGCCTCACAATCGTTGTGGAAGGTAAAGGAGAAGCCAAGGCAA
GTCTTAGGTGGCGGCAAGCAAGAGAGTGTGTGCAGGGGAACTGCCCTTTATAAAACCATCAGATCTCATGAGACTTACTCACTATTATGAGAACAGCATGGTAAAATCCTGCCTCCATGATTCAGTTA
CCTCCCACTGGGTCCTACCCATGACACGTGGGGATTATGGGGGCTACAATTCAATGAGATTTGGGTGGGGACACAGCTAACTCATATCAGTGTGGAATAGAAAATGGCTCAGTTGGACAACTTACAAA
GCTTGTAATAATATAAGGTGTTAAAGCCTATAGATTATTCATTGTATTATTTAAGTCAACAGATACTTTGTGAGAAATATTTGAATCTATCATGCATTATTGAACCAGTATTGTCAATAGTGAACTTC
CTTTAGCTCTTGTGGACTTCACTATCAACAGCTCTCATGAATTTTTGTCAGAAATATTAGCTGAATATCCCGACATGGCCTGTAATACAGCAGTTCAATGGTTTAGTAGTGGTAAAGTTTCATTTAAG
TTTTGAGCTCAGGACAAAGATTGAAATTTTTCTGAATGAGAACTGCCCCGAACCACCGTTACTAAACACTGAATAGTTTTGGAAATTCACTTTTGCTGCAGACTTGATAGTGTTTCTTAAGGAATTCA
GCCTAAACCACAAGATAAAAACAGTGTTTATGTGAAACTCCTACTGTGTTAAGTGATTTCAAGAAGAACTATTGTTTGAATCACAACTAATGTTACTGCTTTAAGCTCTTCCCATGTTGTTAAAAGTT
AAAAAAAGAAGAGCTCCATTCCCACACACATTTGCCACAGATACATTATCTGAGCCCAAACTACAGTTTGAGCAGTGTGTTAGGGACCTCAATGCAAACCCAAAAGAAATTTTTATATTTCAGAATCC
ATTGATCTGCATTTGAGAAGTGATTAATGTGTTGAAAGGCAACTATCTAAAGAAAAATTTAATAGAGTCTAATAGAATCTTATAAAAATGTATAAATGTGTTTTATGTAATAAATATGCTAAGCTAAA

hide sequence

RefSeq Acc Id:

NM_001347722 ⟹ NP_001334651

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	37,366,073 - 37,526,358 (+)	NCBI
T2T-CHM13v2.0	21	35,748,388 - 35,908,739 (+)	NCBI

Sequence:

show sequence

GGCATTTTCCGGCTAGGAGGCCCGCCAGCCCTTCGAAGAACCGGCTCCACGCGCGGACGGTCGCGGCCGCCGCGCTTCCCGGGGAGAGAGGCGAGCGCGGCGCCCGGACCGCGTGTTATAGTTTTGCC
GCTGGACTCTTCCCTCCCTTCCCCCACCCCATCAGGATGATATGAGACTTGAAAGAAGACGATGCATACAGGAGGAGAGACTTCAGCATGCAAACCTTCATCTGTTCGGCTTGCACCGTCATTTTCAT
TCCATGCTGCTGGCCTTCAGATGGCTGGACAGATGCCCCATTCACATCAGTACAGTGACCGTCGCCAGCCAAACATAAGTGACCAACAGGTTTCTGCCTTATCATATTCTGACCAGATTCAGCAACCT
CTAACTAACCAGAGGCGGATGCCCCAAACCTTCCGTGACCCAGCAACTGCTCCCCTGAGAAAACTTTCTGTTGACTTGATCAAAACATACAAGCATATTAATGAGGTTTACTATGCAAAAAAGAAGCG
AAGACACCAACAGGGCCAGGGAGACGATTCTAGTCATAAGAAGGAACGGAAGGTTTACAATGATGGTTATGATGATGATAACTATGATTATATTGTAAAAAACGGAGAAAAGTGGATGGATCGTTACG
AAATTGACTCCTTGATAGGCAAAGGTTCCTTTGGACAGGTTGTAAAGGCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTAAAATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATA
GAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGAAATGAAATACTACATAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCT
CTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATC
TAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGATATACCAGTATATTCAGAGTCGCTTTTATCGGTCTCCA
GAGGTGCTACTGGGAATGCCTTATGACCTTGCCATTGATATGTGGTCCCTCGGGTGTATTTTGGTTGAAATGCACACTGGAGAACCTCTGTTCAGTGGTGCCAATGAGGTAGATCAGATGAATAAAAT
AGTGGAAGTTCTGGGTATTCCACCTGCTCATATTCTTGACCAAGCACCAAAAGCAAGAAAGTTCTTTGAGAAGTTGCCAGATGGCACTTGGAACTTAAAGAAGACCAAAGATGGAAAACGGGAGTACA
AACCACCAGGAACCCGTAAACTTCATAACATTCTTGGAGTGGAAACAGGAGGACCTGGTGGGCGACGTGCTGGGGAGTCAGGTCATACGGTCGCTGACTACTTGAAGTTCAAAGACCTCATTTTAAGG
ATGCTTGATTATGACCCCAAAACTCGAATTCAACCTTATTATGCTCTGCAGCACAGTTTCTTCAAGAAAACAGCTGATGAAGGTACAAATACAAGTAATAGTGTATCTACAAGCCCCGCCATGGAGCA
GTCTCAGTCTTCGGGCACCACCTCCAGTACATCGTCAAGCTCAGGTGGCTCATCGGGGACAAGCAACAGTGGGAGAGCCCGGTCGGATCCGACGCACCAGCATCGGCACAGTGGTGGGCACTTCACAG
CTGCCGTGCAGGCCATGGACTGCGAGACACACAGTCCCCAGGTGCGTCAGCAATTTCCTGCTCCTCTTGGTTGGTCAGGCACTGAAGCTCCTACACAGGTCACTGTTGAAACTCATCCTGTTCAAGAA
ACAACCTTTCATGTAGCCCCTCAACAGAATGCATTGCATCATCACCATGGTAACAGTTCCCATCACCATCACCACCACCACCACCATCACCACCACCATGGACAACAAGCCTTGGGTAACCGGACCAG
GCCAAGGGTCTACAATTCTCCAACGAATAGCTCCTCTACCCAAGATTCTATGGAGGTTGGCCACAGTCACCACTCCATGACATCCCTGTCTTCCTCAACGACTTCTTCCTCGACATCTTCCTCCTCTA
CTGGTAACCAAGGCAATCAGGCCTACCAGAATCGCCCAGTGGCTGCTAATACCTTGGACTTTGGACAGAATGGAGCTATGGACGTTAATTTGACCGTCTACTCCAATCCCCGCCAAGAGACTGGCATA
GCTGGACATCCAACATACCAATTTTCTGCTAATACAGGTCCTGCACATTACATGACTGAAGGACATCTGACAATGAGGCAAGGGGCTGATAGAGAAGAGTCCCCCATGACAGGAGTTTGTGTGCAACA
GAGTCCTGTAGCTAGCTCGTGACTACATTGAAACTTGAGTTTGTTTCTTGTGTGTTTTTATAGAAGTGGTGTTTTTTTTCCAAAAACAAAGTGCAAAGCTGCTTGAATCAGGAGGAGATTAACACACT
GAACCGCTACAAGAGGGCAAAGCTGATTTTTTTTTTAACTTGAAAAGATTGCAAAGGGACATTGAAGTGTTTAAAAGAGCCATGTCCAAACCCATCTTCATGGATAGCTCAGAGGTATCCTCTTTTTG
CTCCCCCATTTTAACTTGCCACATCCCAGTCACAGTGGGGTTTTTTTGTCTTTCTATTCAGCAAAAGTTAATATTCAGATGTTGGTCTTGGTCATTTGCCAACTAATTTTAAAGTAAAAGGCACTGCA
CATAATTTGCATAAAGGGCCCCATGAGGGTGTTTTTTTTTTTTCTTTTTGTCCCCCCCATCCCCCTTTTTTTTTGTTTTGTTCTGTTTTGTTTTGGGTGGGAGGGTGGGAAATTTGGGTTTTTAAGTC
CTCTAAACACACTTGGGCACGGAAATGCAGTACTGTAAGGAAGAGGGACCTCCAGCTTCCACAAACACCATCTTCAGCTGTATGAAAGGGACGGTTGTGGTGAAGTTTGTCAGGCACAGTAAGCATGC
TGAGTGGCGGGGATCAGAACTCTCCTATCTGAACCTACTGAGGAGCAAAGCAGCAATTACATGGGATCCTGTGGCTCTCCCGTTGCAGAGGCCACAGGAAGATAGGATGGAACGTGACTGGTCTCCTA
ACCAAGGTGCACTGAGAAGCAATCAACGGGTCGGTCGTGGCCAGTCCTGGGGAGGTCTGAGTGGTGGTCTTTGGGATAACCTTTGGCCTTATGGATTTGGACTCGAAATTAGAAGAGCCTACCATTTC
AGATGCAATCACTTTTGGACATGCTTTTGCAGACAGTCCTTAATGCTGAAAACACAGAGAATGGGTAATTCAAGAGGCCTTTCTTTTAAAATAGACTTTTGTGACCCACTAATTGTAAGGTATTGCAA
GGTCACTTTGCGTGTGTCATAAAGTTGACTTCCTTATTGGTTGAAGGTCACAGAAGTAGTGGTTTGCTTTGATGGAAATAGCTACAGCTGTGTCCCTTCCTGCTTTTTACTTTTTCTTTTGCTTTTTC
TCGGCACGTGGTATCTCCACCATTTCTTCTGCACAAAGATGTCTTCTGTTCATCCTGAACATTTTTAAAAAATGCAGAATTTTATGTGACTGCTTTTTTGCCTCACAATTATGCTGTGAATTTTACAA
AAATTTATTTTCTTTTTTGATAATTTATTGTACCAAAGCTGTTTTTATAGCACATAGATGTCTGTAACCAATAATGTAGCAGTTCTGCACTTTGACACAAGGTGTAACTAGACCATTTTTAAATGTCA
GTTGAAAATTATGGCTGTACTATTGCTTAAACAAAACTGGAACTGTTGTTGAATCCATAGCCAATACATTTACAGCAATCTGTGTACTGAACATAGTAGATTGACATCTAATTCAAGATTACAACATC
TGTTACATTCTAAGTGTGTTCAGGCTTCTGAAGGTAAAGGGACACTGGATCCAGAAGCTATGGAACCAGCAGTTGATTCTTGTATTCCTGATTAACCTACTTGTAAACTTGAAAGCAAGACCTTGATT
GCACCAACAGGTCCAGAGTATGAGTGCAAGCAAAGCAGAACTCTCATGCGTGACCTGAGCAGACAGGCTGGTATTTAACAGGTGCCTCGTGTTGAGATTACGCTGCCTTAATGTAACACAGTCTGGCA
GTTGCTAAATTTGTGTTCCCATTTTAAATTGACCAATTTTGGGGTGTGACACTTTTGAGCGGTTGAATTGGGAGAATGAAGATAAGTAATTTACCTGTCCAGGATCAAAAGAAGCCTAGAAAAGAAGC
AGTAATCTACCTCTGCCGATAACCTGTTTAAGATGACTCAGCAGAACACCGCGTTTCATTCTATTGGTCAATTCCATGTGGCTGACTAGGTCAATTTTTTTTCTGAACAAAAGCAGGTTTTTATATGT
AAACAGTGAGAAAAGAAAGGCTAAACACTATGTAAATGTGAATGGAAACTTGGAAATACTCGTTTTTATAAACTACAAAAACTTTTTGTTGTTTATCAGGAAATCCATATTTATTTTGTAATTAACTG
TCAAGCCTGTGGATGATTTTTTTGAACTTGGTAGTTCATAAAGGTTTACAGTGAATAAAAGGATATCATCTTGAGTATAGCAATATCAAAAGGAATTCAGTAGTTACTGCTGTTTAGGAATATAAGGT
TAAGATATCATATGGGTCAGGTCATTTTTTTTTTCTGTGCTGGTTGCCACATCTTAGCAAGCACCAAAAAACTAAAGCAGTTTTTAAACCGATATTTACGTAAAGAAAATCATAAAATCCAATGCTTC
TGCATACTGTGTTATGTTACAGTCCAGTTTTGTGTGCTTTACTACACAGTTTGGTTACAGGACTTCTGTGCATTGTAAACATAAACAGCATGGAAAAGGTTAAATACCTGTGTTCAGATTGTAAGATC
TAGTCCGGACTTGCTGTGTATATTGTAACGTTAAATGAAAAAAGAACCCCCCTTTGTATTATAGTCATGCGGTCTTATGTATGATAAACAGTTGAATAATTTGTCCTCAGACTCTTTACTATGCTTTT
TTAAAAATTAATTTAAGAAAAATGTAAACATAGTAAAAATCTTCCTATGCAATTAAACTGGTCCAGGTCTGGTAGGTATAGTATCAAAGTTGAGTTAAATGTGTAAAAAGGAAACTATTTGAGATACA
TTGACATAGGCATCAGCAATCTCTGAAAGTAAAAATTGGAGGTTTAACAGATCATTTTGATTTTTCACATTGATTTTTTTATTTGAATGTTTACATAATTTTGTGATTCAAAATGCTCATATTTTAGT
TGGTAGCATTTCGACTGGATGTGAGGGTCTGATGGTTTTCTCTGATATGCTTTGACGTGCTTGGATGAAGGAAGGAATACGAATACTCATTCTTCCTTCCCTAACTCCTCGTACGGGGCCATATCAGA
ATTCTAGAATTCTTGCCACTGTGATTCAATTGCTAACCTAAAGTCTTCTCTTTTTACAAATTCACCTGCTTCAGTATATATTAAGGTGGCTTTCGAGAGGCAAGATGCTTATTTAAAAGTTAAGCGTG
AATCTGTAAAATTAAGGTTGGTTGCGTAAAGTTGAAGTTAACCACATGTAAGAAAGGAAAACTTCCATTAGTTTTCTTCTTAGGGTGTGAGAATTTTACCTAGGCACATGGATATTGGGCTGAAAAAA
AAAAACCGACATTTTTATTTAAAACTACATGTAAAAAATCATGAAAGATTCAGTAATTATGTTAGGCTCACAAGTGACCATTGAGTTTGCCCCTGTACTGCTTCCCAGCTTTTGTGGTGTTGAACTTT
TCTGTTCTTCCAATAGGGAGATACATAATCAAAATACACACGAAGACGAGATAGCAGGCACTCAGTTCTAGGCCAGTTTCTCAGTTTCCTTTGGGCCTGCCTTTATTTTGATAGTCGCAGAATGCAGG
TTCAGATGCGATCCGGTGCATTCTGGGTGGTATCCCCATAGACAGAATACAAGTTCAAGACTCATTTTTATGTCCATTTTTATAGTGGTAGACTGTATGTAATAGACCAGATGGTTCATTCCAAATAC
ATGACTTGGTCTTACTGCTATATATGAAGGAAGTTTGAAAATGTAATGGGGACAAAAGCCGTGCGTGACTTCGGTATACCCAGACTTCATTCAGATTTCTTAAAAATCTGCTAGGGATGTCTGTTGAC
CAGACGTTGGAAAACCTTTGGTGTCAGGGAGAGTAGAGGAGAAGTTCTGATTTTCATAACCCTGGTTTCTTATCTAGGCCTGTTTCCTTGCGTGAAAACATACATCACCAAGTAATTTGTAGTACAAA
GAACAAGAGAAGAAACCCTAAGAAGATAGCTTATTTGTTATCCTCCCTTTTAATGACTAACCTTAATCCAAATGAATCCACTGAGAACCAGCCTGTGGATGCCTACTGGGCTTTCACCCTGGACCAGG
AATTTTTGACGTATGCCTGTGTTGAAGGCACTGGATGCTTGTTTTGTGGAAGACATGTTCATTGAGGTAAGTGGCTCATCGCTTGGTGTGTTTGGCTCTCTTTGGCATTATGCATAGCCAAGGTCCCA
GATTTTGGCTGCTCTCAGTGGGTGTTCTTGCATCAGAACTTTAAAAAAAATAACACTACCTTAACACTGAGACTGTCAGGTATTTGTCAGTATTTATTTCTAATTTCCTACTTTAAATCTTAGGAGAC
AAAGTGTTTCTCCAACTGGACGCTGATTTGAAACACAACTAGAATGCTACAGGTCTCTCTTCCAGTATGCAGCTGCTGTACCTGAAAATTTTTCCCCATAATTTCCCATCTTTAGGGTATGTCCCTGT
TATCAGGTGTGGAATTAATGTGGGTAAATTTCCATTTCAGTTGAATTTCCTGTCATCCCCAGCAAAACCTGTGAATCCTTCTTCAAAGCATAGAGGAGGCAGAGACAAGTCTTAAACCGGCTTCCCTT
CGCTTTTACCAGGTAGCCTGGTTCAGTCCCAGCTGGGTCCTGAAGGAGCACAGTACTAGAGCCTGAGTCATGTTGACTATTAATAAAGTGCATTAAGTTTGGGTCAGGCAAAGTGGTGGCAAAAGTTC
ATGATGCAGGACAGAGGAAACAAGTGGACAAGACAAGTGGAGCCCAGCTCTGTTCGCATGGGAGGCCGGGCGATGCTGGCATGGGTGTGGTTGGCCGAGTTCTCATAGCTAGAGAAAGGCCGTGTAGG
TATAAGTGCTTAATGTTTCATCTGTCTGAAAGACCAGCTATTTGATAATCTTCCCGATTAAATTTCTAAAATTGCTACTTTGGGAATTTTTTTCTTTATTCTTGTAAAGTTTTGCTTCCATTATATAC
TCATTCATTAGTCAGTGTACTTGCCCCTGAATTCCATATCTGAAACTGCAGTCACGGGAGATTCAGAGCCAAGGGCAAAATAAAGTGGCAGGCACTGGGTGTGTGTGGTAGTTCTGCACTAGGGTGGC
CAGGAAGCAGCCAAGCAGGTGTGCCGGGCAGGGAGTTGTTAATGAACACCCAGGCAAGAGGACGGGCCTGAGCCTGAGTGTGGCCAGCAGAAAGTGTTGAGTTGCTTAAAAGAGACCCTGGGAGGATG
AATTTGGAATCATCATCCACTCACTGTTGGACAGAAAGACTGCAGAGAAGGGCACTGCTGGGGTGGGGTTTGTTAACTCCCTCTGAAATGAAAGAAAATACCTCTAGTGGCATGAAACGGCTAAGTTT
TTTTTAATGTTACTTCTTTAATTTTAGAGACGGTGTCTGGCTTTGTCACGCAAGCTGGAGTTTGGTGGTGTGATTGCAGCTCACTGCAGCCTTAAACAACTGGGCTAGGTGATCCTCCCATCTCAGCC
TCCCAAGTAGCTGGGACTACCTGTGCACACCACCATGCCTGGCTGTTTTTAATACGGGGTTTTGCTGAGTTGCTCAGGCGCTCCTCAAACTGCTGGCCTCAAGTGATCCTCCAGCCTGGGCCTCTCAA
ACATAAATAGGCTGGGCGTGGTGGCTCACGTCTGTAAAGATTTAAAGCGGAAAAGCGGAATGCAGTGAAATAGCATGAGAAAGAGCGTTTTTATGTACATCACAGACAAGCCTTGTTCTGCTGAAGAG
GTGATGCCACGAGGTGGGGAGGAGCTCACTTCAGGCACCACTCCCACTTCCATTGCCCGCAAATCCAGGAAAGAAATGACTAATGAACTCTAGTGATCGCAAACTGCTCAATCGGTACTCATCAATTT
AAAATGACTGTCCAGCCTTGCTGCACACTAAACTCATCTGTAGAACTTTATAAAACCACGGATGACCATCACACTAGCAGGATTTTAGATTCAGAGTTGGGGTGGGGCCTGGAGCTCTGTTTTCTGAA
ACTTTGCGGGCCATTCTGAACCTGCAGCCAGGCAGGACTCTGGCAAGAAGAGGCGTGTGGCTAATATGACGGAAGTCTGAATCCAAGGACTTTTTTTTTTTTTTTTTTTGGAGACAGTCTTGCTTTGT
CTCCCAGGTTGGTGTGCAGGGGTGTGATCTCGGCTCACTGCAACCTCCATTTCCCAGATTCAAGCGATTCTCGTGCCTCAGCCTTTCAAGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTA
ATAGTATTTTTGATAGAGAGGGGGTTTCGCAATGTTGGCCAGGCTGGTCTTGAACTCCCGACTTCAAGCTATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACTTCACCCA
GCCCCAAGAACATCTTGAAATGGAGTTTGATTACCAAAGTTTACATAGAGTAATGGATAATTAAAATTTTCAATTTATGGTGCATTACAAAATGTTATAAACAAGCCTCCGGGAAAGGCAGAAATTGC
CAGATGTAAGTATATAAAACTTACACAGTTTGTTCCTTTTTGTTGTCTTCCCTTGTGGAGATGGGTCAGTGTAACATCCTATTCATTAATAGCTCTCAGATGTCCCATGAGAATGGCACATGTTATTT
CCCAACAGTGGGAATGGAATTAGTTCCTTTATATCTCAGTCTCATCTGGTCTTGTAAGCCGGTGAAGGGTTTCCCAGGGCACCAGCCACCAGCTCTGTATAGTAGTTACAGTTTCCCTCTCTAGAATC
CCAAAGAGGTTCAGATCCCACTGCTCCTCTCATTGGCTTCGTGACCCTGGGTACGCTGCTCAACTTGCGCAAGGATTACTGTCCGCTTTGTACAATGGAGATACCTATAGTGTCCACTTAGGAGATGC
TGTGCATGCCTCAGTGAGGTAATGTCCGCAGAAAGCACAATGCCTAGTATGTAGAAAGTGTCCGATAAATATAATATGCGGCTAAACAGCGGAGTCCACAGCCTGAATGGAACTTCTTTTTCTACGTA
AATACAGCAAACAATGCAGGGAAATGAGGTGGACAGTGTTCTCCGTGGAGGGCTAAACAGCATTGCTTTCCAGCTGACTTTTATTTTTGGAGTCTGGGACTAGGTGTTAACATTCCTTTACTAGTTGG
TTTTGCATACCGCACAGTCCCTGCATCTATTTAAGAGTTTTGAGGTTTGTTGTGGGAAGTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG
ATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCGCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACTGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTGTATTTTTAGTAGAG
ATGGGGTTTCACCATGTTAGGCAGGATGGTCTCAGTCTCCTGACCTTGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGGGAGTTTTTCGGTAGTTTGCTTTGCCTTGATA
AACTATATGATATTTAAATGTTTTATAAGGATGGGTTTTCAGTAGAATTTCTCTGTACAACCTCAGGGAGACTGCCTGGAGGAATAACTGTGGTAAGGGTCTGTTTTTGAACAGGCATGGTCATTAGA
CCCTTGTGATCACGCATCCAGGGGCCAGTCCCCACCCTTTGCTCCCACTCCAAGGAAAGTCTGTTACATTTTTAGCCTTCAGAGGTTTGATGTAGATAGGAAGAGATGAGGGTGACAGAAATCAGCTC
TTAAGTTTATAAATAAAACAGGGATATTATCGGGGAAGCTTTTGAAATGTAATAGGTTGTAACCCACATTTTGAAAGCAGTAAGGAAATAATTGCTGCTTTTTTCTTCTTCTTTATTCTGTTGACTTT
GTTGATAATATTAGGTGACTACATCGAGCCTGGGTTCTCTCAGTATTAGCCTGTTATTCCTAAAGTATCATCCTCTCCTTGTATCAAATATAAGGACAAAAATGTCTTAGGATAAAAGTCTGTTTGTT
TGCATTAGACTATACATGATTTGCATTACAATGGGCCGTGGATTTGGATGGATGATGAAGCTGAAACAAGGGACCTAATCATGGGATTTAACTGTTCACTTCAGGTAGATAAGATATTTCTGGGAGAA
GTAAATTGGATGAGCTTTTGTGCTTCCCAGCAGCTCCAGGTCTTGTCCCTGGCCAGTCTGGGCAGCTCTGCGCTCAGAGGCCTTTGGCACGATGGGTCCTCCCAGCAGGGGCTCCAGCGCTCACCGCT
GGGTGAGATCTACAGGGCTCAGTGCGCTTGGAGTCCTGGATTCCTCCAGGACTGCTACTGTATTCCAATTGAGTGGTGGTTTGCTCTTCACAGAGCGCTTACATGGGATTCTTACCTTCTGACTGGAG
TGTCACCCTCGCCCAGGAATGTGGGTGCTGGAGAGACGGGCTACCTCTTTCTGTAGGCGGATGTTTCTGAAGGCATCTCCCACTGATTATGTAATGACAGCTACTTAACATCTTCTGTAGTCTTGAAG
AATTCAGATGAGGAGCTTGTCCAGGGAGGGCTCCCACGTGCGTATTCACTAATTGTGGTCTTTCTCCCCAGCTCGGTTTTGTTTGCGTATTAGAGTTCTGACCATCTTCACTAGAAGTGGGGGCGGCT
AGCAGTGACTAGATGCAAGAAGCAAAACGGTAAATTTCCTTTTACTGGCAAAATTAAAACAGTGAACTTGAAATATCTCCCCTACTCCCTGCAGAGACACTCTGAATCAAAGAAAACAATCAGTACTA
ACCCTGGAAACAATTTAAAAATGAACAAAAAGTCCTACCCTGAAGAAGAAGAATGTCTTACCAGCAAACGGTCTTGGGACAGCTGGTGTGAGAACTATATAAGAGAAATCAACAAATATTAATTGAAC
ACCAGTCATGTGCAAAGCACTTAGCTAGGTCTTAGGGATGAGGACAAAAAGCATGTCACATTTTGTTGTTATAAGTGGGAAAGATAAGTAATTACAAGTAAGCCCAGTGTTTTTAAAAGAGTGTGAAC
AGAGACCTTATTCTAATCCAGAGAGGCTGTGAAGTGCTGTATTCCCAAGGAACTGAAGTTCTAGCTGATACCTAATGGAGGAATGGGTGTTATCCTGGTGGGAATGCCCTAGAATCTAGGAGAAGACA
ACAGGCCATTCGAAGGTGAGGAGGCTTGCCAGCATCAGTTTATAAGTGGACAGAGTCGAGAGCTATTTAGGAAGGAGAGCTGACAGACCTCGGGGACTGAATGGATGCTGGGAGTAGGGGTGAAAAGA
GAGGAGTCAGGCTTCCTCCCAGAGTTTGAGGACTTTGAGTGCTAAGGGCTTGTAGGAGAACGTTGTGGAGATGTCCGGTAGGCATCTGAAAGAATGGATGGAGGAGGGGAAAGTCGGGCCTGGGAATG
GCCAATTTCTGGTCATTCTCATATAGGCAACTGATGGCGAAGGGGATGACCTAGAGGGAGTTGGGAGGACAGCCTAGGATACGTAAATAAGAGAATCTTGTATGTTCTAAAAATTAACATCATTGCAG
CTTCCTCAGCCCTAGGATGGTTTTTAGATCTATCAAGGGATAGAAGATTGTCCAGCCCCTTGCTGCCCAGTGTAGTCAGTGGGCTGACGACATTAGCATCACCTGGGTGCTTGCTAGCAATGCAAAAT
CTCAGGCCCCAGCCCAGACCACTGGATGAGAATCTGCATTTGAACAAGGTCCCCAGGTCATTCATGCACATTCAAAGTCAGAGACACTGCCCCAACACCTCACTTTAGAGTGAGAAAACTTAACAGGT
TTAAGCAACTTGCAGAAGATGACACAACTGACCAGCGACAGTCTGTCTTCTAGTCAGGCCTCTTTCCAGTTCTCCACGCTGACCTTGACTTTCGAGATCACATACCAAGACCTTCAGCTGGATGGTCC
CTGTAGCTGCTGTGACCACTAGAAGCAGGGTTAGGGGCGAGACTAATTTAATATCAATTAATGTAGACACTAGGCTTAGGGCTAGGGAAAATGTAGTGAAGGATGCCTGTATTGTCCTAATGAACCAC
ACTGGTGCCTACAAAATTTTTATTTTGGCAAAACCGTCCATGAATTTGGAGATGTTGAACAGGTTTCTCTCCGACAATCGTCTCGTTTAATTGTGAAACTAGAATCACTTCCAGGAAGCTCTGAAGAA
TCAAGTCTGAGTGATGCAATGCTGCTTCCTCCTTCCTTCTCAAAAGCCTGCTCTTTGCCCATTTCTCTGTTCCCAAGGTCATTTTCTCCCCTTCTTGTTTCCAGGATCCACAGTTCCTGCTCTGCTTC
CGCTTTCCCCACTGCTGGTTCAGGCTGTCTGCAGCAGCAGCAGCTCCAGGGTGCTGGGACACTGCTGGGTGACGCTCCACAGTGTGTGCTTCCCCATGTGGCTTCCACAGTCCCCTCTTGCTTCTCCC
ACATGTTAGTCTTCATAGATTAGTCTTCATCAATTCTTAGTATTATTTTTTAGGGATAGGGTCTTGCTGTGTTGCCCAGGCTGCAGTGCAGTGGTATGATCTCTGCTTACTGCAGCCTCCACCTCTGG
GACTCAGGCGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCATGCCACTGTGCCTGGCTAAATTATTTTATATTTTGTAGAGTTGAGGTCGCACTTTTTTGCCCATGCTGGTCTTG
AACCCCTGGGCTCAAGCGATCCTTCTGCCTCAGCCTCCCATTACGGGCAGGAGCCACTGCACACAGCTGATGAATTTTCGTTTAGGCCCCTTTCTTTGTGAGAGGGGGCCCCAGGATTATGCCCCGGG
ATTAAAAGAAGCTGGGAGGCTCTCCAGGACCCTGAACAAAGGTGGAAGTAGGGTTGTAAATGGAAGAAAAAATAAGAGAGATTCATTATGTTCTAATGACTATGAGGGAAGCTTTAGTTTTTGTCTCC
CTGAAGCATCAACCTGCTTTCCTGCTGCTGTTATCACATCCTTCCAGGGCTATCGGCTGTTCAGGAACAGGAGAGCTCTGGAAGAGCAGGGACGACTTTGGCTTCTGTTTCCTGCCCATTGCAGATTA
GGCATCAGCAAGGTACCCTCCTGTTTTTGTATGGCTCACCAAACTAAGGGTGATTTTCACATTTTACATGGCTGAAAAACATCAAATGATATTTCAGGACATAGGGAAATTATATGACATTTGAATTT
CAGTGTCCATAAATGAAGTTTTATTGGAACATAACCACATTCATTTGCAAGTTGTCCACGGCCACTTTGGTGCTACTGTGGCAGAATTGAGTAGTTGCTGCAGAGACCGTATGATGAGAATATGTGGC
ATTCTCATCATTTTGCCCTGCCGCTCTGTGCAATGTAAATTGCAGTGACACAGTTATAACTCAGCAGCATTTTGAATGCCACTTGTATTCCCATGCTACAACATTTTATTTTTTATTACCAATATATA
CAAGAAAAGTGGATTTCAAATATCATTGTGCTTTTAAGGTACAATGGAGTATGAATTGTTACTGAATTAGGCAGCAAAGTGCAATGACATGGTAGCTGTCCTAAGGAACACAATACAACCAGGTGCAG
TGGCTCATGCCTGTAATCCCAACGATTTGGGTGGCTGAGGTGGGAGAATCACTTGAACCCAGGATTTGGAGACCAGCTTGGGTGGTATAGTGAGACCCCCCATCTCCACAAAAAGTAAAAAAAAACCA
AAATACATGTTGTTACTTCCCATCTTAGCACTCATCAAGATATTTCTAATTCACAAGAAAGCAATGGTCAGAAAAATTAGAAAATTTAAAATTGAATATCTCATCACAGAATTTATTCACAAAAATAA
AAAATGAAAATGAAGCTACAACCAAAGTAAGTTTCAGATGGCTCATTTGTTAGCCAAGCAAGGAAAGTCACTTATGGTGAATTAATTAAATCATGCTTGATTACTGCAGCTGAAGAAACATGCTCAGA
GAAAGTAAACTTGTTTATTGGCCTTTCCACGACAACAGTTGCTCAAAGAGTTGACATTAGGAATGACATCAGTAGTCGACTAAAAAGGCAAATGGTTTTGAGTGGTTTCCCCTGACTCTCATGACAGG
GGTCACCATATGTTATGCACACTGCTCCGCTATTGCTCTTTATTTGAGGAGCCAGTACCAAGTTGGAAGTAACTGAAGAATTGGCCTCTATCAATAGTCTTATGTGGAACAACTACTGGCAAAAGTAT
TTTCAAAGCTGAGAAAACTGGTCAGGTGTGGCGGCTCATGCCTATAGTCCCAACACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGTGAAACT
ACATCTCTACTAAAAGTACAAAAATTAGCCGGGCATGATGGCATGCACTGGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATT
GCACCACTGTACTCCAGCCTGGATGACAGAGTGAGAACATTGTCTCAAAACAAAAAGTTGAGAAAACGAATTCAGTACACCCTGAAGTGGAATCTGCTAAGATGTGTTATGACTGTTGGTAGTGGAAA
TATATGTGTGTATTAGTCCATTTTCATACTGCTATAAAGAAAAGCCTGAGACTGGGTAATTTATAAAGAAAAAGAGGTTTAATGGACTCACAGTCCCGCATGGTTGGGGAGGCCTCACAATCGTTGTG
GAAGGTAAAGGAGAAGCCAAGGCAAGTCTTAGGTGGCGGCAAGCAAGAGAGTGTGTGCAGGGGAACTGCCCTTTATAAAACCATCAGATCTCATGAGACTTACTCACTATTATGAGAACAGCATGGTA
AAATCCTGCCTCCATGATTCAGTTACCTCCCACTGGGTCCTACCCATGACACGTGGGGATTATGGGGGCTACAATTCAATGAGATTTGGGTGGGGACACAGCTAACTCATATCAGTGTGGAATAGAAA
ATGGCTCAGTTGGACAACTTACAAAGCTTGTAATAATATAAGGTGTTAAAGCCTATAGATTATTCATTGTATTATTTAAGTCAACAGATACTTTGTGAGAAATATTTGAATCTATCATGCATTATTGA
ACCAGTATTGTCAATAGTGAACTTCCTTTAGCTCTTGTGGACTTCACTATCAACAGCTCTCATGAATTTTTGTCAGAAATATTAGCTGAATATCCCGACATGGCCTGTAATACAGCAGTTCAATGGTT
TAGTAGTGGTAAAGTTTCATTTAAGTTTTGAGCTCAGGACAAAGATTGAAATTTTTCTGAATGAGAACTGCCCCGAACCACCGTTACTAAACACTGAATAGTTTTGGAAATTCACTTTTGCTGCAGAC
TTGATAGTGTTTCTTAAGGAATTCAGCCTAAACCACAAGATAAAAACAGTGTTTATGTGAAACTCCTACTGTGTTAAGTGATTTCAAGAAGAACTATTGTTTGAATCACAACTAATGTTACTGCTTTA
AGCTCTTCCCATGTTGTTAAAAGTTAAAAAAAGAAGAGCTCCATTCCCACACACATTTGCCACAGATACATTATCTGAGCCCAAACTACAGTTTGAGCAGTGTGTTAGGGACCTCAATGCAAACCCAA
AAGAAATTTTTATATTTCAGAATCCATTGATCTGCATTTGAGAAGTGATTAATGTGTTGAAAGGCAACTATCTAAAGAAAAATTTAATAGAGTCTAATAGAATCTTATAAAAATGTATAAATGTGTTT
TATGTAATAAATATGCTAAGCTAAA

hide sequence

RefSeq Acc Id:

NM_001347723 ⟹ NP_001334652

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	37,366,773 - 37,526,358 (+)	NCBI
T2T-CHM13v2.0	21	35,749,088 - 35,908,739 (+)	NCBI

Sequence:

show sequence

GACCGGGTCGGTCCGTCGCCATTTTGTTGGTTGGTTTTTTTTTAAACCCTTTCGCTTCCCGCCC
GAATAATAATAAAAAGCCCCATTGGAGTGAGGCGGGGGTGGCGGCGGCAACCGCGGCGGGGGTATCCGGGGAGACTGCTGCTGTCGCTGCTGCTGATCGCGGCCCAGGTCGGCCTCAGAGAGCGGACA
CCCCGAGCGGGGGGTGCGGGCGCCGCCGCCGCCGCTTCTGCTGCTGCTGTTCCTGCTGCTGCTGTTGGTGCCGCTGCCGCCGCCGGCGAGCAGGCGGGACCGGTGTGAGTGCGAGTGTGTGTGCGAGG
GAGCGTGTGCGAGGGCGATTGTGCGCGCGAGTGTGCGGGTGTGTGCGAGTGTCTGTCTGTCTGTGCGGGGACTCGGGGGCGGGCGGTTCGGGCTCTCCTGGCGGAGGAGCCGCCGCCGCCGCCCGGGC
CCCGGCGCTTCTCGCTGCGCAGGTTCGGAGCGCGCGCCATTTTGTGAGATTTACAAAATCCTCCTCGGGAAGAAGCCGCCGGCAGCAGCCGCCGCTCGGCGCCCGGCCTCGCCGACGCCGCCCTCTGC
GCCGGGCCGGCCGTGCGGCCCCGCCGCCTGGAATCGGGGCCCGGGGACTGCGGTATTTGCCGGGGAGGGGGCTGTCGCCTCCCCGGCCCCGGGCGCCGCTGGAACCGCGAGCCGAGGAGAGACTGAGC
AGGCTGCGGCGCGGCCAGGAGCCGGAGCGCCGGGGGCGGAGAGAGGCTGCCGGGGCGGCGCTGGCTGCGGAGGCCGCGGCGGGAGCGCGGCGCGGGAGCCCGAGGCTGAGACTCACCGGAGGAAGCGG
CGCGAGCGCCCCGCCATCGTCCCGGAGGAGAGACTTCAGCATGCAAACCTTCATCTGTTCGGCTTGCACCGTCATTTTCATTCCATGCTGCTGGCCTTCAGATGGCTGGACAGATGCCCCATTCACAT
CAGTACAGTGACCGTCGCCAGCCAAACATAAGTGACCAACAGGTTTCTGCCTTATCATATTCTGACCAGATTCAGCAACCTCTAACTAACCAGAGGCGGATGCCCCAAACCTTCCGTGACCCAGCAAC
TGCTCCCCTGAGAAAACTTTCTGTTGACTTGATCAAAACATACAAGCATATTAATGAGGTTTACTATGCAAAAAAGAAGCGAAGACACCAACAGGGCCAGGGAGACGATTCTAGTCATAAGAAGGAAC
GGAAGGTTTACAATGATGGTTATGATGATGATAACTATGATTATATTGTAAAAAACGGAGAAAAGTGGATGGATCGTTACGAAATTGACTCCTTGATAGGCAAAGGTTCCTTTGGACAGGTTGTAAAG
GCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTAAAATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGAAATGAA
ATACTACATAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACC
TAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATC
AAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGATATACCAGTATATTCAGAGTCGCTTTTATCGGTCTCCAGAGGTGCTACTGGGAATGCCTTATGACCTTGCCATTGATATGTGGTC
CCTCGGGTGTATTTTGGTTGAAATGCACACTGGAGAACCTCTGTTCAGTGGTGCCAATGAGGTAGATCAGATGAATAAAATAGTGGAAGTTCTGGGTATTCCACCTGCTCATATTCTTGACCAAGCAC
CAAAAGCAAGAAAGTTCTTTGAGAAGTTGCCAGATGGCACTTGGAACTTAAAGAAGACCAAAGATGGAAAACGGGAGTACAAACCACCAGGAACCCGTAAACTTCATAACATTCTTGGAGTGGAAACA
GGAGGACCTGGTGGGCGACGTGCTGGGGAGTCAGGTCATACGGTCGCTGACTACTTGAAGTTCAAAGACCTCATTTTAAGGATGCTTGATTATGACCCCAAAACTCGAATTCAACCTTATTATGCTCT
GCAGCACAGTTTCTTCAAGAAAACAGCTGATGAAGGTACAAATACAAGTAATAGTGTATCTACAAGCCCCGCCATGGAGCAGTCTCAGTCTTCGGGCACCACCTCCAGTACATCGTCAAGCTCAGGTG
GCTCATCGGGGACAAGCAACAGTGGGAGAGCCCGGTCGGATCCGACGCACCAGCATCGGCACAGTGGTGGGCACTTCACAGCTGCCGTGCAGGCCATGGACTGCGAGACACACAGTCCCCAGGTGCGT
CAGCAATTTCCTGCTCCTCTTGGTTGGTCAGGCACTGAAGCTCCTACACAGGTCACTGTTGAAACTCATCCTGTTCAAGAAACAACCTTTCATGTAGCCCCTCAACAGAATGCATTGCATCATCACCA
TGGTAACAGTTCCCATCACCATCACCACCACCACCACCATCACCACCACCATGGACAACAAGCCTTGGGTAACCGGACCAGGCCAAGGGTCTACAATTCTCCAACGAATAGCTCCTCTACCCAAGATT
CTATGGAGGTTGGCCACAGTCACCACTCCATGACATCCCTGTCTTCCTCAACGACTTCTTCCTCGACATCTTCCTCCTCTACTGGTAACCAAGGCAATCAGGCCTACCAGAATCGCCCAGTGGCTGCT
AATACCTTGGACTTTGGACAGAATGGAGCTATGGACGTTAATTTGACCGTCTACTCCAATCCCCGCCAAGAGACTGGCATAGCTGGACATCCAACATACCAATTTTCTGCTAATACAGGTCCTGCACA
TTACATGACTGAAGGACATCTGACAATGAGGCAAGGGGCTGATAGAGAAGAGTCCCCCATGACAGGAGTTTGTGTGCAACAGAGTCCTGTAGCTAGCTCGTGACTACATTGAAACTTGAGTTTGTTTC
TTGTGTGTTTTTATAGAAGTGGTGTTTTTTTTCCAAAAACAAAGTGCAAAGCTGCTTGAATCAGGAGGAGATTAACACACTGAACCGCTACAAGAGGGCAAAGCTGATTTTTTTTTTAACTTGAAAAG
ATTGCAAAGGGACATTGAAGTGTTTAAAAGAGCCATGTCCAAACCCATCTTCATGGATAGCTCAGAGGTATCCTCTTTTTGCTCCCCCATTTTAACTTGCCACATCCCAGTCACAGTGGGGTTTTTTT
GTCTTTCTATTCAGCAAAAGTTAATATTCAGATGTTGGTCTTGGTCATTTGCCAACTAATTTTAAAGTAAAAGGCACTGCACATAATTTGCATAAAGGGCCCCATGAGGGTGTTTTTTTTTTTTCTTT
TTGTCCCCCCCATCCCCCTTTTTTTTTGTTTTGTTCTGTTTTGTTTTGGGTGGGAGGGTGGGAAATTTGGGTTTTTAAGTCCTCTAAACACACTTGGGCACGGAAATGCAGTACTGTAAGGAAGAGGG
ACCTCCAGCTTCCACAAACACCATCTTCAGCTGTATGAAAGGGACGGTTGTGGTGAAGTTTGTCAGGCACAGTAAGCATGCTGAGTGGCGGGGATCAGAACTCTCCTATCTGAACCTACTGAGGAGCA
AAGCAGCAATTACATGGGATCCTGTGGCTCTCCCGTTGCAGAGGCCACAGGAAGATAGGATGGAACGTGACTGGTCTCCTAACCAAGGTGCACTGAGAAGCAATCAACGGGTCGGTCGTGGCCAGTCC
TGGGGAGGTCTGAGTGGTGGTCTTTGGGATAACCTTTGGCCTTATGGATTTGGACTCGAAATTAGAAGAGCCTACCATTTCAGATGCAATCACTTTTGGACATGCTTTTGCAGACAGTCCTTAATGCT
GAAAACACAGAGAATGGGTAATTCAAGAGGCCTTTCTTTTAAAATAGACTTTTGTGACCCACTAATTGTAAGGTATTGCAAGGTCACTTTGCGTGTGTCATAAAGTTGACTTCCTTATTGGTTGAAGG
TCACAGAAGTAGTGGTTTGCTTTGATGGAAATAGCTACAGCTGTGTCCCTTCCTGCTTTTTACTTTTTCTTTTGCTTTTTCTCGGCACGTGGTATCTCCACCATTTCTTCTGCACAAAGATGTCTTCT
GTTCATCCTGAACATTTTTAAAAAATGCAGAATTTTATGTGACTGCTTTTTTGCCTCACAATTATGCTGTGAATTTTACAAAAATTTATTTTCTTTTTTGATAATTTATTGTACCAAAGCTGTTTTTA
TAGCACATAGATGTCTGTAACCAATAATGTAGCAGTTCTGCACTTTGACACAAGGTGTAACTAGACCATTTTTAAATGTCAGTTGAAAATTATGGCTGTACTATTGCTTAAACAAAACTGGAACTGTT
GTTGAATCCATAGCCAATACATTTACAGCAATCTGTGTACTGAACATAGTAGATTGACATCTAATTCAAGATTACAACATCTGTTACATTCTAAGTGTGTTCAGGCTTCTGAAGGTAAAGGGACACTG
GATCCAGAAGCTATGGAACCAGCAGTTGATTCTTGTATTCCTGATTAACCTACTTGTAAACTTGAAAGCAAGACCTTGATTGCACCAACAGGTCCAGAGTATGAGTGCAAGCAAAGCAGAACTCTCAT
GCGTGACCTGAGCAGACAGGCTGGTATTTAACAGGTGCCTCGTGTTGAGATTACGCTGCCTTAATGTAACACAGTCTGGCAGTTGCTAAATTTGTGTTCCCATTTTAAATTGACCAATTTTGGGGTGT
GACACTTTTGAGCGGTTGAATTGGGAGAATGAAGATAAGTAATTTACCTGTCCAGGATCAAAAGAAGCCTAGAAAAGAAGCAGTAATCTACCTCTGCCGATAACCTGTTTAAGATGACTCAGCAGAAC
ACCGCGTTTCATTCTATTGGTCAATTCCATGTGGCTGACTAGGTCAATTTTTTTTCTGAACAAAAGCAGGTTTTTATATGTAAACAGTGAGAAAAGAAAGGCTAAACACTATGTAAATGTGAATGGAA
ACTTGGAAATACTCGTTTTTATAAACTACAAAAACTTTTTGTTGTTTATCAGGAAATCCATATTTATTTTGTAATTAACTGTCAAGCCTGTGGATGATTTTTTTGAACTTGGTAGTTCATAAAGGTTT
ACAGTGAATAAAAGGATATCATCTTGAGTATAGCAATATCAAAAGGAATTCAGTAGTTACTGCTGTTTAGGAATATAAGGTTAAGATATCATATGGGTCAGGTCATTTTTTTTTTCTGTGCTGGTTGC
CACATCTTAGCAAGCACCAAAAAACTAAAGCAGTTTTTAAACCGATATTTACGTAAAGAAAATCATAAAATCCAATGCTTCTGCATACTGTGTTATGTTACAGTCCAGTTTTGTGTGCTTTACTACAC
AGTTTGGTTACAGGACTTCTGTGCATTGTAAACATAAACAGCATGGAAAAGGTTAAATACCTGTGTTCAGATTGTAAGATCTAGTCCGGACTTGCTGTGTATATTGTAACGTTAAATGAAAAAAGAAC
CCCCCTTTGTATTATAGTCATGCGGTCTTATGTATGATAAACAGTTGAATAATTTGTCCTCAGACTCTTTACTATGCTTTTTTAAAAATTAATTTAAGAAAAATGTAAACATAGTAAAAATCTTCCTA
TGCAATTAAACTGGTCCAGGTCTGGTAGGTATAGTATCAAAGTTGAGTTAAATGTGTAAAAAGGAAACTATTTGAGATACATTGACATAGGCATCAGCAATCTCTGAAAGTAAAAATTGGAGGTTTAA
CAGATCATTTTGATTTTTCACATTGATTTTTTTATTTGAATGTTTACATAATTTTGTGATTCAAAATGCTCATATTTTAGTTGGTAGCATTTCGACTGGATGTGAGGGTCTGATGGTTTTCTCTGATA
TGCTTTGACGTGCTTGGATGAAGGAAGGAATACGAATACTCATTCTTCCTTCCCTAACTCCTCGTACGGGGCCATATCAGAATTCTAGAATTCTTGCCACTGTGATTCAATTGCTAACCTAAAGTCTT
CTCTTTTTACAAATTCACCTGCTTCAGTATATATTAAGGTGGCTTTCGAGAGGCAAGATGCTTATTTAAAAGTTAAGCGTGAATCTGTAAAATTAAGGTTGGTTGCGTAAAGTTGAAGTTAACCACAT
GTAAGAAAGGAAAACTTCCATTAGTTTTCTTCTTAGGGTGTGAGAATTTTACCTAGGCACATGGATATTGGGCTGAAAAAAAAAAACCGACATTTTTATTTAAAACTACATGTAAAAAATCATGAAAG
ATTCAGTAATTATGTTAGGCTCACAAGTGACCATTGAGTTTGCCCCTGTACTGCTTCCCAGCTTTTGTGGTGTTGAACTTTTCTGTTCTTCCAATAGGGAGATACATAATCAAAATACACACGAAGAC
GAGATAGCAGGCACTCAGTTCTAGGCCAGTTTCTCAGTTTCCTTTGGGCCTGCCTTTATTTTGATAGTCGCAGAATGCAGGTTCAGATGCGATCCGGTGCATTCTGGGTGGTATCCCCATAGACAGAA
TACAAGTTCAAGACTCATTTTTATGTCCATTTTTATAGTGGTAGACTGTATGTAATAGACCAGATGGTTCATTCCAAATACATGACTTGGTCTTACTGCTATATATGAAGGAAGTTTGAAAATGTAAT
GGGGACAAAAGCCGTGCGTGACTTCGGTATACCCAGACTTCATTCAGATTTCTTAAAAATCTGCTAGGGATGTCTGTTGACCAGACGTTGGAAAACCTTTGGTGTCAGGGAGAGTAGAGGAGAAGTTC
TGATTTTCATAACCCTGGTTTCTTATCTAGGCCTGTTTCCTTGCGTGAAAACATACATCACCAAGTAATTTGTAGTACAAAGAACAAGAGAAGAAACCCTAAGAAGATAGCTTATTTGTTATCCTCCC
TTTTAATGACTAACCTTAATCCAAATGAATCCACTGAGAACCAGCCTGTGGATGCCTACTGGGCTTTCACCCTGGACCAGGAATTTTTGACGTATGCCTGTGTTGAAGGCACTGGATGCTTGTTTTGT
GGAAGACATGTTCATTGAGGTAAGTGGCTCATCGCTTGGTGTGTTTGGCTCTCTTTGGCATTATGCATAGCCAAGGTCCCAGATTTTGGCTGCTCTCAGTGGGTGTTCTTGCATCAGAACTTTAAAAA
AAATAACACTACCTTAACACTGAGACTGTCAGGTATTTGTCAGTATTTATTTCTAATTTCCTACTTTAAATCTTAGGAGACAAAGTGTTTCTCCAACTGGACGCTGATTTGAAACACAACTAGAATGC
TACAGGTCTCTCTTCCAGTATGCAGCTGCTGTACCTGAAAATTTTTCCCCATAATTTCCCATCTTTAGGGTATGTCCCTGTTATCAGGTGTGGAATTAATGTGGGTAAATTTCCATTTCAGTTGAATT
TCCTGTCATCCCCAGCAAAACCTGTGAATCCTTCTTCAAAGCATAGAGGAGGCAGAGACAAGTCTTAAACCGGCTTCCCTTCGCTTTTACCAGGTAGCCTGGTTCAGTCCCAGCTGGGTCCTGAAGGA
GCACAGTACTAGAGCCTGAGTCATGTTGACTATTAATAAAGTGCATTAAGTTTGGGTCAGGCAAAGTGGTGGCAAAAGTTCATGATGCAGGACAGAGGAAACAAGTGGACAAGACAAGTGGAGCCCAG
CTCTGTTCGCATGGGAGGCCGGGCGATGCTGGCATGGGTGTGGTTGGCCGAGTTCTCATAGCTAGAGAAAGGCCGTGTAGGTATAAGTGCTTAATGTTTCATCTGTCTGAAAGACCAGCTATTTGATA
ATCTTCCCGATTAAATTTCTAAAATTGCTACTTTGGGAATTTTTTTCTTTATTCTTGTAAAGTTTTGCTTCCATTATATACTCATTCATTAGTCAGTGTACTTGCCCCTGAATTCCATATCTGAAACT
GCAGTCACGGGAGATTCAGAGCCAAGGGCAAAATAAAGTGGCAGGCACTGGGTGTGTGTGGTAGTTCTGCACTAGGGTGGCCAGGAAGCAGCCAAGCAGGTGTGCCGGGCAGGGAGTTGTTAATGAAC
ACCCAGGCAAGAGGACGGGCCTGAGCCTGAGTGTGGCCAGCAGAAAGTGTTGAGTTGCTTAAAAGAGACCCTGGGAGGATGAATTTGGAATCATCATCCACTCACTGTTGGACAGAAAGACTGCAGAG
AAGGGCACTGCTGGGGTGGGGTTTGTTAACTCCCTCTGAAATGAAAGAAAATACCTCTAGTGGCATGAAACGGCTAAGTTTTTTTTAATGTTACTTCTTTAATTTTAGAGACGGTGTCTGGCTTTGTC
ACGCAAGCTGGAGTTTGGTGGTGTGATTGCAGCTCACTGCAGCCTTAAACAACTGGGCTAGGTGATCCTCCCATCTCAGCCTCCCAAGTAGCTGGGACTACCTGTGCACACCACCATGCCTGGCTGTT
TTTAATACGGGGTTTTGCTGAGTTGCTCAGGCGCTCCTCAAACTGCTGGCCTCAAGTGATCCTCCAGCCTGGGCCTCTCAAACATAAATAGGCTGGGCGTGGTGGCTCACGTCTGTAAAGATTTAAAG
CGGAAAAGCGGAATGCAGTGAAATAGCATGAGAAAGAGCGTTTTTATGTACATCACAGACAAGCCTTGTTCTGCTGAAGAGGTGATGCCACGAGGTGGGGAGGAGCTCACTTCAGGCACCACTCCCAC
TTCCATTGCCCGCAAATCCAGGAAAGAAATGACTAATGAACTCTAGTGATCGCAAACTGCTCAATCGGTACTCATCAATTTAAAATGACTGTCCAGCCTTGCTGCACACTAAACTCATCTGTAGAACT
TTATAAAACCACGGATGACCATCACACTAGCAGGATTTTAGATTCAGAGTTGGGGTGGGGCCTGGAGCTCTGTTTTCTGAAACTTTGCGGGCCATTCTGAACCTGCAGCCAGGCAGGACTCTGGCAAG
AAGAGGCGTGTGGCTAATATGACGGAAGTCTGAATCCAAGGACTTTTTTTTTTTTTTTTTTTGGAGACAGTCTTGCTTTGTCTCCCAGGTTGGTGTGCAGGGGTGTGATCTCGGCTCACTGCAACCTC
CATTTCCCAGATTCAAGCGATTCTCGTGCCTCAGCCTTTCAAGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATAGTATTTTTGATAGAGAGGGGGTTTCGCAATGTTGGCCAGGCTGG
TCTTGAACTCCCGACTTCAAGCTATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACTTCACCCAGCCCCAAGAACATCTTGAAATGGAGTTTGATTACCAAAGTTTACATA
GAGTAATGGATAATTAAAATTTTCAATTTATGGTGCATTACAAAATGTTATAAACAAGCCTCCGGGAAAGGCAGAAATTGCCAGATGTAAGTATATAAAACTTACACAGTTTGTTCCTTTTTGTTGTC
TTCCCTTGTGGAGATGGGTCAGTGTAACATCCTATTCATTAATAGCTCTCAGATGTCCCATGAGAATGGCACATGTTATTTCCCAACAGTGGGAATGGAATTAGTTCCTTTATATCTCAGTCTCATCT
GGTCTTGTAAGCCGGTGAAGGGTTTCCCAGGGCACCAGCCACCAGCTCTGTATAGTAGTTACAGTTTCCCTCTCTAGAATCCCAAAGAGGTTCAGATCCCACTGCTCCTCTCATTGGCTTCGTGACCC
TGGGTACGCTGCTCAACTTGCGCAAGGATTACTGTCCGCTTTGTACAATGGAGATACCTATAGTGTCCACTTAGGAGATGCTGTGCATGCCTCAGTGAGGTAATGTCCGCAGAAAGCACAATGCCTAG
TATGTAGAAAGTGTCCGATAAATATAATATGCGGCTAAACAGCGGAGTCCACAGCCTGAATGGAACTTCTTTTTCTACGTAAATACAGCAAACAATGCAGGGAAATGAGGTGGACAGTGTTCTCCGTG
GAGGGCTAAACAGCATTGCTTTCCAGCTGACTTTTATTTTTGGAGTCTGGGACTAGGTGTTAACATTCCTTTACTAGTTGGTTTTGCATACCGCACAGTCCCTGCATCTATTTAAGAGTTTTGAGGTT
TGTTGTGGGAAGTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCGCC
TGCCTCAGCCTCCAGAGTAGCTGGGACTACTGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGGCAGGATGGTCTCAGTCTCCTGACCTT
GTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGGGAGTTTTTCGGTAGTTTGCTTTGCCTTGATAAACTATATGATATTTAAATGTTTTATAAGGATGGGTTTTCAGTAGAA
TTTCTCTGTACAACCTCAGGGAGACTGCCTGGAGGAATAACTGTGGTAAGGGTCTGTTTTTGAACAGGCATGGTCATTAGACCCTTGTGATCACGCATCCAGGGGCCAGTCCCCACCCTTTGCTCCCA
CTCCAAGGAAAGTCTGTTACATTTTTAGCCTTCAGAGGTTTGATGTAGATAGGAAGAGATGAGGGTGACAGAAATCAGCTCTTAAGTTTATAAATAAAACAGGGATATTATCGGGGAAGCTTTTGAAA
TGTAATAGGTTGTAACCCACATTTTGAAAGCAGTAAGGAAATAATTGCTGCTTTTTTCTTCTTCTTTATTCTGTTGACTTTGTTGATAATATTAGGTGACTACATCGAGCCTGGGTTCTCTCAGTATT
AGCCTGTTATTCCTAAAGTATCATCCTCTCCTTGTATCAAATATAAGGACAAAAATGTCTTAGGATAAAAGTCTGTTTGTTTGCATTAGACTATACATGATTTGCATTACAATGGGCCGTGGATTTGG
ATGGATGATGAAGCTGAAACAAGGGACCTAATCATGGGATTTAACTGTTCACTTCAGGTAGATAAGATATTTCTGGGAGAAGTAAATTGGATGAGCTTTTGTGCTTCCCAGCAGCTCCAGGTCTTGTC
CCTGGCCAGTCTGGGCAGCTCTGCGCTCAGAGGCCTTTGGCACGATGGGTCCTCCCAGCAGGGGCTCCAGCGCTCACCGCTGGGTGAGATCTACAGGGCTCAGTGCGCTTGGAGTCCTGGATTCCTCC
AGGACTGCTACTGTATTCCAATTGAGTGGTGGTTTGCTCTTCACAGAGCGCTTACATGGGATTCTTACCTTCTGACTGGAGTGTCACCCTCGCCCAGGAATGTGGGTGCTGGAGAGACGGGCTACCTC
TTTCTGTAGGCGGATGTTTCTGAAGGCATCTCCCACTGATTATGTAATGACAGCTACTTAACATCTTCTGTAGTCTTGAAGAATTCAGATGAGGAGCTTGTCCAGGGAGGGCTCCCACGTGCGTATTC
ACTAATTGTGGTCTTTCTCCCCAGCTCGGTTTTGTTTGCGTATTAGAGTTCTGACCATCTTCACTAGAAGTGGGGGCGGCTAGCAGTGACTAGATGCAAGAAGCAAAACGGTAAATTTCCTTTTACTG
GCAAAATTAAAACAGTGAACTTGAAATATCTCCCCTACTCCCTGCAGAGACACTCTGAATCAAAGAAAACAATCAGTACTAACCCTGGAAACAATTTAAAAATGAACAAAAAGTCCTACCCTGAAGAA
GAAGAATGTCTTACCAGCAAACGGTCTTGGGACAGCTGGTGTGAGAACTATATAAGAGAAATCAACAAATATTAATTGAACACCAGTCATGTGCAAAGCACTTAGCTAGGTCTTAGGGATGAGGACAA
AAAGCATGTCACATTTTGTTGTTATAAGTGGGAAAGATAAGTAATTACAAGTAAGCCCAGTGTTTTTAAAAGAGTGTGAACAGAGACCTTATTCTAATCCAGAGAGGCTGTGAAGTGCTGTATTCCCA
AGGAACTGAAGTTCTAGCTGATACCTAATGGAGGAATGGGTGTTATCCTGGTGGGAATGCCCTAGAATCTAGGAGAAGACAACAGGCCATTCGAAGGTGAGGAGGCTTGCCAGCATCAGTTTATAAGT
GGACAGAGTCGAGAGCTATTTAGGAAGGAGAGCTGACAGACCTCGGGGACTGAATGGATGCTGGGAGTAGGGGTGAAAAGAGAGGAGTCAGGCTTCCTCCCAGAGTTTGAGGACTTTGAGTGCTAAGG
GCTTGTAGGAGAACGTTGTGGAGATGTCCGGTAGGCATCTGAAAGAATGGATGGAGGAGGGGAAAGTCGGGCCTGGGAATGGCCAATTTCTGGTCATTCTCATATAGGCAACTGATGGCGAAGGGGAT
GACCTAGAGGGAGTTGGGAGGACAGCCTAGGATACGTAAATAAGAGAATCTTGTATGTTCTAAAAATTAACATCATTGCAGCTTCCTCAGCCCTAGGATGGTTTTTAGATCTATCAAGGGATAGAAGA
TTGTCCAGCCCCTTGCTGCCCAGTGTAGTCAGTGGGCTGACGACATTAGCATCACCTGGGTGCTTGCTAGCAATGCAAAATCTCAGGCCCCAGCCCAGACCACTGGATGAGAATCTGCATTTGAACAA
GGTCCCCAGGTCATTCATGCACATTCAAAGTCAGAGACACTGCCCCAACACCTCACTTTAGAGTGAGAAAACTTAACAGGTTTAAGCAACTTGCAGAAGATGACACAACTGACCAGCGACAGTCTGTC
TTCTAGTCAGGCCTCTTTCCAGTTCTCCACGCTGACCTTGACTTTCGAGATCACATACCAAGACCTTCAGCTGGATGGTCCCTGTAGCTGCTGTGACCACTAGAAGCAGGGTTAGGGGCGAGACTAAT
TTAATATCAATTAATGTAGACACTAGGCTTAGGGCTAGGGAAAATGTAGTGAAGGATGCCTGTATTGTCCTAATGAACCACACTGGTGCCTACAAAATTTTTATTTTGGCAAAACCGTCCATGAATTT
GGAGATGTTGAACAGGTTTCTCTCCGACAATCGTCTCGTTTAATTGTGAAACTAGAATCACTTCCAGGAAGCTCTGAAGAATCAAGTCTGAGTGATGCAATGCTGCTTCCTCCTTCCTTCTCAAAAGC
CTGCTCTTTGCCCATTTCTCTGTTCCCAAGGTCATTTTCTCCCCTTCTTGTTTCCAGGATCCACAGTTCCTGCTCTGCTTCCGCTTTCCCCACTGCTGGTTCAGGCTGTCTGCAGCAGCAGCAGCTCC
AGGGTGCTGGGACACTGCTGGGTGACGCTCCACAGTGTGTGCTTCCCCATGTGGCTTCCACAGTCCCCTCTTGCTTCTCCCACATGTTAGTCTTCATAGATTAGTCTTCATCAATTCTTAGTATTATT
TTTTAGGGATAGGGTCTTGCTGTGTTGCCCAGGCTGCAGTGCAGTGGTATGATCTCTGCTTACTGCAGCCTCCACCTCTGGGACTCAGGCGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCAC
AGGCGCATGCCACTGTGCCTGGCTAAATTATTTTATATTTTGTAGAGTTGAGGTCGCACTTTTTTGCCCATGCTGGTCTTGAACCCCTGGGCTCAAGCGATCCTTCTGCCTCAGCCTCCCATTACGGG
CAGGAGCCACTGCACACAGCTGATGAATTTTCGTTTAGGCCCCTTTCTTTGTGAGAGGGGGCCCCAGGATTATGCCCCGGGATTAAAAGAAGCTGGGAGGCTCTCCAGGACCCTGAACAAAGGTGGAA
GTAGGGTTGTAAATGGAAGAAAAAATAAGAGAGATTCATTATGTTCTAATGACTATGAGGGAAGCTTTAGTTTTTGTCTCCCTGAAGCATCAACCTGCTTTCCTGCTGCTGTTATCACATCCTTCCAG
GGCTATCGGCTGTTCAGGAACAGGAGAGCTCTGGAAGAGCAGGGACGACTTTGGCTTCTGTTTCCTGCCCATTGCAGATTAGGCATCAGCAAGGTACCCTCCTGTTTTTGTATGGCTCACCAAACTAA
GGGTGATTTTCACATTTTACATGGCTGAAAAACATCAAATGATATTTCAGGACATAGGGAAATTATATGACATTTGAATTTCAGTGTCCATAAATGAAGTTTTATTGGAACATAACCACATTCATTTG
CAAGTTGTCCACGGCCACTTTGGTGCTACTGTGGCAGAATTGAGTAGTTGCTGCAGAGACCGTATGATGAGAATATGTGGCATTCTCATCATTTTGCCCTGCCGCTCTGTGCAATGTAAATTGCAGTG
ACACAGTTATAACTCAGCAGCATTTTGAATGCCACTTGTATTCCCATGCTACAACATTTTATTTTTTATTACCAATATATACAAGAAAAGTGGATTTCAAATATCATTGTGCTTTTAAGGTACAATGG
AGTATGAATTGTTACTGAATTAGGCAGCAAAGTGCAATGACATGGTAGCTGTCCTAAGGAACACAATACAACCAGGTGCAGTGGCTCATGCCTGTAATCCCAACGATTTGGGTGGCTGAGGTGGGAGA
ATCACTTGAACCCAGGATTTGGAGACCAGCTTGGGTGGTATAGTGAGACCCCCCATCTCCACAAAAAGTAAAAAAAAACCAAAATACATGTTGTTACTTCCCATCTTAGCACTCATCAAGATATTTCT
AATTCACAAGAAAGCAATGGTCAGAAAAATTAGAAAATTTAAAATTGAATATCTCATCACAGAATTTATTCACAAAAATAAAAAATGAAAATGAAGCTACAACCAAAGTAAGTTTCAGATGGCTCATT
TGTTAGCCAAGCAAGGAAAGTCACTTATGGTGAATTAATTAAATCATGCTTGATTACTGCAGCTGAAGAAACATGCTCAGAGAAAGTAAACTTGTTTATTGGCCTTTCCACGACAACAGTTGCTCAAA
GAGTTGACATTAGGAATGACATCAGTAGTCGACTAAAAAGGCAAATGGTTTTGAGTGGTTTCCCCTGACTCTCATGACAGGGGTCACCATATGTTATGCACACTGCTCCGCTATTGCTCTTTATTTGA
GGAGCCAGTACCAAGTTGGAAGTAACTGAAGAATTGGCCTCTATCAATAGTCTTATGTGGAACAACTACTGGCAAAAGTATTTTCAAAGCTGAGAAAACTGGTCAGGTGTGGCGGCTCATGCCTATAG
TCCCAACACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGTGAAACTACATCTCTACTAAAAGTACAAAAATTAGCCGGGCATGATGGCATGCA
CTGGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCACCACTGTACTCCAGCCTGGATGACAGAGTGAGAACATTGTCTCA
AAACAAAAAGTTGAGAAAACGAATTCAGTACACCCTGAAGTGGAATCTGCTAAGATGTGTTATGACTGTTGGTAGTGGAAATATATGTGTGTATTAGTCCATTTTCATACTGCTATAAAGAAAAGCCT
GAGACTGGGTAATTTATAAAGAAAAAGAGGTTTAATGGACTCACAGTCCCGCATGGTTGGGGAGGCCTCACAATCGTTGTGGAAGGTAAAGGAGAAGCCAAGGCAAGTCTTAGGTGGCGGCAAGCAAG
AGAGTGTGTGCAGGGGAACTGCCCTTTATAAAACCATCAGATCTCATGAGACTTACTCACTATTATGAGAACAGCATGGTAAAATCCTGCCTCCATGATTCAGTTACCTCCCACTGGGTCCTACCCAT
GACACGTGGGGATTATGGGGGCTACAATTCAATGAGATTTGGGTGGGGACACAGCTAACTCATATCAGTGTGGAATAGAAAATGGCTCAGTTGGACAACTTACAAAGCTTGTAATAATATAAGGTGTT
AAAGCCTATAGATTATTCATTGTATTATTTAAGTCAACAGATACTTTGTGAGAAATATTTGAATCTATCATGCATTATTGAACCAGTATTGTCAATAGTGAACTTCCTTTAGCTCTTGTGGACTTCAC
TATCAACAGCTCTCATGAATTTTTGTCAGAAATATTAGCTGAATATCCCGACATGGCCTGTAATACAGCAGTTCAATGGTTTAGTAGTGGTAAAGTTTCATTTAAGTTTTGAGCTCAGGACAAAGATT
GAAATTTTTCTGAATGAGAACTGCCCCGAACCACCGTTACTAAACACTGAATAGTTTTGGAAATTCACTTTTGCTGCAGACTTGATAGTGTTTCTTAAGGAATTCAGCCTAAACCACAAGATAAAAAC
AGTGTTTATGTGAAACTCCTACTGTGTTAAGTGATTTCAAGAAGAACTATTGTTTGAATCACAACTAATGTTACTGCTTTAAGCTCTTCCCATGTTGTTAAAAGTTAAAAAAAGAAGAGCTCCATTCC
CACACACATTTGCCACAGATACATTATCTGAGCCCAAACTACAGTTTGAGCAGTGTGTTAGGGACCTCAATGCAAACCCAAAAGAAATTTTTATATTTCAGAATCCATTGATCTGCATTTGAGAAGTG
ATTAATGTGTTGAAAGGCAACTATCTAAAGAAAAATTTAATAGAGTCTAATAGAATCTTATAAAAATGTATAAATGTGTTTTATGTAATAAATATGCTAAGCTAAA

hide sequence

RefSeq Acc Id:

NM_001396 ⟹ NP_001387

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	37,365,573 - 37,526,358 (+)	NCBI
GRCh37	21	38,739,859 - 38,887,679 (+)	ENTREZGENE
Build 36	21	37,714,472 - 37,809,549 (+)	NCBI Archive
HuRef	21	24,215,875 - 24,363,782 (+)	ENTREZGENE
CHM1_1	21	38,353,756 - 38,448,854 (+)	NCBI
T2T-CHM13v2.0	21	35,747,888 - 35,908,739 (+)	NCBI

Sequence:

show sequence

ATACTTGGGTTTTCAAGCCTCGGGAGCTCACCCAGCAATACATAGCTAGGGAGAAGGGGTAGGGAGAATAAAAATCAGCGAAAGCCAGGATATTAATAAAGAGTTTTGATGGTTAAGGACAAGCAGGC
GAATTAAGACTCTGGAAACCGAGAAGGTGTATAGAAAAGAAAACCAGAGAGCTGGACGACAAGGACACAGTAACAGCACAAGGGGATTCATCTAAAGGGCATTCCGATGGAGCAGGCAGGCTGCGCCC
CGAAAGTGTTATAGTTTTGCCGCTGGACTCTTCCCTCCCTTCCCCCACCCCATCAGGATGATATGAGACTTGAAAGAAGACGATGCATACAGGAGGAGAGACTTCAGCATGCAAACCTTCATCTGTTC
GGCTTGCACCGTCATTTTCATTCCATGCTGCTGGCCTTCAGATGGCTGGACAGATGCCCCATTCACATCAGTACAGTGACCGTCGCCAGCCAAACATAAGTGACCAACAGGTTTCTGCCTTATCATAT
TCTGACCAGATTCAGCAACCTCTAACTAACCAGGTGATGCCTGATATTGTCATGTTACAGAGGCGGATGCCCCAAACCTTCCGTGACCCAGCAACTGCTCCCCTGAGAAAACTTTCTGTTGACTTGAT
CAAAACATACAAGCATATTAATGAGGTTTACTATGCAAAAAAGAAGCGAAGACACCAACAGGGCCAGGGAGACGATTCTAGTCATAAGAAGGAACGGAAGGTTTACAATGATGGTTATGATGATGATA
ACTATGATTATATTGTAAAAAACGGAGAAAAGTGGATGGATCGTTACGAAATTGACTCCTTGATAGGCAAAGGTTCCTTTGGACAGGTTGTAAAGGCATATGATCGTGTGGAGCAAGAATGGGTTGCC
ATTAAAATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGAAATGAAATACTACATAGTGCATTTGAAACGCCACTTTAT
GTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTG
CACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTG
GGGCAGAGGATATACCAGTATATTCAGAGTCGCTTTTATCGGTCTCCAGAGGTGCTACTGGGAATGCCTTATGACCTTGCCATTGATATGTGGTCCCTCGGGTGTATTTTGGTTGAAATGCACACTGG
AGAACCTCTGTTCAGTGGTGCCAATGAGGTAGATCAGATGAATAAAATAGTGGAAGTTCTGGGTATTCCACCTGCTCATATTCTTGACCAAGCACCAAAAGCAAGAAAGTTCTTTGAGAAGTTGCCAG
ATGGCACTTGGAACTTAAAGAAGACCAAAGATGGAAAACGGGAGTACAAACCACCAGGAACCCGTAAACTTCATAACATTCTTGGAGTGGAAACAGGAGGACCTGGTGGGCGACGTGCTGGGGAGTCA
GGTCATACGGTCGCTGACTACTTGAAGTTCAAAGACCTCATTTTAAGGATGCTTGATTATGACCCCAAAACTCGAATTCAACCTTATTATGCTCTGCAGCACAGTTTCTTCAAGAAAACAGCTGATGA
AGGTACAAATACAAGTAATAGTGTATCTACAAGCCCCGCCATGGAGCAGTCTCAGTCTTCGGGCACCACCTCCAGTACATCGTCAAGCTCAGGTGGCTCATCGGGGACAAGCAACAGTGGGAGAGCCC
GGTCGGATCCGACGCACCAGCATCGGCACAGTGGTGGGCACTTCACAGCTGCCGTGCAGGCCATGGACTGCGAGACACACAGTCCCCAGGTGCGTCAGCAATTTCCTGCTCCTCTTGGTTGGTCAGGC
ACTGAAGCTCCTACACAGGTCACTGTTGAAACTCATCCTGTTCAAGAAACAACCTTTCATGTAGCCCCTCAACAGAATGCATTGCATCATCACCATGGTAACAGTTCCCATCACCATCACCACCACCA
CCACCATCACCACCACCATGGACAACAAGCCTTGGGTAACCGGACCAGGCCAAGGGTCTACAATTCTCCAACGAATAGCTCCTCTACCCAAGATTCTATGGAGGTTGGCCACAGTCACCACTCCATGA
CATCCCTGTCTTCCTCAACGACTTCTTCCTCGACATCTTCCTCCTCTACTGGTAACCAAGGCAATCAGGCCTACCAGAATCGCCCAGTGGCTGCTAATACCTTGGACTTTGGACAGAATGGAGCTATG
GACGTTAATTTGACCGTCTACTCCAATCCCCGCCAAGAGACTGGCATAGCTGGACATCCAACATACCAATTTTCTGCTAATACAGGTCCTGCACATTACATGACTGAAGGACATCTGACAATGAGGCA
AGGGGCTGATAGAGAAGAGTCCCCCATGACAGGAGTTTGTGTGCAACAGAGTCCTGTAGCTAGCTCGTGACTACATTGAAACTTGAGTTTGTTTCTTGTGTGTTTTTATAGAAGTGGTGTTTTTTTTC
CAAAAACAAAGTGCAAAGCTGCTTGAATCAGGAGGAGATTAACACACTGAACCGCTACAAGAGGGCAAAGCTGATTTTTTTTTTAACTTGAAAAGATTGCAAAGGGACATTGAAGTGTTTAAAAGAGC
CATGTCCAAACCCATCTTCATGGATAGCTCAGAGGTATCCTCTTTTTGCTCCCCCATTTTAACTTGCCACATCCCAGTCACAGTGGGGTTTTTTTGTCTTTCTATTCAGCAAAAGTTAATATTCAGAT
GTTGGTCTTGGTCATTTGCCAACTAATTTTAAAGTAAAAGGCACTGCACATAATTTGCATAAAGGGCCCCATGAGGGTGTTTTTTTTTTTTCTTTTTGTCCCCCCCATCCCCCTTTTTTTTTGTTTTG
TTCTGTTTTGTTTTGGGTGGGAGGGTGGGAAATTTGGGTTTTTAAGTCCTCTAAACACACTTGGGCACGGAAATGCAGTACTGTAAGGAAGAGGGACCTCCAGCTTCCACAAACACCATCTTCAGCTG
TATGAAAGGGACGGTTGTGGTGAAGTTTGTCAGGCACAGTAAGCATGCTGAGTGGCGGGGATCAGAACTCTCCTATCTGAACCTACTGAGGAGCAAAGCAGCAATTACATGGGATCCTGTGGCTCTCC
CGTTGCAGAGGCCACAGGAAGATAGGATGGAACGTGACTGGTCTCCTAACCAAGGTGCACTGAGAAGCAATCAACGGGTCGGTCGTGGCCAGTCCTGGGGAGGTCTGAGTGGTGGTCTTTGGGATAAC
CTTTGGCCTTATGGATTTGGACTCGAAATTAGAAGAGCCTACCATTTCAGATGCAATCACTTTTGGACATGCTTTTGCAGACAGTCCTTAATGCTGAAAACACAGAGAATGGGTAATTCAAGAGGCCT
TTCTTTTAAAATAGACTTTTGTGACCCACTAATTGTAAGGTATTGCAAGGTCACTTTGCGTGTGTCATAAAGTTGACTTCCTTATTGGTTGAAGGTCACAGAAGTAGTGGTTTGCTTTGATGGAAATA
GCTACAGCTGTGTCCCTTCCTGCTTTTTACTTTTTCTTTTGCTTTTTCTCGGCACGTGGTATCTCCACCATTTCTTCTGCACAAAGATGTCTTCTGTTCATCCTGAACATTTTTAAAAAATGCAGAAT
TTTATGTGACTGCTTTTTTGCCTCACAATTATGCTGTGAATTTTACAAAAATTTATTTTCTTTTTTGATAATTTATTGTACCAAAGCTGTTTTTATAGCACATAGATGTCTGTAACCAATAATGTAGC
AGTTCTGCACTTTGACACAAGGTGTAACTAGACCATTTTTAAATGTCAGTTGAAAATTATGGCTGTACTATTGCTTAAACAAAACTGGAACTGTTGTTGAATCCATAGCCAATACATTTACAGCAATC
TGTGTACTGAACATAGTAGATTGACATCTAATTCAAGATTACAACATCTGTTACATTCTAAGTGTGTTCAGGCTTCTGAAGGTAAAGGGACACTGGATCCAGAAGCTATGGAACCAGCAGTTGATTCT
TGTATTCCTGATTAACCTACTTGTAAACTTGAAAGCAAGACCTTGATTGCACCAACAGGTCCAGAGTATGAGTGCAAGCAAAGCAGAACTCTCATGCGTGACCTGAGCAGACAGGCTGGTATTTAACA
GGTGCCTCGTGTTGAGATTACGCTGCCTTAATGTAACACAGTCTGGCAGTTGCTAAATTTGTGTTCCCATTTTAAATTGACCAATTTTGGGGTGTGACACTTTTGAGCGGTTGAATTGGGAGAATGAA
GATAAGTAATTTACCTGTCCAGGATCAAAAGAAGCCTAGAAAAGAAGCAGTAATCTACCTCTGCCGATAACCTGTTTAAGATGACTCAGCAGAACACCGCGTTTCATTCTATTGGTCAATTCCATGTG
GCTGACTAGGTCAATTTTTTTTCTGAACAAAAGCAGGTTTTTATATGTAAACAGTGAGAAAAGAAAGGCTAAACACTATGTAAATGTGAATGGAAACTTGGAAATACTCGTTTTTATAAACTACAAAA
ACTTTTTGTTGTTTATCAGGAAATCCATATTTATTTTGTAATTAACTGTCAAGCCTGTGGATGATTTTTTTGAACTTGGTAGTTCATAAAGGTTTACAGTGAATAAAAGGATATCATCTTGAGTATAG
CAATATCAAAAGGAATTCAGTAGTTACTGCTGTTTAGGAATATAAGGTTAAGATATCATATGGGTCAGGTCATTTTTTTTTTCTGTGCTGGTTGCCACATCTTAGCAAGCACCAAAAAACTAAAGCAG
TTTTTAAACCGATATTTACGTAAAGAAAATCATAAAATCCAATGCTTCTGCATACTGTGTTATGTTACAGTCCAGTTTTGTGTGCTTTACTACACAGTTTGGTTACAGGACTTCTGTGCATTGTAAAC
ATAAACAGCATGGAAAAGGTTAAATACCTGTGTTCAGATTGTAAGATCTAGTCCGGACTTGCTGTGTATATTGTAACGTTAAATGAAAAAAGAACCCCCCTTTGTATTATAGTCATGCGGTCTTATGT
ATGATAAACAGTTGAATAATTTGTCCTCAGACTCTTTACTATGCTTTTTTAAAAATTAATTTAAGAAAAATGTAAACATAGTAAAAATCTTCCTATGCAATTAAACTGGTCCAGGTCTGGTAGGTATA
GTATCAAAGTTGAGTTAAATGTGTAAAAAGGAAACTATTTGAGATACATTGACATAGGCATCAGCAATCTCTGAAAGTAAAAATTGGAGGTTTAACAGATCATTTTGATTTTTCACATTGATTTTTTT
ATTTGAATGTTTACATAATTTTGTGATTCAAAATGCTCATATTTTAGTTGGTAGCATTTCGACTGGATGTGAGGGTCTGATGGTTTTCTCTGATATGCTTTGACGTGCTTGGATGAAGGAAGGAATAC
GAATACTCATTCTTCCTTCCCTAACTCCTCGTACGGGGCCATATCAGAATTCTAGAATTCTTGCCACTGTGATTCAATTGCTAACCTAAAGTCTTCTCTTTTTACAAATTCACCTGCTTCAGTATATA
TTAAGGTGGCTTTCGAGAGGCAAGATGCTTATTTAAAAGTTAAGCGTGAATCTGTAAAATTAAGGTTGGTTGCGTAAAGTTGAAGTTAACCACATGTAAGAAAGGAAAACTTCCATTAGTTTTCTTCT
TAGGGTGTGAGAATTTTACCTAGGCACATGGATATTGGGCTGAAAAAAAAAAACCGACATTTTTATTTAAAACTACATGTAAAAAATCATGAAAGATTCAGTAATTATGTTAGGCTCACAAGTGACCA
TTGAGTTTGCCCCTGTACTGCTTCCCAGCTTTTGTGGTGTTGAACTTTTCTGTTCTTCCAATAGGGAGATACATAATCAAAATACACACGAAGACGAGATAGCAGGCACTCAGTTCTAGGCCAGTTTC
TCAGTTTCCTTTGGGCCTGCCTTTATTTTGATAGTCGCAGAATGCAGGTTCAGATGCGATCCGGTGCATTCTGGGTGGTATCCCCATAGACAGAATACAAGTTCAAGACTCATTTTTATGTCCATTTT
TATAGTGGTAGACTGTATGTAATAGACCAGATGGTTCATTCCAAATACATGACTTGGTCTTACTGCTATATATGAAGGAAGTTTGAAAATGTAATGGGGACAAAAGCCGTGCGTGACTTCGGTATACC
CAGACTTCATTCAGATTTCTTAAAAATCTGCTAGGGATGTCTGTTGACCAGACGTTGGAAAACCTTTGGTGTCAGGGAGAGTAGAGGAGAAGTTCTGATTTTCATAACCCTGGTTTCTTATCTAGGCC
TGTTTCCTTGCGTGAAAACATACATCACCAAGTAATTTGTAGTACAAAGAACAAGAGAAGAAACCCTAAGAAGATAGCTTATTTGTTATCCTCCCTTTTAATGACTAACCTTAATCCAAATGAATCCA
CTGAGAACCAGCCTGTGGATGCCTACTGGGCTTTCACCCTGGACCAGGAATTTTTGACGTATGCCTGTGTTGAAGGCACTGGATGCTTGTTTTGTGGAAGACATGTTCATTGAGGTAAGTGGCTCATC
GCTTGGTGTGTTTGGCTCTCTTTGGCATTATGCATAGCCAAGGTCCCAGATTTTGGCTGCTCTCAGTGGGTGTTCTTGCATCAGAACTTTAAAAAAAATAACACTACCTTAACACTGAGACTGTCAGG
TATTTGTCAGTATTTATTTCTAATTTCCTACTTTAAATCTTAGGAGACAAAGTGTTTCTCCAACTGGACGCTGATTTGAAACACAACTAGAATGCTACAGGTCTCTCTTCCAGTATGCAGCTGCTGTA
CCTGAAAATTTTTCCCCATAATTTCCCATCTTTAGGGTATGTCCCTGTTATCAGGTGTGGAATTAATGTGGGTAAATTTCCATTTCAGTTGAATTTCCTGTCATCCCCAGCAAAACCTGTGAATCCTT
CTTCAAAGCATAGAGGAGGCAGAGACAAGTCTTAAACCGGCTTCCCTTCGCTTTTACCAGGTAGCCTGGTTCAGTCCCAGCTGGGTCCTGAAGGAGCACAGTACTAGAGCCTGAGTCATGTTGACTAT
TAATAAAGTGCATTAAGTTTGGGTCAGGCAAAGTGGTGGCAAAAGTTCATGATGCAGGACAGAGGAAACAAGTGGACAAGACAAGTGGAGCCCAGCTCTGTTCGCATGGGAGGCCGGGCGATGCTGGC
ATGGGTGTGGTTGGCCGAGTTCTCATAGCTAGAGAAAGGCCGTGTAGGTATAAGTGCTTAATGTTTCATCTGTCTGAAAGACCAGCTATTTGATAATCTTCCCGATTAAATTTCTAAAATTGCTACTT
TGGGAATTTTTTTCTTTATTCTTGTAAAGTTTTGCTTCCATTATATACTCATTCATTAGTCAGTGTACTTGCCCCTGAATTCCATATCTGAAACTGCAGTCACGGGAGATTCAGAGCCAAGGGCAAAA
TAAAGTGGCAGGCACTGGGTGTGTGTGGTAGTTCTGCACTAGGGTGGCCAGGAAGCAGCCAAGCAGGTGTGCCGGGCAGGGAGTTGTTAATGAACACCCAGGCAAGAGGACGGGCCTGAGCCTGAGTG
TGGCCAGCAGAAAGTGTTGAGTTGCTTAAAAGAGACCCTGGGAGGATGAATTTGGAATCATCATCCACTCACTGTTGGACAGAAAGACTGCAGAGAAGGGCACTGCTGGGGTGGGGTTTGTTAACTCC
CTCTGAAATGAAAGAAAATACCTCTAGTGGCATGAAACGGCTAAGTTTTTTTTAATGTTACTTCTTTAATTTTAGAGACGGTGTCTGGCTTTGTCACGCAAGCTGGAGTTTGGTGGTGTGATTGCAGC
TCACTGCAGCCTTAAACAACTGGGCTAGGTGATCCTCCCATCTCAGCCTCCCAAGTAGCTGGGACTACCTGTGCACACCACCATGCCTGGCTGTTTTTAATACGGGGTTTTGCTGAGTTGCTCAGGCG
CTCCTCAAACTGCTGGCCTCAAGTGATCCTCCAGCCTGGGCCTCTCAAACATAAATAGGCTGGGCGTGGTGGCTCACGTCTGTAAAGATTTAAAGCGGAAAAGCGGAATGCAGTGAAATAGCATGAGA
AAGAGCGTTTTTATGTACATCACAGACAAGCCTTGTTCTGCTGAAGAGGTGATGCCACGAGGTGGGGAGGAGCTCACTTCAGGCACCACTCCCACTTCCATTGCCCGCAAATCCAGGAAAGAAATGAC
TAATGAACTCTAGTGATCGCAAACTGCTCAATCGGTACTCATCAATTTAAAATGACTGTCCAGCCTTGCTGCACACTAAACTCATCTGTAGAACTTTATAAAACCACGGATGACCATCACACTAGCAG
GATTTTAGATTCAGAGTTGGGGTGGGGCCTGGAGCTCTGTTTTCTGAAACTTTGCGGGCCATTCTGAACCTGCAGCCAGGCAGGACTCTGGCAAGAAGAGGCGTGTGGCTAATATGACGGAAGTCTGA
ATCCAAGGACTTTTTTTTTTTTTTTTTTTGGAGACAGTCTTGCTTTGTCTCCCAGGTTGGTGTGCAGGGGTGTGATCTCGGCTCACTGCAACCTCCATTTCCCAGATTCAAGCGATTCTCGTGCCTCA
GCCTTTCAAGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATAGTATTTTTGATAGAGAGGGGGTTTCGCAATGTTGGCCAGGCTGGTCTTGAACTCCCGACTTCAAGCTATCCACCTGC
CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACTTCACCCAGCCCCAAGAACATCTTGAAATGGAGTTTGATTACCAAAGTTTACATAGAGTAATGGATAATTAAAATTTTCAATTTATGG
TGCATTACAAAATGTTATAAACAAGCCTCCGGGAAAGGCAGAAATTGCCAGATGTAAGTATATAAAACTTACACAGTTTGTTCCTTTTTGTTGTCTTCCCTTGTGGAGATGGGTCAGTGTAACATCCT
ATTCATTAATAGCTCTCAGATGTCCCATGAGAATGGCACATGTTATTTCCCAACAGTGGGAATGGAATTAGTTCCTTTATATCTCAGTCTCATCTGGTCTTGTAAGCCGGTGAAGGGTTTCCCAGGGC
ACCAGCCACCAGCTCTGTATAGTAGTTACAGTTTCCCTCTCTAGAATCCCAAAGAGGTTCAGATCCCACTGCTCCTCTCATTGGCTTCGTGACCCTGGGTACGCTGCTCAACTTGCGCAAGGATTACT
GTCCGCTTTGTACAATGGAGATACCTATAGTGTCCACTTAGGAGATGCTGTGCATGCCTCAGTGAGGTAATGTCCGCAGAAAGCACAATGCCTAGTATGTAGAAAGTGTCCGATAAATATAATATGCG
GCTAAACAGCGGAGTCCACAGCCTGAATGGAACTTCTTTTTCTACGTAAATACAGCAAACAATGCAGGGAAATGAGGTGGACAGTGTTCTCCGTGGAGGGCTAAACAGCATTGCTTTCCAGCTGACTT
TTATTTTTGGAGTCTGGGACTAGGTGTTAACATTCCTTTACTAGTTGGTTTTGCATACCGCACAGTCCCTGCATCTATTTAAGAGTTTTGAGGTTTGTTGTGGGAAGTTTTTTTTTTTTTTTTTTTTT
TTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCGCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACTGG
CGCCCGCCACCACGCCCGGCTAATTTTTTTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGGCAGGATGGTCTCAGTCTCCTGACCTTGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTG
GGATTACAGGTGTGAGGGAGTTTTTCGGTAGTTTGCTTTGCCTTGATAAACTATATGATATTTAAATGTTTTATAAGGATGGGTTTTCAGTAGAATTTCTCTGTACAACCTCAGGGAGACTGCCTGGA
GGAATAACTGTGGTAAGGGTCTGTTTTTGAACAGGCATGGTCATTAGACCCTTGTGATCACGCATCCAGGGGCCAGTCCCCACCCTTTGCTCCCACTCCAAGGAAAGTCTGTTACATTTTTAGCCTTC
AGAGGTTTGATGTAGATAGGAAGAGATGAGGGTGACAGAAATCAGCTCTTAAGTTTATAAATAAAACAGGGATATTATCGGGGAAGCTTTTGAAATGTAATAGGTTGTAACCCACATTTTGAAAGCAG
TAAGGAAATAATTGCTGCTTTTTTCTTCTTCTTTATTCTGTTGACTTTGTTGATAATATTAGGTGACTACATCGAGCCTGGGTTCTCTCAGTATTAGCCTGTTATTCCTAAAGTATCATCCTCTCCTT
GTATCAAATATAAGGACAAAAATGTCTTAGGATAAAAGTCTGTTTGTTTGCATTAGACTATACATGATTTGCATTACAATGGGCCGTGGATTTGGATGGATGATGAAGCTGAAACAAGGGACCTAATC
ATGGGATTTAACTGTTCACTTCAGGTAGATAAGATATTTCTGGGAGAAGTAAATTGGATGAGCTTTTGTGCTTCCCAGCAGCTCCAGGTCTTGTCCCTGGCCAGTCTGGGCAGCTCTGCGCTCAGAGG
CCTTTGGCACGATGGGTCCTCCCAGCAGGGGCTCCAGCGCTCACCGCTGGGTGAGATCTACAGGGCTCAGTGCGCTTGGAGTCCTGGATTCCTCCAGGACTGCTACTGTATTCCAATTGAGTGGTGGT
TTGCTCTTCACAGAGCGCTTACATGGGATTCTTACCTTCTGACTGGAGTGTCACCCTCGCCCAGGAATGTGGGTGCTGGAGAGACGGGCTACCTCTTTCTGTAGGCGGATGTTTCTGAAGGCATCTCC
CACTGATTATGTAATGACAGCTACTTAACATCTTCTGTAGTCTTGAAGAATTCAGATGAGGAGCTTGTCCAGGGAGGGCTCCCACGTGCGTATTCACTAATTGTGGTCTTTCTCCCCAGCTCGGTTTT
GTTTGCGTATTAGAGTTCTGACCATCTTCACTAGAAGTGGGGGCGGCTAGCAGTGACTAGATGCAAGAAGCAAAACGGTAAATTTCCTTTTACTGGCAAAATTAAAACAGTGAACTTGAAATATCTCC
CCTACTCCCTGCAGAGACACTCTGAATCAAAGAAAACAATCAGTACTAACCCTGGAAACAATTTAAAAATGAACAAAAAGTCCTACCCTGAAGAAGAAGAATGTCTTACCAGCAAACGGTCTTGGGAC
AGCTGGTGTGAGAACTATATAAGAGAAATCAACAAATATTAATTGAACACCAGTCATGTGCAAAGCACTTAGCTAGGTCTTAGGGATGAGGACAAAAAGCATGTCACATTTTGTTGTTATAAGTGGGA
AAGATAAGTAATTACAAGTAAGCCCAGTGTTTTTAAAAGAGTGTGAACAGAGACCTTATTCTAATCCAGAGAGGCTGTGAAGTGCTGTATTCCCAAGGAACTGAAGTTCTAGCTGATACCTAATGGAG
GAATGGGTGTTATCCTGGTGGGAATGCCCTAGAATCTAGGAGAAGACAACAGGCCATTCGAAGGTGAGGAGGCTTGCCAGCATCAGTTTATAAGTGGACAGAGTCGAGAGCTATTTAGGAAGGAGAGC
TGACAGACCTCGGGGACTGAATGGATGCTGGGAGTAGGGGTGAAAAGAGAGGAGTCAGGCTTCCTCCCAGAGTTTGAGGACTTTGAGTGCTAAGGGCTTGTAGGAGAACGTTGTGGAGATGTCCGGTA
GGCATCTGAAAGAATGGATGGAGGAGGGGAAAGTCGGGCCTGGGAATGGCCAATTTCTGGTCATTCTCATATAGGCAACTGATGGCGAAGGGGATGACCTAGAGGGAGTTGGGAGGACAGCCTAGGAT
ACGTAAATAAGAGAATCTTGTATGTTCTAAAAATTAACATCATTGCAGCTTCCTCAGCCCTAGGATGGTTTTTAGATCTATCAAGGGATAGAAGATTGTCCAGCCCCTTGCTGCCCAGTGTAGTCAGT
GGGCTGACGACATTAGCATCACCTGGGTGCTTGCTAGCAATGCAAAATCTCAGGCCCCAGCCCAGACCACTGGATGAGAATCTGCATTTGAACAAGGTCCCCAGGTCATTCATGCACATTCAAAGTCA
GAGACACTGCCCCAACACCTCACTTTAGAGTGAGAAAACTTAACAGGTTTAAGCAACTTGCAGAAGATGACACAACTGACCAGCGACAGTCTGTCTTCTAGTCAGGCCTCTTTCCAGTTCTCCACGCT
GACCTTGACTTTCGAGATCACATACCAAGACCTTCAGCTGGATGGTCCCTGTAGCTGCTGTGACCACTAGAAGCAGGGTTAGGGGCGAGACTAATTTAATATCAATTAATGTAGACACTAGGCTTAGG
GCTAGGGAAAATGTAGTGAAGGATGCCTGTATTGTCCTAATGAACCACACTGGTGCCTACAAAATTTTTATTTTGGCAAAACCGTCCATGAATTTGGAGATGTTGAACAGGTTTCTCTCCGACAATCG
TCTCGTTTAATTGTGAAACTAGAATCACTTCCAGGAAGCTCTGAAGAATCAAGTCTGAGTGATGCAATGCTGCTTCCTCCTTCCTTCTCAAAAGCCTGCTCTTTGCCCATTTCTCTGTTCCCAAGGTC
ATTTTCTCCCCTTCTTGTTTCCAGGATCCACAGTTCCTGCTCTGCTTCCGCTTTCCCCACTGCTGGTTCAGGCTGTCTGCAGCAGCAGCAGCTCCAGGGTGCTGGGACACTGCTGGGTGACGCTCCAC
AGTGTGTGCTTCCCCATGTGGCTTCCACAGTCCCCTCTTGCTTCTCCCACATGTTAGTCTTCATAGATTAGTCTTCATCAATTCTTAGTATTATTTTTTAGGGATAGGGTCTTGCTGTGTTGCCCAGG
CTGCAGTGCAGTGGTATGATCTCTGCTTACTGCAGCCTCCACCTCTGGGACTCAGGCGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCATGCCACTGTGCCTGGCTAAATTATTT
TATATTTTGTAGAGTTGAGGTCGCACTTTTTTGCCCATGCTGGTCTTGAACCCCTGGGCTCAAGCGATCCTTCTGCCTCAGCCTCCCATTACGGGCAGGAGCCACTGCACACAGCTGATGAATTTTCG
TTTAGGCCCCTTTCTTTGTGAGAGGGGGCCCCAGGATTATGCCCCGGGATTAAAAGAAGCTGGGAGGCTCTCCAGGACCCTGAACAAAGGTGGAAGTAGGGTTGTAAATGGAAGAAAAAATAAGAGAG
ATTCATTATGTTCTAATGACTATGAGGGAAGCTTTAGTTTTTGTCTCCCTGAAGCATCAACCTGCTTTCCTGCTGCTGTTATCACATCCTTCCAGGGCTATCGGCTGTTCAGGAACAGGAGAGCTCTG
GAAGAGCAGGGACGACTTTGGCTTCTGTTTCCTGCCCATTGCAGATTAGGCATCAGCAAGGTACCCTCCTGTTTTTGTATGGCTCACCAAACTAAGGGTGATTTTCACATTTTACATGGCTGAAAAAC
ATCAAATGATATTTCAGGACATAGGGAAATTATATGACATTTGAATTTCAGTGTCCATAAATGAAGTTTTATTGGAACATAACCACATTCATTTGCAAGTTGTCCACGGCCACTTTGGTGCTACTGTG
GCAGAATTGAGTAGTTGCTGCAGAGACCGTATGATGAGAATATGTGGCATTCTCATCATTTTGCCCTGCCGCTCTGTGCAATGTAAATTGCAGTGACACAGTTATAACTCAGCAGCATTTTGAATGCC
ACTTGTATTCCCATGCTACAACATTTTATTTTTTATTACCAATATATACAAGAAAAGTGGATTTCAAATATCATTGTGCTTTTAAGGTACAATGGAGTATGAATTGTTACTGAATTAGGCAGCAAAGT
GCAATGACATGGTAGCTGTCCTAAGGAACACAATACAACCAGGTGCAGTGGCTCATGCCTGTAATCCCAACGATTTGGGTGGCTGAGGTGGGAGAATCACTTGAACCCAGGATTTGGAGACCAGCTTG
GGTGGTATAGTGAGACCCCCCATCTCCACAAAAAGTAAAAAAAAACCAAAATACATGTTGTTACTTCCCATCTTAGCACTCATCAAGATATTTCTAATTCACAAGAAAGCAATGGTCAGAAAAATTAG
AAAATTTAAAATTGAATATCTCATCACAGAATTTATTCACAAAAATAAAAAATGAAAATGAAGCTACAACCAAAGTAAGTTTCAGATGGCTCATTTGTTAGCCAAGCAAGGAAAGTCACTTATGGTGA
ATTAATTAAATCATGCTTGATTACTGCAGCTGAAGAAACATGCTCAGAGAAAGTAAACTTGTTTATTGGCCTTTCCACGACAACAGTTGCTCAAAGAGTTGACATTAGGAATGACATCAGTAGTCGAC
TAAAAAGGCAAATGGTTTTGAGTGGTTTCCCCTGACTCTCATGACAGGGGTCACCATATGTTATGCACACTGCTCCGCTATTGCTCTTTATTTGAGGAGCCAGTACCAAGTTGGAAGTAACTGAAGAA
TTGGCCTCTATCAATAGTCTTATGTGGAACAACTACTGGCAAAAGTATTTTCAAAGCTGAGAAAACTGGTCAGGTGTGGCGGCTCATGCCTATAGTCCCAACACTTTGGGAGGCCAAGGTGGGCAGAT
CACCTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGTGAAACTACATCTCTACTAAAAGTACAAAAATTAGCCGGGCATGATGGCATGCACTGGTAATTCCAGCTACTCAGGAGGCTGAGGCA
GGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCACCACTGTACTCCAGCCTGGATGACAGAGTGAGAACATTGTCTCAAAACAAAAAGTTGAGAAAACGAATTCAGTACAC
CCTGAAGTGGAATCTGCTAAGATGTGTTATGACTGTTGGTAGTGGAAATATATGTGTGTATTAGTCCATTTTCATACTGCTATAAAGAAAAGCCTGAGACTGGGTAATTTATAAAGAAAAAGAGGTTT
AATGGACTCACAGTCCCGCATGGTTGGGGAGGCCTCACAATCGTTGTGGAAGGTAAAGGAGAAGCCAAGGCAAGTCTTAGGTGGCGGCAAGCAAGAGAGTGTGTGCAGGGGAACTGCCCTTTATAAAA
CCATCAGATCTCATGAGACTTACTCACTATTATGAGAACAGCATGGTAAAATCCTGCCTCCATGATTCAGTTACCTCCCACTGGGTCCTACCCATGACACGTGGGGATTATGGGGGCTACAATTCAAT
GAGATTTGGGTGGGGACACAGCTAACTCATATCAGTGTGGAATAGAAAATGGCTCAGTTGGACAACTTACAAAGCTTGTAATAATATAAGGTGTTAAAGCCTATAGATTATTCATTGTATTATTTAAG
TCAACAGATACTTTGTGAGAAATATTTGAATCTATCATGCATTATTGAACCAGTATTGTCAATAGTGAACTTCCTTTAGCTCTTGTGGACTTCACTATCAACAGCTCTCATGAATTTTTGTCAGAAAT
ATTAGCTGAATATCCCGACATGGCCTGTAATACAGCAGTTCAATGGTTTAGTAGTGGTAAAGTTTCATTTAAGTTTTGAGCTCAGGACAAAGATTGAAATTTTTCTGAATGAGAACTGCCCCGAACCA
CCGTTACTAAACACTGAATAGTTTTGGAAATTCACTTTTGCTGCAGACTTGATAGTGTTTCTTAAGGAATTCAGCCTAAACCACAAGATAAAAACAGTGTTTATGTGAAACTCCTACTGTGTTAAGTG
ATTTCAAGAAGAACTATTGTTTGAATCACAACTAATGTTACTGCTTTAAGCTCTTCCCATGTTGTTAAAAGTTAAAAAAAGAAGAGCTCCATTCCCACACACATTTGCCACAGATACATTATCTGAGC
CCAAACTACAGTTTGAGCAGTGTGTTAGGGACCTCAATGCAAACCCAAAAGAAATTTTTATATTTCAGAATCCATTGATCTGCATTTGAGAAGTGATTAATGTGTTGAAAGGCAACTATCTAAAGAAA
AATTTAATAGAGTCTAATAGAATCTTATAAAAATGTATAAATGTGTTTTATGTAATAAATATGCTAAGCTAAA

hide sequence

RefSeq Acc Id:

NM_101395 ⟹ NP_567824

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	37,367,557 - 37,515,376 (+)	NCBI
GRCh37	21	38,739,859 - 38,887,679 (+)	ENTREZGENE
Build 36	21	37,661,729 - 37,809,549 (+)	NCBI Archive
HuRef	21	24,215,875 - 24,363,782 (+)	ENTREZGENE
CHM1_1	21	38,301,002 - 38,448,854 (+)	NCBI
T2T-CHM13v2.0	21	35,749,873 - 35,897,757 (+)	NCBI

Sequence:

show sequence

GGGAGCGCGGCGCGGGAGCCCGAGGCTGAGACTCACCGGAGGAAGCGGCGCGAGCGCCCCGCCATCGTCCCGGCTGAAGTGCAGTGGCACGATCATAGGTGGTCACTACAGTCTCAGATTCCTGGGCT
TAAGCAGTCTTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGTGTTATAGTTTTGCCGCTGGACTCTTCCCTCCCTTCCCCCACCCCATCAGGATGATATGAGACTTGAAAGAAGACGATGCATA
CAGGAGGAGAGACTTCAGCATGCAAACCTTCATCTGTTCGGCTTGCACCGTCATTTTCATTCCATGCTGCTGGCCTTCAGATGGCTGGACAGATGCCCCATTCACATCAGTACAGTGACCGTCGCCAG
CCAAACATAAGTGACCAACAGGTTTCTGCCTTATCATATTCTGACCAGATTCAGCAACCTCTAACTAACCAGGTGATGCCTGATATTGTCATGTTACAGAGGCGGATGCCCCAAACCTTCCGTGACCC
AGCAACTGCTCCCCTGAGAAAACTTTCTGTTGACTTGATCAAAACATACAAGCATATTAATGAGGTTTACTATGCAAAAAAGAAGCGAAGACACCAACAGGGCCAGGGAGACGATTCTAGTCATAAGA
AGGAACGGAAGGTTTACAATGATGGTTATGATGATGATAACTATGATTATATTGTAAAAAACGGAGAAAAGTGGATGGATCGTTACGAAATTGACTCCTTGATAGGCAAAGGTTCCTTTGGACAGGTT
GTAAAGGCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTAAAATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGA
AATGAAATACTACATAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTT
TGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGT
GCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGATATACCAGTATATTCAGAGTCGCTTTTATCGGTCTCCAGAGGTGCTACTGGGAATGCCTTATGACCTTGCCATTGATAT
GTGGTCCCTCGGGTGTATTTTGGTTGAAATGCACACTGGAGAACCTCTGTTCAGTGGTGCCAATGAGGTAGATCAGATGAATAAAATAGTGGAAGTTCTGGGTATTCCACCTGCTCATATTCTTGACC
AAGCACCAAAAGCAAGAAAGTTCTTTGAGAAGTTGCCAGATGGCACTTGGAACTTAAAGAAGACCAAAGATGGAAAACGGGAGTACAAACCACCAGGAACCCGTAAACTTCATAACATTCTTGGAGTG
GAAACAGGAGGACCTGGTGGGCGACGTGCTGGGGAGTCAGGTCATACGGTCGCTGACTACTTGAAGTTCAAAGACCTCATTTTAAGGATGCTTGATTATGACCCCAAAACTCGAATTCAACCTTATTA
TGCTCTGCAGCACAGTTTCTTCAAGAAAACAGCTGATGAAGGTACAAATACAAGTAATAGTGTATCTACAAGCCCCGCCATGGAGCAGTCTCAGTCTTCGGGCACCACCTCCAGTACATCGTCAAGCT
CAGGTGGCTCATCGGGGACAAGCAACAGTGGGAGAGCCCGGTCGGATCCGACGCACCAGCATCGGCACAGTGGTGGGCACTTCACAGCTGCCGTGCAGGCCATGGACTGCGAGACACACAGTCCCCAG
GTGAGCTCGCACGTGGTTCATTTGCTTGTGTCACCTGCCATTCTCAGGTGGAGCAGCACTGGATGCCAGGTGCCTTTAGAATGACCGTATCATTTACCCTAGAGGTTCATGACGTTCCTGTCTAAGGA
AATGTGCGTCAGCAATTTCCTGCTCCTCTTGGTTGGTCAGGCACTGAAGCTCCTACACAGGTCACTGTTGAAACTCATCCTGTTCAAGAAACAACCTTTCATGTAGCCCCTCAACAGAATGCATTGCA
TCATCACCATGGTAACAGTTCCCATCACCATCACCACCACCACCACCATCACCACCACCATGGACAACAAGCCTTGGGTAACCGGACCAGGCCAAGGGTCTACAATTCTCCAACGAATAGCTCCTCTA
CCCAAGATTCTATGGAGGTTGGCCACAGTCACCACTCCATGACATCCCTGTCTTCCTCAACGACTTCTTCCTCGACATCTTCCTCCTCTACTGGTAACCAAGGCAATCAGGCCTACCAGAATCGCCCA
GTGGCTGCTAATACCTTGGACTTTGGACAGAATGGAGCTATGGACGTTAATTTGACCGTCTACTCCAATCCCCGCCAAGAGACTGGCATAGCTGGACATCCAACATACCAATTTTCTGCTAATACAGG
TCCTGCACATTACATGACTGAAGGACATCTGACAATGAGGCAAGGGGCTGATAGAGAAGAGTCCCCCATGACAGGAGTTTGTGTGCAACAGAGTCCTGTAGCTAGCTCGTGACTACATTGAAACTTGA
GTTTGTTTCTTGTGTGTTTTTATAGAAGTGGTGTTTTTTTTCCAAAAACAAAGTGCAAAGCTGCTTGAATCAGGAGGAGATTAACACACTGAACCGCTACAAGAGGGCAAAGCTGATTTTTTTTTTAA
CTTGAAAAGATTGCAAAGGGACATTGAAGTGTTTAAAAGAGCCATGTCCAAACCCATCTTCATGGATAGCTCAGAGGTATCCTCTTTTTGCTCCCCCATTTTAACTTGCCACATCCCAGTCACAGTGG
GGTTTTTTTGTCTTTCTATTCAGCAAAAGTTAATATTCAGATGTTGGTCTTGGTCATTTGCCAACTAATTTTAAAGTAAAAGGCACTGCACATAATTTGCATAAAGGGCCCCATGAGGGTGTTTTTTT
TTTTTCTTTTTGTCCCCCCCATCCCCCTTTTTTTTTGTTTTGTTCTGTTTTGTTTTGGGTGGGAGGGTGGGAAATTTGGGTTTTTAAGTCCTCTAAACACACTTGGGCACGGAAATGCAGTACTGTAA
GGAAGAGGGACCTCCAGCTTCCACAAACACCATCTTCAGCTGTATGAAAGGGACGGTTGTGGTGAAGTTTGTCAGGCACAGTAAGCATGCTGAGTGGCGGGGATCAGAACTCTCCTATCTGAACCTAC
TGAGGAGCAAAGCAGCAATTACATGGGATCCTGTGGCTCTCCCGTTGCAGAGGCCACAGGAAGATAGGATGGAACGTGACTGGTCTCCTAACCAAGGTGCACTGAGAAGCAATCAACGGGTCGGTCGT
GGCCAGTCCTGGGGAGGTCTGAGTGGTGGTCTTTGGGATAACCTTTGGCCTTATGGATTTGGACTCGAAATTAGAAGAGCCTACCATTTCAGATGCAATCACTTTTGGACATGCTTTTGCAGACAGTC
CTTAATGCTGAAAACACAGAGAATGGGTAATTCAAGAGGCCTTTCTTTTAAAATAGACTTTTGTGACCCACTAATTGTAAGGTATTGCAAGGTCACTTTGCGTGTGTCATAAAGTTGACTTCCTTATT
GGTTGAAGGTCACAGAAGTAGTGGTTTGCTTTGATGGAAATAGCTACAGCTGTGTCCCTTCCTGCTTTTTACTTTTTCTTTTGCTTTTTCTCGGCACGTGGTATCTCCACCATTTCTTCTGCACAAAG
ATGTCTTCTGTTCATCCTGAACATTTTTAAAAAATGCAGAATTTTATGTGACTGCTTTTTTGCCTCACAATTATGCTGTGAATTTTACAAAAATTTATTTTCTTTTTTGATAATTTATTGTACCAAAG
CTGTTTTTATAGCACATAGATGTCTGTAACCAATAATGTAGCAGTTCTGCACTTTGACACAAGGTGTAACTAGACCATTTTTAAATGTCAGTTGAAAATTATGGCTGTACTATTGCTTAAACAAAACT
GGAACTGTTGTTGAATCCATAGCCAATACATTTACAGCAATCTGTGTACTGAACATAGTAGATTGACATCTAATTCAAGATTACAACATCTGTTACATTCTAAGTGTGTTCAGGCTTCTGAAGGTAAA
GGGACACTGGATCCAGAAGCTATGGAACCAGCAGTTGATTCTTGTATTCCTGATTAACCTACTTGTAAACTTGAAAGCAAGACCTTGATTGCACCAACAGGTCCAGAGTATGAGTGCAAGCAAAGCAG
AACTCTCATGCGTGACCTGAGCAGACAGGCTGGTATTTAACAGGTGCCTCGTGTTGAGATTACGCTGCCTTAATGTAACACAGTCTGGCAGTTGCTAAATTTGTGTTCCCATTTTAAATTGACCAATT
TTGGGGTGTGACACTTTTGAGCGGTTGAATTGGGAGAATGAAGATAAGTAATTTACCTGTCCAGGATCAAAAGAAGCCTAGAAAAGAAGCAGTAATCTACCTCTGCCGATAACCTGTTTAAGATGACT
CAGCAGAACACCGCGTTTCATTCTATTGGTCAATTCCATGTGGCTGACTAGGTCAATTTTTTTTCTGAACAAAAGCAGGTTTTTATATGTAAACAGTGAGAAAAGAAAGGCTAAACACTATGTAAATG
TGAATGGAAACTTGGAAATACTCGTTTTTATAAACTACAAAAACTTTTTGTTGTTTATCAGGAAATCCATATTTATTTTGTAATTAACTGTCAAGCCTGTGGATGATTTTTTTGAACTTGGTAGTTCA
TAAAGGTTTACAGTGAATAAAAGGATATCATCTTGAGTATAGCAATATCAAAAGGAATTCAGTAGTTACTGCTGTTTAGGAATATAAGGTTAAGATATCATATGGGTCAGGTCATTTTTTTTTTCTGT
GCTGGTTGCCACATCTTAGCAAGCACCAAAAAACTAAAGCAGTTTTTAAACCGATATTTACGTAAAGAAAATCATAAAATCCAATGCTTCTGCATACTGTGTTATGTTACAGTCCAGTTTTGTGTGCT
TTACTACACAGTTTGGTTACAGGACTTCTGTGCATTGTAAACATAAACAGCATGGAAAAGGTTAAATACCTGTGTTCAGATTGTAAGATCTAGTCCGGACTTGCTGTGTATATTGTAACGTTAAATGA
AAAAAGAACCCCCCTTTGTATTATAGTCATGCGGTCTTATGTATGATAAACAGTTGAATAATTTGTCCTCAGACTCTTTACTATGCTTTTTTAAAAATTAATTTAAGAAAAATGTAAACATAGTAAAA
ATCTTCCTATGCAATTAAACTGGTCCAGGTCTGGTAGGTATAGTATCAAAGTTGAGTTAAATGTGTAAAAAGGAAACTATTTGAGATACATTGACATAGGCATCAGCAATCTCTGAAAGTAAAAATTG
GAGGTTTAACAGA

hide sequence

RefSeq Acc Id:

NM_130436 ⟹ NP_569120

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	37,418,905 - 37,515,376 (+)	NCBI
GRCh37	21	38,739,859 - 38,887,679 (+)	ENTREZGENE
Build 36	21	37,713,077 - 37,809,549 (+)	NCBI Archive
HuRef	21	24,215,875 - 24,363,782 (+)	ENTREZGENE
CHM1_1	21	38,352,361 - 38,448,854 (+)	NCBI
T2T-CHM13v2.0	21	35,801,248 - 35,897,757 (+)	NCBI

Sequence:

show sequence

AAAAATAACTCATATTGTCTCTGAGGTTCTTTTCCAGTGAAGTGTTTAGTATTGCTGCTATTTG
GAGTACAAAGTTGGAGCTTTTAAAGAACCTGGGAGTTCAAAAGTATAAGGAGAAATAAATGAAAAGCAGAAATATTTTGAGGCAATAAGTATAGACTCAAATCTATATTATGACCCACTTGTAGCACC
ACTTGGAATTCTACCAATAAGAGATTTATTTGGGCAAACTATAATGGTTGTTGGAAATTGCAAATCTTAGTGTGAATTATTTTAGTCCAGTTGGTTTCTTTCTTTCTCTTACCTGAAATGAACTATAC
TGAGGCAATAGGAGCTTTGTATAGTAATTTAGGAGTGTAAAACAACTTAGGGAAAAGGATTATTAAGCAGGATGATTGGGATGACATCATGTGAAATTTAGGAATTGGAGGCATTGGGAATTGAGAGG
GTGCTAACAAAGGAAAACAGCTTATTTTAGAATTTGTCTGGAGGATGTAGAATTGAAGAAGTTTTGGTATTTCTTCTGCAGCGGCCCCAGTGCCCTTGACCAGGAACATCTCTTGGAGTCAGTAGTTT
TCATGAGGCTGACCTAGGAACTTGGCCAACATATGCAACATTGTTCTATTTAAAATATTCCTTGAATTAAATTCGATAGTATCAATTTAAAACATAAAGTTTTCACTCAACTCCTTTAGAAGTTAGAT
TTTAGCTTGTACTTGTCTTTACCTCTTCTGCTGATTATCAGTTGACAACACTGAGATTACTTTCATTTTCCTGTAAGTCATTATGAATTTTTCTGGTCAACCATGAGTTATCAGTGGAAGCAATAAGT
AGGAAGTACTGTAAAAGAATTACAATAAAATAAGAGAAACCACTTGGAGAGCAAGAGGGCTTGTGGACTTGGGGGAGCGGTTGTGAGAAATGTCTCAGAACTTAATTTACAAATAACATTGGTAGATT
GACATGTTGTCTTTCCTATAAAGTAACTTTACCTCTGTCTTAATAGTAAACTACTATGAAAGTGAATTCGTGTTCCTCTTGATTTGTGAACTGATGAAAATTACAAAATGTGGAGTTTTTTCCCCAGA
TAAAGTAAATGGTGGAATATTCAGGTTTATTTGATACCTAGAAAATACCTGAAATTTTCCGTGGTAATAGGCACATTTTGAAACTGTTTTTTTTTTCTCTGACAATTGAATATATTTTATATATAGTT
GATTTTGATTATTGAAGACTAAGGAAAATTTAAGTTTGAATGTTAGAAAATGAATTTTGCAAATTTGAAGTAATTTTATTCTTTATGTTTTGGGATTGTAGTTATGTTAGATATTCCTCAGTTGGGGT
AATTGTCTTGCATCATTATCTCTTATCATAATCTGTTTTTCTTCACACAGTGTTATAGTTTTGCCGCTGGACTCTTCCCTCCCTTCCCCCACCCCATCAGGATGATATGAGACTTGAAAGAAGACGAT
GCATACAGGAGGAGAGACTTCAGCATGCAAACCTTCATCTGTTCGGCTTGCACCGTCATTTTCATTCCATGCTGCTGGCCTTCAGATGGCTGGACAGATGCCCCATTCACATCAGTACAGTGACCGTC
GCCAGCCAAACATAAGTGACCAACAGGTTTCTGCCTTATCATATTCTGACCAGATTCAGCAACCTCTAACTAACCAGAGGCGGATGCCCCAAACCTTCCGTGACCCAGCAACTGCTCCCCTGAGAAAA
CTTTCTGTTGACTTGATCAAAACATACAAGCATATTAATGAGGTTTACTATGCAAAAAAGAAGCGAAGACACCAACAGGGCCAGGGAGACGATTCTAGTCATAAGAAGGAACGGAAGGTTTACAATGA
TGGTTATGATGATGATAACTATGATTATATTGTAAAAAACGGAGAAAAGTGGATGGATCGTTACGAAATTGACTCCTTGATAGGCAAAGGTTCCTTTGGACAGGTTGTAAAGGCATATGATCGTGTGG
AGCAAGAATGGGTTGCCATTAAAATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGAAATGAAATACTACATAGTGCAT
TTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGC
GCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTG
GCAGTTCTTGTCAGTTGGGGCAGAGGATATACCAGTATATTCAGAGTCGCTTTTATCGGTCTCCAGAGGTGCTACTGGGAATGCCTTATGACCTTGCCATTGATATGTGGTCCCTCGGGTGTATTTTG
GTTGAAATGCACACTGGAGAACCTCTGTTCAGTGGTGCCAATGAGGTAGATCAGATGAATAAAATAGTGGAAGTTCTGGGTATTCCACCTGCTCATATTCTTGACCAAGCACCAAAAGCAAGAAAGTT
CTTTGAGAAGTTGCCAGATGGCACTTGGAACTTAAAGAAGACCAAAGATGGAAAACGGGAGTACAAACCACCAGGAACCCGTAAACTTCATAACATTCTTGGAGTGGAAACAGGAGGACCTGGTGGGC
GACGTGCTGGGGAGTCAGGTCATACGGTCGCTGACTACTTGAAGTTCAAAGACCTCATTTTAAGGATGCTTGATTATGACCCCAAAACTCGAATTCAACCTTATTATGCTCTGCAGCACAGTTTCTTC
AAGAAAACAGCTGATGAAGGTACAAATACAAGTAATAGTGTATCTACAAGCCCCGCCATGGAGCAGTCTCAGTCTTCGGGCACCACCTCCAGTACATCGTCAAGCTCAGGTGGCTCATCGGGGACAAG
CAACAGTGGGAGAGCCCGGTCGGATCCGACGCACCAGCATCGGCACAGTGGTGGGCACTTCACAGCTGCCGTGCAGGCCATGGACTGCGAGACACACAGTCCCCAGGTGCGTCAGCAATTTCCTGCTC
CTCTTGGTTGGTCAGGCACTGAAGCTCCTACACAGGTCACTGTTGAAACTCATCCTGTTCAAGAAACAACCTTTCATGTAGCCCCTCAACAGAATGCATTGCATCATCACCATGGTAACAGTTCCCAT
CACCATCACCACCACCACCACCATCACCACCACCATGGACAACAAGCCTTGGGTAACCGGACCAGGCCAAGGGTCTACAATTCTCCAACGAATAGCTCCTCTACCCAAGATTCTATGGAGGTTGGCCA
CAGTCACCACTCCATGACATCCCTGTCTTCCTCAACGACTTCTTCCTCGACATCTTCCTCCTCTACTGGTAACCAAGGCAATCAGGCCTACCAGAATCGCCCAGTGGCTGCTAATACCTTGGACTTTG
GACAGAATGGAGCTATGGACGTTAATTTGACCGTCTACTCCAATCCCCGCCAAGAGACTGGCATAGCTGGACATCCAACATACCAATTTTCTGCTAATACAGGTCCTGCACATTACATGACTGAAGGA
CATCTGACAATGAGGCAAGGGGCTGATAGAGAAGAGTCCCCCATGACAGGAGTTTGTGTGCAACAGAGTCCTGTAGCTAGCTCGTGACTACATTGAAACTTGAGTTTGTTTCTTGTGTGTTTTTATAG
AAGTGGTGTTTTTTTTCCAAAAACAAAGTGCAAAGCTGCTTGAATCAGGAGGAGATTAACACACTGAACCGCTACAAGAGGGCAAAGCTGATTTTTTTTTTAACTTGAAAAGATTGCAAAGGGACATT
GAAGTGTTTAAAAGAGCCATGTCCAAACCCATCTTCATGGATAGCTCAGAGGTATCCTCTTTTTGCTCCCCCATTTTAACTTGCCACATCCCAGTCACAGTGGGGTTTTTTTGTCTTTCTATTCAGCA
AAAGTTAATATTCAGATGTTGGTCTTGGTCATTTGCCAACTAATTTTAAAGTAAAAGGCACTGCACATAATTTGCATAAAGGGCCCCATGAGGGTGTTTTTTTTTTTTCTTTTTGTCCCCCCCATCCC
CCTTTTTTTTTGTTTTGTTCTGTTTTGTTTTGGGTGGGAGGGTGGGAAATTTGGGTTTTTAAGTCCTCTAAACACACTTGGGCACGGAAATGCAGTACTGTAAGGAAGAGGGACCTCCAGCTTCCACA
AACACCATCTTCAGCTGTATGAAAGGGACGGTTGTGGTGAAGTTTGTCAGGCACAGTAAGCATGCTGAGTGGCGGGGATCAGAACTCTCCTATCTGAACCTACTGAGGAGCAAAGCAGCAATTACATG
GGATCCTGTGGCTCTCCCGTTGCAGAGGCCACAGGAAGATAGGATGGAACGTGACTGGTCTCCTAACCAAGGTGCACTGAGAAGCAATCAACGGGTCGGTCGTGGCCAGTCCTGGGGAGGTCTGAGTG
GTGGTCTTTGGGATAACCTTTGGCCTTATGGATTTGGACTCGAAATTAGAAGAGCCTACCATTTCAGATGCAATCACTTTTGGACATGCTTTTGCAGACAGTCCTTAATGCTGAAAACACAGAGAATG
GGTAATTCAAGAGGCCTTTCTTTTAAAATAGACTTTTGTGACCCACTAATTGTAAGGTATTGCAAGGTCACTTTGCGTGTGTCATAAAGTTGACTTCCTTATTGGTTGAAGGTCACAGAAGTAGTGGT
TTGCTTTGATGGAAATAGCTACAGCTGTGTCCCTTCCTGCTTTTTACTTTTTCTTTTGCTTTTTCTCGGCACGTGGTATCTCCACCATTTCTTCTGCACAAAGATGTCTTCTGTTCATCCTGAACATT
TTTAAAAAATGCAGAATTTTATGTGACTGCTTTTTTGCCTCACAATTATGCTGTGAATTTTACAAAAATTTATTTTCTTTTTTGATAATTTATTGTACCAAAGCTGTTTTTATAGCACATAGATGTCT
GTAACCAATAATGTAGCAGTTCTGCACTTTGACACAAGGTGTAACTAGACCATTTTTAAATGTCAGTTGAAAATTATGGCTGTACTATTGCTTAAACAAAACTGGAACTGTTGTTGAATCCATAGCCA
ATACATTTACAGCAATCTGTGTACTGAACATAGTAGATTGACATCTAATTCAAGATTACAACATCTGTTACATTCTAAGTGTGTTCAGGCTTCTGAAGGTAAAGGGACACTGGATCCAGAAGCTATGG
AACCAGCAGTTGATTCTTGTATTCCTGATTAACCTACTTGTAAACTTGAAAGCAAGACCTTGATTGCACCAACAGGTCCAGAGTATGAGTGCAAGCAAAGCAGAACTCTCATGCGTGACCTGAGCAGA
CAGGCTGGTATTTAACAGGTGCCTCGTGTTGAGATTACGCTGCCTTAATGTAACACAGTCTGGCAGTTGCTAAATTTGTGTTCCCATTTTAAATTGACCAATTTTGGGGTGTGACACTTTTGAGCGGT
TGAATTGGGAGAATGAAGATAAGTAATTTACCTGTCCAGGATCAAAAGAAGCCTAGAAAAGAAGCAGTAATCTACCTCTGCCGATAACCTGTTTAAGATGACTCAGCAGAACACCGCGTTTCATTCTA
TTGGTCAATTCCATGTGGCTGACTAGGTCAATTTTTTTTCTGAACAAAAGCAGGTTTTTATATGTAAACAGTGAGAAAAGAAAGGCTAAACACTATGTAAATGTGAATGGAAACTTGGAAATACTCGT
TTTTATAAACTACAAAAACTTTTTGTTGTTTATCAGGAAATCCATATTTATTTTGTAATTAACTGTCAAGCCTGTGGATGATTTTTTTGAACTTGGTAGTTCATAAAGGTTTACAGTGAATAAAAGGA
TATCATCTTGAGTATAGCAATATCAAAAGGAATTCAGTAGTTACTGCTGTTTAGGAATATAAGGTTAAGATATCATATGGGTCAGGTCATTTTTTTTTTCTGTGCTGGTTGCCACATCTTAGCAAGCA
CCAAAAAACTAAAGCAGTTTTTAAACCGATATTTACGTAAAGAAAATCATAAAATCCAATGCTTCTGCATACTGTGTTATGTTACAGTCCAGTTTTGTGTGCTTTACTACACAGTTTGGTTACAGGAC
TTCTGTGCATTGTAAACATAAACAGCATGGAAAAGGTTAAATACCTGTGTTCAGATTGTAAGATCTAGTCCGGACTTGCTGTGTATATTGTAACGTTAAATGAAAAAAGAACCCCCCTTTGTATTATA
GTCATGCGGTCTTATGTATGATAAACAGTTGAATAATTTGTCCTCAGACTCTTTACTATGCTTTTTTAAAAATTAATTTAAGAAAAATGTAAACATAGTAAAAATCTTCCTATGCAATTAAACTGGTC
CAGGTCTGGTAGGTATAGTATCAAAGTTGAGTTAAATGTGTAAAAAGGAAACTATTTGAGATACATTGACATAGGCATCAGCAATCTCTGAAAGTAAAAATTGGAGGTTTAACAGA

hide sequence

RefSeq Acc Id:

NM_130438 ⟹ NP_569122

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	37,420,299 - 37,515,376 (+)	NCBI
GRCh37	21	38,739,859 - 38,887,679 (+)	ENTREZGENE
Build 36	21	37,714,471 - 37,809,549 (+)	NCBI Archive
HuRef	21	24,215,875 - 24,363,782 (+)	ENTREZGENE
CHM1_1	21	38,353,755 - 38,448,854 (+)	NCBI
T2T-CHM13v2.0	21	35,802,642 - 35,897,757 (+)	NCBI

Sequence:

show sequence

TGTTATAGTTTTGCCGCTGGACTCTTCCCTCCCTTCCCCCACCCCATCAGGATGATATGAGACTTGAAAGAAGACGATGCATACAGGAGGAGAGACTTCAGCATGCAAACCTTCATCTGTTCGGCTTG
CACCGTCATTTTCATTCCATGCTGCTGGCCTTCAGATGGCTGGACAGATGCCCCATTCACATCAGTACAGTGACCGTCGCCAGCCAAACATAAGTGACCAACAGGTTTCTGCCTTATCATATTCTGAC
CAGATTCAGCAACCTCTAACTAACCAGGTGATGCCTGATATTGTCATGTTACAGAGGCGGATGCCCCAAACCTTCCGTGACCCAGCAACTGCTCCCCTGAGAAAACTTTCTGTTGACTTGATCAAAAC
ATACAAGCATATTAATGAGGTTTACTATGCAAAAAAGAAGCGAAGACACCAACAGGGCCAGGGAGACGATTCTAGTCATAAGAAGGAACGGAAGGTTTACAATGATGGTTATGATGATGATAACTATG
ATTATATTGTAAAAAACGGAGAAAAGTGGATGGATCGTTACGAAATTGACTCCTTGATAGGCAAAGGTTCCTTTGGACAGGTTGTAAAGGCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTAAA
ATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGAAATGAAATACTACATAGTGCATTTGAAACGCCACTTTATGTTTCG
AAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGC
TTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAG
AGGATATACCAGTATATTCAGAGTCGCTTTTATCGGTCTCCAGAGGTGCTACTGGGAATGCCTTATGACCTTGCCATTGATATGTGGTCCCTCGGGTGTATTTTGGTTGAAATGCACACTGGAGAACC
TCTGTTCAGTGGTGCCAATGAGGTAGATCAGATGAATAAAATAGTGGAAGTTCTGGGTATTCCACCTGCTCATATTCTTGACCAAGCACCAAAAGCAAGAAAGTTCTTTGAGAAGTTGCCAGATGGCA
CTTGGAACTTAAAGAAGACCAAAGATGGAAAACGGGAGTACAAACCACCAGGAACCCGTAAACTTCATAACATTCTTGGAGTGGAAACAGGAGGACCTGGTGGGCGACGTGCTGGGGAGTCAGGTCAT
ACGGTCGCTGACTACTTGAAGTTCAAAGACCTCATTTTAAGGATGCTTGATTATGACCCCAAAACTCGAATTCAACCTTATTATGCTCTGCAGCACAGTTTCTTCAAGAAAACAGCTGATGAAGGTAC
AAATACAAGTAATAGTGTATCTACAAGCCCCGCCATGGAGCAGTCTCAGTCTTCGGGCACCACCTCCAGTACATCGTCAAGCTCAGGTGCGTCAGCAATTTCCTGCTCCTCTTGGTTGGTCAGGCACT
GAAGCTCCTACACAGGTCACTGTTGAAACTCATCCTGTTCAAGAAACAACCTTTCATGTAGCCCCTCAACAGAATGCATTGCATCATCACCATGGTAACAGTTCCCATCACCATCACCACCACCACCA
CCATCACCACCACCATGGACAACAAGCCTTGGGTAACCGGACCAGGCCAAGGGTCTACAATTCTCCAACGAATAGCTCCTCTACCCAAGATTCTATGGAGGTTGGCCACAGTCACCACTCCATGACAT
CCCTGTCTTCCTCAACGACTTCTTCCTCGACATCTTCCTCCTCTACTGGTAACCAAGGCAATCAGGCCTACCAGAATCGCCCAGTGGCTGCTAATACCTTGGACTTTGGACAGAATGGAGCTATGGAC
GTTAATTTGACCGTCTACTCCAATCCCCGCCAAGAGACTGGCATAGCTGGACATCCAACATACCAATTTTCTGCTAATACAGGTCCTGCACATTACATGACTGAAGGACATCTGACAATGAGGCAAGG
GGCTGATAGAGAAGAGTCCCCCATGACAGGAGTTTGTGTGCAACAGAGTCCTGTAGCTAGCTCGTGACTACATTGAAACTTGAGTTTGTTTCTTGTGTGTTTTTATAGAAGTGGTGTTTTTTTTCCAA
AAACAAAGTGCAAAGCTGCTTGAATCAGGAGGAGATTAACACACTGAACCGCTACAAGAGGGCAAAGCTGATTTTTTTTTTAACTTGAAAAGATTGCAAAGGGACATTGAAGTGTTTAAAAGAGCCAT
GTCCAAACCCATCTTCATGGATAGCTCAGAGGTATCCTCTTTTTGCTCCCCCATTTTAACTTGCCACATCCCAGTCACAGTGGGGTTTTTTTGTCTTTCTATTCAGCAAAAGTTAATATTCAGATGTT
GGTCTTGGTCATTTGCCAACTAATTTTAAAGTAAAAGGCACTGCACATAATTTGCATAAAGGGCCCCATGAGGGTGTTTTTTTTTTTTCTTTTTGTCCCCCCCATCCCCCTTTTTTTTTGTTTTGTTC
TGTTTTGTTTTGGGTGGGAGGGTGGGAAATTTGGGTTTTTAAGTCCTCTAAACACACTTGGGCACGGAAATGCAGTACTGTAAGGAAGAGGGACCTCCAGCTTCCACAAACACCATCTTCAGCTGTAT
GAAAGGGACGGTTGTGGTGAAGTTTGTCAGGCACAGTAAGCATGCTGAGTGGCGGGGATCAGAACTCTCCTATCTGAACCTACTGAGGAGCAAAGCAGCAATTACATGGGATCCTGTGGCTCTCCCGT
TGCAGAGGCCACAGGAAGATAGGATGGAACGTGACTGGTCTCCTAACCAAGGTGCACTGAGAAGCAATCAACGGGTCGGTCGTGGCCAGTCCTGGGGAGGTCTGAGTGGTGGTCTTTGGGATAACCTT
TGGCCTTATGGATTTGGACTCGAAATTAGAAGAGCCTACCATTTCAGATGCAATCACTTTTGGACATGCTTTTGCAGACAGTCCTTAATGCTGAAAACACAGAGAATGGGTAATTCAAGAGGCCTTTC
TTTTAAAATAGACTTTTGTGACCCACTAATTGTAAGGTATTGCAAGGTCACTTTGCGTGTGTCATAAAGTTGACTTCCTTATTGGTTGAAGGTCACAGAAGTAGTGGTTTGCTTTGATGGAAATAGCT
ACAGCTGTGTCCCTTCCTGCTTTTTACTTTTTCTTTTGCTTTTTCTCGGCACGTGGTATCTCCACCATTTCTTCTGCACAAAGATGTCTTCTGTTCATCCTGAACATTTTTAAAAAATGCAGAATTTT
ATGTGACTGCTTTTTTGCCTCACAATTATGCTGTGAATTTTACAAAAATTTATTTTCTTTTTTGATAATTTATTGTACCAAAGCTGTTTTTATAGCACATAGATGTCTGTAACCAATAATGTAGCAGT
TCTGCACTTTGACACAAGGTGTAACTAGACCATTTTTAAATGTCAGTTGAAAATTATGGCTGTACTATTGCTTAAACAAAACTGGAACTGTTGTTGAATCCATAGCCAATACATTTACAGCAATCTGT
GTACTGAACATAGTAGATTGACATCTAATTCAAGATTACAACATCTGTTACATTCTAAGTGTGTTCAGGCTTCTGAAGGTAAAGGGACACTGGATCCAGAAGCTATGGAACCAGCAGTTGATTCTTGT
ATTCCTGATTAACCTACTTGTAAACTTGAAAGCAAGACCTTGATTGCACCAACAGGTCCAGAGTATGAGTGCAAGCAAAGCAGAACTCTCATGCGTGACCTGAGCAGACAGGCTGGTATTTAACAGGT
GCCTCGTGTTGAGATTACGCTGCCTTAATGTAACACAGTCTGGCAGTTGCTAAATTTGTGTTCCCATTTTAAATTGACCAATTTTGGGGTGTGACACTTTTGAGCGGTTGAATTGGGAGAATGAAGAT
AAGTAATTTACCTGTCCAGGATCAAAAGAAGCCTAGAAAAGAAGCAGTAATCTACCTCTGCCGATAACCTGTTTAAGATGACTCAGCAGAACACCGCGTTTCATTCTATTGGTCAATTCCATGTGGCT
GACTAGGTCAATTTTTTTTCTGAACAAAAGCAGGTTTTTATATGTAAACAGTGAGAAAAGAAAGGCTAAACACTATGTAAATGTGAATGGAAACTTGGAAATACTCGTTTTTATAAACTACAAAAACT
TTTTGTTGTTTATCAGGAAATCCATATTTATTTTGTAATTAACTGTCAAGCCTGTGGATGATTTTTTTGAACTTGGTAGTTCATAAAGGTTTACAGTGAATAAAAGGATATCATCTTGAGTATAGCAA
TATCAAAAGGAATTCAGTAGTTACTGCTGTTTAGGAATATAAGGTTAAGATATCATATGGGTCAGGTCATTTTTTTTTTCTGTGCTGGTTGCCACATCTTAGCAAGCACCAAAAAACTAAAGCAGTTT
TTAAACCGATATTTACGTAAAGAAAATCATAAAATCCAATGCTTCTGCATACTGTGTTATGTTACAGTCCAGTTTTGTGTGCTTTACTACACAGTTTGGTTACAGGACTTCTGTGCATTGTAAACATA
AACAGCATGGAAAAGGTTAAATACCTGTGTTCAGATTGTAAGATCTAGTCCGGACTTGCTGTGTATATTGTAACGTTAAATGAAAAAAGAACCCCCCTTTGTATTATAGTCATGCGGTCTTATGTATG
ATAAACAGTTGAATAATTTGTCCTCAGACTCTTTACTATGCTTTTTTAAAAATTAATTTAAGAAAAATGTAAACATAGTAAAAATCTTCCTATGCAATTAAACTGGTCCAGGTCTGGTAGGTATAGTA
TCAAAGTTGAGTTAAATGTGTAAAAAGGAAACTATTTGAGATACATTGACATAGGCATCAGCAATCTCTGAAAGTAAAAATTGGAGGTTTAACAGA

hide sequence


Protein RefSeqs	NP_001334650	(Get FASTA)	NCBI Sequence Viewer
	NP_001334651	(Get FASTA)	NCBI Sequence Viewer
	NP_001334652	(Get FASTA)	NCBI Sequence Viewer
	NP_001387	(Get FASTA)	NCBI Sequence Viewer
	NP_567824	(Get FASTA)	NCBI Sequence Viewer
	NP_569120	(Get FASTA)	NCBI Sequence Viewer
	NP_569122	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB18639	(Get FASTA)	NCBI Sequence Viewer
	AAC50939	(Get FASTA)	NCBI Sequence Viewer
	AAD31169	(Get FASTA)	NCBI Sequence Viewer
	BAA12866	(Get FASTA)	NCBI Sequence Viewer
	BAA13110	(Get FASTA)	NCBI Sequence Viewer
	BAA33975	(Get FASTA)	NCBI Sequence Viewer
	BAA33976	(Get FASTA)	NCBI Sequence Viewer
	BAA33977	(Get FASTA)	NCBI Sequence Viewer
	BAG63214	(Get FASTA)	NCBI Sequence Viewer
	CAA05059	(Get FASTA)	NCBI Sequence Viewer
	CAA05060	(Get FASTA)	NCBI Sequence Viewer
	CAA80910	(Get FASTA)	NCBI Sequence Viewer
	CCQ44048	(Get FASTA)	NCBI Sequence Viewer
	CCQ44049	(Get FASTA)	NCBI Sequence Viewer
	EAX09702	(Get FASTA)	NCBI Sequence Viewer
	EAX09703	(Get FASTA)	NCBI Sequence Viewer
	EAX09704	(Get FASTA)	NCBI Sequence Viewer
	EAX09705	(Get FASTA)	NCBI Sequence Viewer
	EAX09706	(Get FASTA)	NCBI Sequence Viewer
	EAX09707	(Get FASTA)	NCBI Sequence Viewer
	EAX09708	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000342690
	ENSP00000342690.3
	ENSP00000381929
	ENSP00000381929.2
	ENSP00000381932
	ENSP00000381932.2
	ENSP00000493627.1
	ENSP00000494544.1
	ENSP00000494572
	ENSP00000494572.1
	ENSP00000494897.1
	ENSP00000495571
	ENSP00000495908
	ENSP00000495908.1
	ENSP00000496748
	ENSP00000496748.1
GenBank Protein	Q13627	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_567824 ⟸ NM_101395
- Peptide Label:	isoform 3
- UniProtKB:	A0A2R8Y6L5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MHTGGETSACKPSSVRLAPSFSFHAAGLQMAGQMPHSHQYSDRRQPNISDQQVSALSYSDQIQQPLTNQVMPDIVMLQRRMPQTFRDPATAPLRKLSVDLIKTYKHINEVYYAKKKRRHQQGQGDDSS HKKERKVYNDGYDDDNYDYIVKNGEKWMDRYEIDSLIGKGSFGQVVKAYDRVEQEWVAIKIIKNKKAFLNQAQIEVRLLELMNKHDTEMKYYIVHLKRHFMFRNHLCLVFEMLSYNLYDLLRNTNFRG VSLNLTRKFAQQMCTALLFLATPELSIIHCDLKPENILLCNPKRSAIKIVDFGSSCQLGQRIYQYIQSRFYRSPEVLLGMPYDLAIDMWSLGCILVEMHTGEPLFSGANEVDQMNKIVEVLGIPPAHI LDQAPKARKFFEKLPDGTWNLKKTKDGKREYKPPGTRKLHNILGVETGGPGGRRAGESGHTVADYLKFKDLILRMLDYDPKTRIQPYYALQHSFFKKTADEGTNTSNSVSTSPAMEQSQSSGTTSSTS SSSGGSSGTSNSGRARSDPTHQHRHSGGHFTAAVQAMDCETHSPQVSSHVVHLLVSPAILRWSSTGCQVPLE hide sequence

RefSeq Acc Id:	NP_569120 ⟸ NM_130436
- Peptide Label:	isoform 2
- UniProtKB:	Q13627 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MHTGGETSACKPSSVRLAPSFSFHAAGLQMAGQMPHSHQYSDRRQPNISDQQVSALSYSDQIQQPLTNQRRMPQTFRDPATAPLRKLSVDLIKTYKHINEVYYAKKKRRHQQGQGDDSSHKKERKVYN DGYDDDNYDYIVKNGEKWMDRYEIDSLIGKGSFGQVVKAYDRVEQEWVAIKIIKNKKAFLNQAQIEVRLLELMNKHDTEMKYYIVHLKRHFMFRNHLCLVFEMLSYNLYDLLRNTNFRGVSLNLTRKF AQQMCTALLFLATPELSIIHCDLKPENILLCNPKRSAIKIVDFGSSCQLGQRIYQYIQSRFYRSPEVLLGMPYDLAIDMWSLGCILVEMHTGEPLFSGANEVDQMNKIVEVLGIPPAHILDQAPKARK FFEKLPDGTWNLKKTKDGKREYKPPGTRKLHNILGVETGGPGGRRAGESGHTVADYLKFKDLILRMLDYDPKTRIQPYYALQHSFFKKTADEGTNTSNSVSTSPAMEQSQSSGTTSSTSSSSGGSSGT SNSGRARSDPTHQHRHSGGHFTAAVQAMDCETHSPQVRQQFPAPLGWSGTEAPTQVTVETHPVQETTFHVAPQQNALHHHHGNSSHHHHHHHHHHHHHGQQALGNRTRPRVYNSPTNSSSTQDSMEVG HSHHSMTSLSSSTTSSSTSSSSTGNQGNQAYQNRPVAANTLDFGQNGAMDVNLTVYSNPRQETGIAGHPTYQFSANTGPAHYMTEGHLTMRQGADREESPMTGVCVQQSPVASS hide sequence

RefSeq Acc Id:	NP_569122 ⟸ NM_130438
- Peptide Label:	isoform 5
- UniProtKB:	A0A2R8YDF3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MHTGGETSACKPSSVRLAPSFSFHAAGLQMAGQMPHSHQYSDRRQPNISDQQVSALSYSDQIQQPLTNQVMPDIVMLQRRMPQTFRDPATAPLRKLSVDLIKTYKHINEVYYAKKKRRHQQGQGDDSS HKKERKVYNDGYDDDNYDYIVKNGEKWMDRYEIDSLIGKGSFGQVVKAYDRVEQEWVAIKIIKNKKAFLNQAQIEVRLLELMNKHDTEMKYYIVHLKRHFMFRNHLCLVFEMLSYNLYDLLRNTNFRG VSLNLTRKFAQQMCTALLFLATPELSIIHCDLKPENILLCNPKRSAIKIVDFGSSCQLGQRIYQYIQSRFYRSPEVLLGMPYDLAIDMWSLGCILVEMHTGEPLFSGANEVDQMNKIVEVLGIPPAHI LDQAPKARKFFEKLPDGTWNLKKTKDGKREYKPPGTRKLHNILGVETGGPGGRRAGESGHTVADYLKFKDLILRMLDYDPKTRIQPYYALQHSFFKKTADEGTNTSNSVSTSPAMEQSQSSGTTSSTS SSSGASAISCSSWLVRH hide sequence

RefSeq Acc Id:	NP_001387 ⟸ NM_001396
- Peptide Label:	isoform 1
- UniProtKB:	Q92810 (UniProtKB/Swiss-Prot), Q92582 (UniProtKB/Swiss-Prot), O60769 (UniProtKB/Swiss-Prot), Q9UNM5 (UniProtKB/Swiss-Prot), Q13627 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MHTGGETSACKPSSVRLAPSFSFHAAGLQMAGQMPHSHQYSDRRQPNISDQQVSALSYSDQIQQ PLTNQVMPDIVMLQRRMPQTFRDPATAPLRKLSVDLIKTYKHINEVYYAKKKRRHQQGQGDDSSHKKERKVYNDGYDDDNYDYIVKNGEKWMDRYEIDSLIGKGSFGQVVKAYDRVEQEWVAIKIIKN KKAFLNQAQIEVRLLELMNKHDTEMKYYIVHLKRHFMFRNHLCLVFEMLSYNLYDLLRNTNFRGVSLNLTRKFAQQMCTALLFLATPELSIIHCDLKPENILLCNPKRSAIKIVDFGSSCQLGQRIYQ YIQSRFYRSPEVLLGMPYDLAIDMWSLGCILVEMHTGEPLFSGANEVDQMNKIVEVLGIPPAHILDQAPKARKFFEKLPDGTWNLKKTKDGKREYKPPGTRKLHNILGVETGGPGGRRAGESGHTVAD YLKFKDLILRMLDYDPKTRIQPYYALQHSFFKKTADEGTNTSNSVSTSPAMEQSQSSGTTSSTSSSSGGSSGTSNSGRARSDPTHQHRHSGGHFTAAVQAMDCETHSPQVRQQFPAPLGWSGTEAPTQ VTVETHPVQETTFHVAPQQNALHHHHGNSSHHHHHHHHHHHHHGQQALGNRTRPRVYNSPTNSSSTQDSMEVGHSHHSMTSLSSSTTSSSTSSSSTGNQGNQAYQNRPVAANTLDFGQNGAMDVNLTV YSNPRQETGIAGHPTYQFSANTGPAHYMTEGHLTMRQGADREESPMTGVCVQQSPVASS hide sequence

RefSeq Acc Id:	NP_001334651 ⟸ NM_001347722
- Peptide Label:	isoform 2
- UniProtKB:	Q13627 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MHTGGETSACKPSSVRLAPSFSFHAAGLQMAGQMPHSHQYSDRRQPNISDQQVSALSYSDQIQQ PLTNQRRMPQTFRDPATAPLRKLSVDLIKTYKHINEVYYAKKKRRHQQGQGDDSSHKKERKVYNDGYDDDNYDYIVKNGEKWMDRYEIDSLIGKGSFGQVVKAYDRVEQEWVAIKIIKNKKAFLNQAQ IEVRLLELMNKHDTEMKYYIVHLKRHFMFRNHLCLVFEMLSYNLYDLLRNTNFRGVSLNLTRKFAQQMCTALLFLATPELSIIHCDLKPENILLCNPKRSAIKIVDFGSSCQLGQRIYQYIQSRFYRS PEVLLGMPYDLAIDMWSLGCILVEMHTGEPLFSGANEVDQMNKIVEVLGIPPAHILDQAPKARKFFEKLPDGTWNLKKTKDGKREYKPPGTRKLHNILGVETGGPGGRRAGESGHTVADYLKFKDLIL RMLDYDPKTRIQPYYALQHSFFKKTADEGTNTSNSVSTSPAMEQSQSSGTTSSTSSSSGGSSGTSNSGRARSDPTHQHRHSGGHFTAAVQAMDCETHSPQVRQQFPAPLGWSGTEAPTQVTVETHPVQ ETTFHVAPQQNALHHHHGNSSHHHHHHHHHHHHHGQQALGNRTRPRVYNSPTNSSSTQDSMEVGHSHHSMTSLSSSTTSSSTSSSSTGNQGNQAYQNRPVAANTLDFGQNGAMDVNLTVYSNPRQETG IAGHPTYQFSANTGPAHYMTEGHLTMRQGADREESPMTGVCVQQSPVASS hide sequence

Protein Domains

Protein kinase

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q13627-F1-model_v2	AlphaFold	Q13627	1-763	view protein structure

RGD ID:

13602802

Promoter ID:

EPDNEW_H27585

Type:

initiation region

Name:

DYRK1A_4

Description:

dual specificity tyrosine phosphorylation regulated kinase 1A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H27581 EPDNEW_H27586 EPDNEW_H27588 EPDNEW_H27587

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	37,367,602 - 37,367,662	EPDNEW

RGD ID:

13602804

Promoter ID:

EPDNEW_H27586

Type:

initiation region

Name:

DYRK1A_2

Description:

dual specificity tyrosine phosphorylation regulated kinase 1A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H27581 EPDNEW_H27585 EPDNEW_H27588 EPDNEW_H27587

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	37,420,325 - 37,420,385	EPDNEW

RGD ID:

13602808

Promoter ID:

EPDNEW_H27587

Type:

single initiation site

Name:

DYRK1A_3

Description:

dual specificity tyrosine phosphorylation regulated kinase 1A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H27581 EPDNEW_H27585 EPDNEW_H27586 EPDNEW_H27588

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	37,464,745 - 37,464,805	EPDNEW

RGD ID:

13602806

Promoter ID:

EPDNEW_H27588

Type:

multiple initiation site

Name:

DYRK1A_5

Description:

dual specificity tyrosine phosphorylation regulated kinase 1A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H27581 EPDNEW_H27585 EPDNEW_H27586 EPDNEW_H27587

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	37,472,687 - 37,472,747	EPDNEW

RGD ID:

6812117

Promoter ID:

HG_ACW:50543

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

DYRK1A.DAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	21	37,659,616 - 37,660,267 (+)	MPROMDB

RGD ID:

6799510

Promoter ID:

HG_KWN:40842

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000338785, OTTHUMT00000194803, UC002YWG.1, UC002YWH.1, UC010GNO.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	21	37,660,896 - 37,662,177 (+)	MPROMDB

RGD ID:

6799412

Promoter ID:

HG_KWN:40844

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

ENST00000398950

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	21	37,757,554 - 37,758,054 (+)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	DYRK1A	COSMIC
Ensembl Genes	ENSG00000157540	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000338785	ENTREZGENE
	ENST00000338785.8	UniProtKB/Swiss-Prot
	ENST00000398956	ENTREZGENE
	ENST00000398956.2	UniProtKB/Swiss-Prot
	ENST00000398960	ENTREZGENE
	ENST00000398960.7	UniProtKB/Swiss-Prot
	ENST00000643624.1	UniProtKB/Swiss-Prot
	ENST00000644942.1	UniProtKB/Swiss-Prot
	ENST00000645424.1	UniProtKB/Swiss-Prot
	ENST00000646548	ENTREZGENE
	ENST00000646548.1	UniProtKB/Swiss-Prot
	ENST00000647188	ENTREZGENE
	ENST00000647188.2	UniProtKB/Swiss-Prot
	ENST00000647425	ENTREZGENE
	ENST00000647425.1	UniProtKB/Swiss-Prot
	ENST00000647504	ENTREZGENE
Gene3D-CATH	Phosphorylase Kinase, domain 1	UniProtKB/Swiss-Prot
	Transferase(Phosphotransferase) domain 1	UniProtKB/Swiss-Prot
GTEx	ENSG00000157540	GTEx
HGNC ID	HGNC:3091	ENTREZGENE
Human Proteome Map	DYRK1A	Human Proteome Map
InterPro	Kinase-like_dom_sf	UniProtKB/Swiss-Prot
	PKc_DYR1A/1B	UniProtKB/Swiss-Prot
	Prot_kinase_dom	UniProtKB/Swiss-Prot
	Protein_kinase_ATP_BS	UniProtKB/Swiss-Prot
	Ser/Thr_kinase_AS	UniProtKB/Swiss-Prot
	Ser_Thr_dual-spec_kinase	UniProtKB/Swiss-Prot
KEGG Report	hsa:1859	UniProtKB/Swiss-Prot
NCBI Gene	1859	ENTREZGENE
OMIM	600855	OMIM
PANTHER	DUAL SPECIFICITY PROTEIN KINASE	UniProtKB/Swiss-Prot
	PTHR24058:SF121	UniProtKB/Swiss-Prot
Pfam	Pkinase	UniProtKB/Swiss-Prot
PharmGKB	PA27545	PharmGKB
PROSITE	PROTEIN_KINASE_ATP	UniProtKB/Swiss-Prot
	PROTEIN_KINASE_DOM	UniProtKB/Swiss-Prot
	PROTEIN_KINASE_ST	UniProtKB/Swiss-Prot
SMART	S_TKc	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF56112	UniProtKB/Swiss-Prot
UniProt	A0A2R8Y443_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y6I6	ENTREZGENE, UniProtKB/TrEMBL
	A0A2R8Y6L5	ENTREZGENE, UniProtKB/TrEMBL
	A0A2R8YDF3	ENTREZGENE, UniProtKB/TrEMBL
	A0A2R8YEY4_HUMAN	UniProtKB/TrEMBL
	DYR1A_HUMAN	UniProtKB/Swiss-Prot
	E7EMI5_HUMAN	UniProtKB/TrEMBL
	N0GVR9_HUMAN	UniProtKB/TrEMBL
	O60769	ENTREZGENE
	Q13627	ENTREZGENE
	Q92582	ENTREZGENE
	Q92810	ENTREZGENE
	Q9UNM5	ENTREZGENE
UniProt Secondary	O60769	UniProtKB/Swiss-Prot
	Q92582	UniProtKB/Swiss-Prot
	Q92810	UniProtKB/Swiss-Prot
	Q9UNM5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-16	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	DYRK1A	dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	Symbol and/or name change	5135510	APPROVED
2015-11-24	DYRK1A	dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	DYRK1A	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	Symbol and/or name change	5135510	APPROVED

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