ARID1A (AT-rich interaction domain 1A)

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Gene: ARID1A (AT-rich interaction domain 1A) Homo sapiens

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Symbol:

ARID1A

Name:

AT-rich interaction domain 1A

RGD ID:

1321437

HGNC Page

HGNC:11110

Description:

Enables DNA binding activity; nuclear receptor binding activity; and transcription coactivator activity. Involved in nucleosome disassembly and positive regulation of DNA-templated transcription. Located in chromatin and nucleoplasm. Part of SWI/SNF complex. Implicated in Coffin-Siris syndrome 2; breast cancer; carcinoma (multiple); gastrointestinal system cancer (multiple); and neuroblastoma. Biomarker of gastrointestinal system cancer (multiple); lung non-small cell carcinoma; and pre-eclampsia.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ARID domain-containing protein 1A; AT rich interactive domain 1A (SWI-like); AT-rich interactive domain-containing protein 1A; B120; BAF250; BAF250a; BM029; brain protein 120; BRG1-associated factor 250; BRG1-associated factor 250a; C1orf4; chromatin remodeling factor p250; CSS2; ELD; hELD; hOSA1; MRD14; osa homolog 1; OSA1; OSA1 nuclear protein; P270; SMARCF1; SWI-like protein; SWI/SNF complex protein p270; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1; SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Arid1a (AT-rich interaction domain 1A)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Arid1a (AT-rich interaction domain 1A)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Arid1a (AT-rich interaction domain 1A)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ARID1A (AT-rich interaction domain 1A)	NCBI	Ortholog
Canis lupus familiaris (dog):	ARID1A (AT-rich interaction domain 1A)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Arid1a (AT-rich interaction domain 1A)	NCBI	Ortholog
Sus scrofa (pig):	ARID1A (AT-rich interaction domain 1A)	HGNC	Ensembl, NCBI, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ARID1A (AT-rich interaction domain 1A)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Arid1a (AT-rich interaction domain 1A)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Arid1b (AT-rich interaction domain 1B)	HGNC	OrthoMCL
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Arid1a (AT-rich interaction domain 1A)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Arid1a (AT-rich interaction domain 1A)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	arid1aa (AT rich interactive domain 1Aa (SWI-like))	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	arid1ab (AT rich interactive domain 1Ab (SWI-like))	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	let-526	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	osa	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	arid1a	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	arid1a.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	arid1a.S	Alliance	DIOPT (Xenbase)

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	1	26,696,015 - 26,782,104 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	26,693,236 - 26,782,104 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	27,022,506 - 27,108,595 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	26,895,109 - 26,981,188 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	26,706,666 - 26,792,737	NCBI
Celera	1	25,419,777 - 25,505,606 (+)	NCBI		Celera
Cytogenetic Map	1	p36.11	NCBI
HuRef	1	25,309,350 - 25,361,809 (+)	NCBI		HuRef
CHM1_1	1	27,135,825 - 27,221,852 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	26,533,960 - 26,620,059 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Acute Hepatitis (ISO)

adenocarcinoma (EXP)

adenoid cystic carcinoma (EXP)

autism spectrum disorder (IAGP)

breast cancer (IMP)

Breast Neoplasms (EXP)

Burkitt lymphoma (EXP)

cerebellar hypoplasia (IAGP)

cholangiocarcinoma (EXP)

Coffin-Siris syndrome (EXP,IAGP,ISS)

Coffin-Siris syndrome 1 (IAGP)

Coffin-Siris syndrome 2 (IAGP)

colon adenocarcinoma (HEP)

colon cancer (IMP)

colorectal cancer (IAGP,IEP)

colorectal carcinoma (HEP)

Colorectal Neoplasms (EXP)

embryonal rhabdomyosarcoma (EXP)

endometrial adenocarcinoma (IMP)

endometrial cancer (HEP)

endometrial carcinoma (IAGP)

Endometrial Neoplasms (EXP)

epilepsy (IAGP)

esophagus adenocarcinoma (EXP,IEP)

Experimental Liver Neoplasms (ISO)

gastric adenocarcinoma (HEP,IEP)

genetic disease (IAGP)

hepatoblastoma (IAGP)

hepatocellular carcinoma (EXP,IEP,IMP,ISO)

Hydrops Fetalis (IAGP)

intellectual disability (IAGP)

intrahepatic cholangiocarcinoma (IEP)

Klatskin's tumor (IAGP)

lung non-small cell carcinoma (IAGP,IEP)

lung squamous cell carcinoma (HEP)

Marfanoid Mental Retardation Syndrome, Autosomal (IAGP)

medulloblastoma (IAGP)

microcephaly (IAGP)

Microsatellite Instability (EXP)

nasopharynx carcinoma (IEP)

Neoplasm Metastasis (ISO)

nephroblastoma (EXP)

neuroblastoma (EXP,IAGP)

Neurodevelopmental Disorders (IAGP)

non-functioning pancreatic endocrine tumor (HEP)

ovarian clear cell carcinoma (IMP)

ovary serous adenocarcinoma (IAGP)

pancreatic cancer (TAS)

periventricular leukomalacia (IAGP)

pre-eclampsia (IEP)

primary cutaneous T-cell non-Hodgkin lymphoma (EXP)

Prostatic Neoplasms (EXP)

retinitis pigmentosa 59 (IAGP)

septooptic dysplasia (IAGP)

Sezary's disease (EXP)

small intestine carcinoma (HEP)

stomach cancer (HEP,IAGP,IEP,IMP)

stomach carcinoma (HEP)

Stomach Neoplasms (EXP)

T-cell non-Hodgkin lymphoma (EXP)

transitional cell carcinoma (EXP)

urinary bladder cancer (EXP,IAGP)

Urinary Bladder Neoplasm (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

(S)-nicotine (ISO)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,2',5,5'-tetrachlorobiphenyl (ISO)

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

2,4,6-tribromophenol (EXP)

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

2-hydroxypropanoic acid (EXP)

3,3',5,5'-tetrabromobisphenol A (EXP)

4,4'-sulfonyldiphenol (ISO)

aflatoxin B1 (EXP)

aristolochic acid A (EXP)

arsenous acid (EXP)

benzo[a]pyrene diol epoxide I (EXP)

beta-lapachone (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

buta-1,3-diene (ISO)

butanal (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

choline (ISO)

cisplatin (EXP)

clofibrate (ISO)

cobalt dichloride (EXP)

coumarin (EXP)

crocidolite asbestos (EXP)

decabromodiphenyl ether (EXP)

diarsenic trioxide (EXP)

diazinon (EXP)

dicrotophos (EXP)

dioxygen (ISO)

diuron (EXP)

dorsomorphin (EXP)

enzyme inhibitor (EXP)

ethanol (ISO)

folic acid (ISO)

formaldehyde (EXP)

FR900359 (EXP)

fulvestrant (EXP)

furan (ISO)

gentamycin (ISO)

hexadecanoic acid (EXP)

indometacin (EXP)

inulin (ISO)

L-methionine (ISO)

Lasiocarpine (EXP)

mercury atom (EXP)

mercury(0) (EXP)

methamphetamine (ISO)

methidathion (ISO)

methotrexate (ISO)

methylmercury chloride (EXP)

monocrotaline (EXP)

nefazodone (ISO)

nicotine (ISO)

paracetamol (EXP,ISO)

PCB138 (ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP)

phenobarbital (ISO)

profenofos (ISO)

promegestone (EXP)

quercetin (EXP)

rac-lactic acid (EXP)

resveratrol (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

trichostatin A (EXP)

triphenyl phosphate (EXP)

Triptolide (ISO)

triptonide (ISO)

troglitazone (ISO)

tungsten (ISO)

valproic acid (EXP,ISO)

vinclozolin (ISO)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cardiac chamber development (ISO)

cardiac muscle cell differentiation (ISO)

chromatin organization (IEA,ISO)

chromatin remodeling (IDA,IEA,ISO,NAS)

embryo implantation (ISO)

forebrain development (ISO)

formation of primary germ layer (ISO)

gastrulation (ISO)

negative regulation of transcription by RNA polymerase II (ISO)

nervous system development (IEA)

neural tube closure (ISO)

nucleosome disassembly (IDA)

optic cup formation involved in camera-type eye development (ISO)

placenta blood vessel development (ISO)

positive regulation of cell differentiation (NAS)

positive regulation of DNA-templated transcription (IBA,IDA)

positive regulation of double-strand break repair (NAS)

positive regulation of myoblast differentiation (NAS)

positive regulation of stem cell population maintenance (NAS)

positive regulation of T cell differentiation (NAS)

regulation of G0 to G1 transition (NAS)

regulation of G1/S transition of mitotic cell cycle (NAS)

regulation of mitotic metaphase/anaphase transition (NAS)

regulation of nucleotide-excision repair (NAS)

regulation of transcription by RNA polymerase II (IBA,NAS)

stem cell population maintenance (ISO)

transcription initiation-coupled chromatin remodeling (TAS)

Cellular Component

bBAF complex (NAS)

brahma complex (IEA,NAS)

chromatin (IDA,NAS)

nBAF complex (IBA,ISS,NAS)

npBAF complex (ISS,NAS)

nucleoplasm (IBA,IDA,TAS)

nucleus (IEA,TAS)

SWI/SNF complex (IBA,IDA,IEA,NAS)

Molecular Function

ATP-dependent chromatin remodeler activity (ISO)

DNA binding (IDA,IEA,NAS)

nuclear receptor binding (IPI)

nucleosome binding (IBA)

protein binding (IPI)

transcription coactivator activity (IDA,NAS)

Molecular Pathway Annotations Click to see Annotation Detail View

altered SWI/SNF family mediated chromatin remodeling pathway (TAS)

pancreatic cancer pathway (TAS)

SWI/SNF family mediated chromatin remodeling pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal corpus callosum morphology (IAGP)

Abnormal facial shape (IAGP)

Abnormal heart morphology (IAGP)

Abnormal pinna morphology (IAGP)

Abnormality of the genitourinary system (IAGP)

Absent fifth fingernail (IAGP)

Absent fifth toenail (IAGP)

Absent speech (IAGP)

Agenesis of corpus callosum (IAGP)

Aggressive behavior (IAGP)

Anteverted nares (IAGP)

Aspiration pneumonia (IAGP)

Atrial septal defect (IAGP)

Atypical behavior (IAGP)

Autistic behavior (IAGP)

Autosomal dominant inheritance (IAGP)

Bladder neoplasm (IAGP)

Brachydactyly (IAGP)

Broad nasal tip (IAGP)

Broad philtrum (IAGP)

Cerebellar hypoplasia (IAGP)

Cleft palate (IAGP)

Clinodactyly (IAGP)

Coarse facial features (IAGP)

Colon cancer (IAGP)

Cryptorchidism (IAGP)

Dandy-Walker malformation (IAGP)

Delayed eruption of teeth (IAGP)

Delayed skeletal maturation (IAGP)

Delayed speech and language development (IAGP)

Depressed nasal bridge (IAGP)

Endometrial carcinoma (IAGP)

Feeding difficulties (IAGP)

Global developmental delay (IAGP)

Growth delay (IAGP)

Hearing impairment (IAGP)

Hepatoblastoma (IAGP)

Hepatocellular carcinoma (IAGP)

Hernia (IAGP)

High palate (IAGP)

Hirsutism (IAGP)

Horseshoe kidney (IAGP)

Hyperactivity (IAGP)

Hypertrichosis (IAGP)

Hypoplastic fifth fingernail (IAGP)

Hypoplastic fifth toenail (IAGP)

Hypospadias (IAGP)

Hypotonia (IAGP)

Infantile muscular hypotonia (IAGP)

Inguinal hernia (IAGP)

Intellectual disability (IAGP)

Intellectual disability, moderate (IAGP)

Intellectual disability, severe (IAGP)

Intrauterine growth retardation (IAGP)

Joint hypermobility (IAGP)

Long eyelashes (IAGP)

Long philtrum (IAGP)

Low anterior hairline (IAGP)

Macroglossia (IAGP)

Medulloblastoma (IAGP)

Microcephaly (IAGP)

Myopia (IAGP)

Neoplasm of the lung (IAGP)

Neurodevelopmental delay (IAGP)

Nonimmune hydrops fetalis (IAGP)

Oral aversion (IAGP)

Papillary thyroid carcinoma (IAGP)

Patent ductus arteriosus (IAGP)

Periventricular leukomalacia (IAGP)

Poor suck (IAGP)

Postnatal growth retardation (IAGP)

Prominent eyelashes (IAGP)

Ptosis (IAGP)

Recurrent infections (IAGP)

Recurrent upper respiratory tract infections (IAGP)

Sandal gap (IAGP)

Scoliosis (IAGP)

Seizure (IAGP)

Septo-optic dysplasia (IAGP)

Severe global developmental delay (IAGP)

Short 5th finger (IAGP)

Short distal phalanx of finger (IAGP)

Short nose (IAGP)

Short philtrum (IAGP)

Short stature (IAGP)

Simplified gyral pattern (IAGP)

Small nail (IAGP)

Sparse scalp hair (IAGP)

Strabismus (IAGP)

Tetralogy of Fallot (IAGP)

Thick eyebrow (IAGP)

Thick lower lip vermilion (IAGP)

Thick nasal alae (IAGP)

Thick vermilion border (IAGP)

Thin upper lip vermilion (IAGP)

Ventricular septal defect (IAGP)

Visual impairment (IAGP)

Wide mouth (IAGP)

Wide nasal base (IAGP)

Wide nose (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ARID1A expression loss in gastric cancer: pathway-dependent roles with and without Epstein-Barr virus infection and microsatellite instability.	Abe H, etal., Virchows Arch. 2012 Oct;461(4):367-77. doi: 10.1007/s00428-012-1303-2. Epub 2012 Aug 23.
2.	ARID1A loss correlates with mismatch repair deficiency and intact p53 expression in high-grade endometrial carcinomas.	Allo G, etal., Mod Pathol. 2014 Feb;27(2):255-61. doi: 10.1038/modpathol.2013.144. Epub 2013 Jul 26.
3.	Loss of ARID1A, ARID1B, and ARID2 Expression During Progression of Gastric Cancer.	Aso T, etal., Anticancer Res. 2015 Dec;35(12):6819-27.
4.	High Beclin-1 and ARID1A expression corelates with poor survival and high recurrence in intrahepatic cholangiocarcinoma: a histopathological retrospective study.	Bi C, etal., BMC Cancer. 2019 Mar 8;19(1):213. doi: 10.1186/s12885-019-5429-3.
5.	Loss of ARID1A expression in colorectal carcinoma is strongly associated with mismatch repair deficiency.	Chou A, etal., Hum Pathol. 2014 Aug;45(8):1697-703. doi: 10.1016/j.humpath.2014.04.009. Epub 2014 Apr 24.
6.	Hepatocyte-Specific Arid1a Deficiency Initiates Mouse Steatohepatitis and Hepatocellular Carcinoma.	Fang JZ, etal., PLoS One. 2015 Nov 16;10(11):e0143042. doi: 10.1371/journal.pone.0143042. eCollection 2015.
7.	AT-rich interactive domain 1A protein expression in normal and pathological pregnancies complicated by preeclampsia.	Fantone S, etal., Histochem Cell Biol. 2020 Sep;154(3):339-346. doi: 10.1007/s00418-020-01892-8. Epub 2020 Jun 11.
8.	Comprehensive analysis of genomic alterations of Chinese hilar cholangiocarcinoma patients.	Feng F, etal., Int J Clin Oncol. 2021 Apr;26(4):717-727. doi: 10.1007/s10147-020-01846-z. Epub 2021 Jan 2.
9.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
10.	ARID1A, a factor that promotes formation of SWI/SNF-mediated chromatin remodeling, is a tumor suppressor in gynecologic cancers.	Guan B, etal., Cancer Res. 2011 Nov 1;71(21):6718-27. doi: 10.1158/0008-5472.CAN-11-1562. Epub 2011 Sep 7.
11.	Loss of ARID1A Expression is Related to Gastric Cancer Progression, Epstein-Barr Virus Infection, and Mismatch Repair Deficiency.	Han N, etal., Appl Immunohistochem Mol Morphol. 2016 May-Jun;24(5):320-5. doi: 10.1097/PAI.0000000000000199.
12.	Aberration of ARID1A Is Associated With the Tumorigenesis and Prognosis of Sporadic Nonfunctional Pancreatic Neuroendocrine Tumors.	Han X, etal., Pancreas. 2020 Apr;49(4):514-523. doi: 10.1097/MPA.0000000000001535.
13.	ATP-dependent chromatin remodeling: genetics, genomics and mechanisms.	Hargreaves DC and Crabtree GR, Cell Res. 2011 Mar;21(3):396-420. doi: 10.1038/cr.2011.32. Epub 2011 Mar 1.
14.	Decreased expression of ARID1A associates with poor prognosis and promotes metastases of hepatocellular carcinoma.	He F, etal., J Exp Clin Cancer Res. 2015 May 15;34:47. doi: 10.1186/s13046-015-0164-3.
15.	Arid1a regulates response to anti-angiogenic therapy in advanced hepatocellular carcinoma.	Hu C, etal., J Hepatol. 2018 Mar;68(3):465-475. doi: 10.1016/j.jhep.2017.10.028. Epub 2017 Nov 4.
16.	ARID1A expression in gastric adenocarcinoma: clinicopathological significance and correlation with DNA mismatch repair status.	Inada R, etal., World J Gastroenterol. 2015 Feb 21;21(7):2159-68. doi: 10.3748/wjg.v21.i7.2159.
17.	Loss of ARID1A expression is associated with poor prognosis in non-small cell lung cancer.	Jang SH, etal., Pathol Res Pract. 2020 Nov;216(11):153156. doi: 10.1016/j.prp.2020.153156. Epub 2020 Aug 8.
18.	Loss of ARID1A Expression in Gastric Cancer: Correlation with Mismatch Repair Deficiency and Clinicopathologic Features.	Kim KJ, etal., J Gastric Cancer. 2015 Sep;15(3):201-8. doi: 10.5230/jgc.2015.15.3.201. Epub 2015 Sep 30.
19.	Loss of ARID1A expression is associated with poor prognosis in small intestinal carcinoma.	Kim MJ, etal., Histopathology. 2015 Mar;66(4):508-16. doi: 10.1111/his.12566. Epub 2015 Jan 12.
20.	Functional loss of ARID1A is tightly associated with high PD-L1 expression in gastric cancer.	Kim YB, etal., Int J Cancer. 2019 Aug 15;145(4):916-926. doi: 10.1002/ijc.32140. Epub 2019 Feb 8.
21.	Associations Between Loss of ARID1A Expression and Clinicopathologic and Genetic Variables in T1 Early Colorectal Cancer.	Kishida Y, etal., Am J Clin Pathol. 2019 Sep 9;152(4):463-470. doi: 10.1093/ajcp/aqz062.
22.	ARID1A expression in early stage colorectal adenocarcinoma: an exploration of its prognostic significance.	Lee LH, etal., Hum Pathol. 2016 Jul;53:97-104. doi: 10.1016/j.humpath.2016.02.004. Epub 2016 Mar 2.
23.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
24.	AT-rich Interaction Domain 1A Gene Variations: Genetic Associations and Susceptibility to Gastric Cancer Risk.	Qadir J, etal., Pathol Oncol Res. 2020 Oct;26(4):2237-2246. doi: 10.1007/s12253-020-00815-1. Epub 2020 May 6.
25.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
26.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
27.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
28.	Heterogeneity of ARID1A expression in gastric cancer may affect patient survival and therapeutic efficacy.	Saito M, etal., Hum Pathol. 2020 Jul;101:80-81. doi: 10.1016/j.humpath.2020.04.009. Epub 2020 May 7.
29.	Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma.	Sausen M, etal., Nat Genet. 2013 Jan;45(1):12-7. doi: 10.1038/ng.2493. Epub 2012 Dec 2.
30.	Loss of the SWI/SNF-ATPase subunit members SMARCF1 (ARID1A), SMARCA2 (BRM), SMARCA4 (BRG1) and SMARCB1 (INI1) in oesophageal adenocarcinoma.	Schallenberg S, etal., BMC Cancer. 2020 Jan 6;20(1):12. doi: 10.1186/s12885-019-6425-3.
31.	The spectrum of SWI/SNF mutations, ubiquitous in human cancers.	Shain AH and Pollack JR, PLoS One. 2013;8(1):e55119. doi: 10.1371/journal.pone.0055119. Epub 2013 Jan 23.
32.	ARID1A Deficiency Impairs the DNA Damage Checkpoint and Sensitizes Cells to PARP Inhibitors.	Shen J, etal., Cancer Discov. 2015 Jul;5(7):752-67. doi: 10.1158/2159-8290.CD-14-0849. Epub 2015 Jun 11.
33.	Subunits of ARID1 serve as novel biomarkers for the sensitivity to immune checkpoint inhibitors and prognosis of advanced non-small cell lung cancer.	Sun D, etal., Mol Med. 2020 Aug 13;26(1):78. doi: 10.1186/s10020-020-00208-9.
34.	Arid1a Has Context-Dependent Oncogenic and Tumor Suppressor Functions in Liver Cancer.	Sun X, etal., Cancer Cell. 2017 Nov 13;32(5):574-589.e6. doi: 10.1016/j.ccell.2017.10.007.
35.	Decreased expression of the ARID1A gene is associated with poor prognosis in primary gastric cancer.	Wang DD, etal., PLoS One. 2012;7(7):e40364. doi: 10.1371/journal.pone.0040364. Epub 2012 Jul 13.
36.	Clinicopathologic and prognostic relevance of ARID1A protein loss in colorectal cancer.	Wei XL, etal., World J Gastroenterol. 2014 Dec 28;20(48):18404-12. doi: 10.3748/wjg.v20.i48.18404.
37.	ARID1A/BAF250a as a prognostic marker for gastric carcinoma: a study of 2 cohorts.	Wiegand KC, etal., Hum Pathol. 2014 Jun;45(6):1258-68. doi: 10.1016/j.humpath.2014.02.006. Epub 2014 Feb 20.
38.	Reduced expression of the chromatin remodeling gene ARID1A enhances gastric cancer cell migration and invasion via downregulation of E-cadherin transcription.	Yan HB, etal., Carcinogenesis. 2014 Apr;35(4):867-76. doi: 10.1093/carcin/bgt398. Epub 2013 Nov 30.
39.	NF-κB/miR-223-3p/ARID1A axis is involved in Helicobacter pylori CagA-induced gastric carcinogenesis and progression.	Yang F, etal., Cell Death Dis. 2018 Jan 9;9(1):12. doi: 10.1038/s41419-017-0020-9.
40.	Low expression of ARID1A correlates with poor prognosis in intrahepatic cholangiocarcinoma.	Yang SZ, etal., World J Gastroenterol. 2016 Jul 7;22(25):5814-21. doi: 10.3748/wjg.v22.i25.5814.
41.	Loss of ARID1A promotes proliferation, migration and invasion via the Akt signaling pathway in NPC.	Yang Y, etal., Cancer Manag Res. 2019 May 29;11:4931-4946. doi: 10.2147/CMAR.S207329. eCollection 2019.
42.	Loss of ARID1A induces a stemness gene ALDH1A1 expression with histone acetylation in the malignant subtype of cholangiocarcinoma.	Yoshino J, etal., Carcinogenesis. 2020 Jul 10;41(6):734-742. doi: 10.1093/carcin/bgz179.
43.	Chromatin remodeling gene AT-rich interactive domain-containing protein 1A suppresses gastric cancer cell proliferation by targeting PIK3CA and PDK1.	Zhang Q, etal., Oncotarget. 2016 Jul 19;7(29):46127-46141. doi: 10.18632/oncotarget.10060.
44.	[Expression and clinical significance of ARID1A in gastric cancer and paired adjacent noncancerous tissues].	Zhang X, etal., Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2017 Jan;33(1):77-80.
45.	ARID1A is downregulated in non-small cell lung cancer and regulates cell proliferation and apoptosis.	Zhang Y, etal., Tumour Biol. 2014 Jun;35(6):5701-7. doi: 10.1007/s13277-014-1755-x. Epub 2014 Feb 26.
46.	The Clinicopathologic Significance of BAF250a (ARID1A) Expression in Hepatocellular Carcinoma.	Zhao J, etal., Pathol Oncol Res. 2016 Jul;22(3):453-9. doi: 10.1007/s12253-015-0022-9. Epub 2015 Nov 20.
47.	Expression and significance of EBV, ARID1A and PIK3CA in gastric carcinoma.	Zhou H, etal., Mol Med Rep. 2019 Mar;19(3):2125-2136. doi: 10.3892/mmr.2019.9886. Epub 2019 Jan 22.
48.	Loss of ARID1A expression is associated with poor prognosis in patients with gastric cancer.	Zhu YP, etal., Hum Pathol. 2018 Aug;78:28-35. doi: 10.1016/j.humpath.2018.04.003. Epub 2018 Apr 22.

Additional References at PubMed

PMID:8125298	PMID:8804307	PMID:8895581	PMID:9434167	PMID:9584200	PMID:9630625	PMID:9845365	PMID:10078207	PMID:10757798	PMID:10778858	PMID:11018012	PMID:11073988
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PMID:20942669	PMID:21145461	PMID:21237226	PMID:21412130	PMID:21532573	PMID:21873635	PMID:21889920	PMID:21892209	PMID:22009941	PMID:22037554	PMID:22101352	PMID:22157930
PMID:22193641	PMID:22274316	PMID:22301703	PMID:22426308	PMID:22484628	PMID:22586326	PMID:22653341	PMID:22658674	PMID:22910690	PMID:22939629	PMID:22939958	PMID:22976498
PMID:22990118	PMID:23030592	PMID:23080032	PMID:23097632	PMID:23129809	PMID:23232571	PMID:23318448	PMID:23349767	PMID:23416164	PMID:23427874	PMID:23524907	PMID:23540691
PMID:23556151	PMID:23650517	PMID:23667531	PMID:23698369	PMID:23702729	PMID:23906836	PMID:23929686	PMID:24036443	PMID:24076775	PMID:24185509	PMID:24241536	PMID:24255178
PMID:24336158	PMID:24382590	PMID:24430365	PMID:24435047	PMID:24457600	PMID:24557437	PMID:24562383	PMID:24618703	PMID:24788099	PMID:24793973	PMID:24944491	PMID:24981860
PMID:24999758	PMID:25066234	PMID:25081545	PMID:25083560	PMID:25168959	PMID:25175170	PMID:25195947	PMID:25293959	PMID:25311944	PMID:25452129	PMID:25503393	PMID:25557364
PMID:25628030	PMID:25737280	PMID:25744580	PMID:25757668	PMID:25776029	PMID:25796446	PMID:25912412	PMID:25913291	PMID:26045782	PMID:26138514	PMID:26186194	PMID:26279473
PMID:26303865	PMID:26334097	PMID:26344197	PMID:26378916	PMID:26384299	PMID:26400522	PMID:26446488	PMID:26496610	PMID:26572704	PMID:26614907	PMID:26716708	PMID:26826411
PMID:26832958	PMID:26904685	PMID:26912792	PMID:26945423	PMID:26953344	PMID:26960408	PMID:27051059	PMID:27137986	PMID:27172896	PMID:27248496	PMID:27334809	PMID:27340867
PMID:27354232	PMID:27387124	PMID:27453043	PMID:27486766	PMID:27520487	PMID:27528032	PMID:27562491	PMID:27572311	PMID:27634302	PMID:27637333	PMID:27684187	PMID:27716508
PMID:27880917	PMID:27906199	PMID:28068325	PMID:28242625	PMID:28296015	PMID:28319113	PMID:28440661	PMID:28466574	PMID:28481362	PMID:28483516	PMID:28514442	PMID:28533407
PMID:28543794	PMID:28611094	PMID:28611215	PMID:28716731	PMID:28737768	PMID:28794006	PMID:28813667	PMID:28863077	PMID:28937020	PMID:28942102	PMID:28942143	PMID:28967863
PMID:28977666	PMID:29073615	PMID:29117863	PMID:29170871	PMID:29177569	PMID:29374058	PMID:29392887	PMID:29395067	PMID:29451900	PMID:29467282	PMID:29486633	PMID:29500370
PMID:29507755	PMID:29547736	PMID:29656893	PMID:29660381	PMID:29730444	PMID:29736026	PMID:29740198	PMID:29760405	PMID:29767248	PMID:29890703	PMID:29911972	PMID:29949775
PMID:29980791	PMID:30021884	PMID:30097580	PMID:30292665	PMID:30307988	PMID:30358215	PMID:30381262	PMID:30459231	PMID:30467048	PMID:30520820	PMID:30554943	PMID:30686591
PMID:30787326	PMID:30804502	PMID:30851247	PMID:30890647	PMID:30962207	PMID:31043422	PMID:31043675	PMID:31048545	PMID:31091453	PMID:31131328	PMID:31182584	PMID:31210753
PMID:31217031	PMID:31237034	PMID:31277418	PMID:31365169	PMID:31391455	PMID:31392992	PMID:31424966	PMID:31492885	PMID:31586073	PMID:31655170	PMID:31704366	PMID:31753913
PMID:31759698	PMID:31831874	PMID:31891283	PMID:31912865	PMID:31913196	PMID:31913353	PMID:31914402	PMID:31932695	PMID:31982538	PMID:32015157	PMID:32027624	PMID:32334542
PMID:32344865	PMID:32483112	PMID:32486536	PMID:32554706	PMID:32572156	PMID:32639175	PMID:32646524	PMID:32687490	PMID:32789692	PMID:32858102	PMID:32868822	PMID:32878261
PMID:32888375	PMID:32971831	PMID:33000179	PMID:33052929	PMID:33080474	PMID:33084574	PMID:33143664	PMID:33144569	PMID:33158812	PMID:33196828	PMID:33226137	PMID:33290750
PMID:33327223	PMID:33414133	PMID:33432679	PMID:33481850	PMID:33541386	PMID:33558447	PMID:33592583	PMID:33637726	PMID:33640491	PMID:33675830	PMID:33706098	PMID:33769075
PMID:33826602	PMID:33890484	PMID:33961781	PMID:34042312	PMID:34044070	PMID:34063990	PMID:34070839	PMID:34079125	PMID:34108663	PMID:34109546	PMID:34189442	PMID:34244565
PMID:34255312	PMID:34257552	PMID:34272091	PMID:34289576	PMID:34315543	PMID:34386776	PMID:34414664	PMID:34424445	PMID:34429326	PMID:34469459	PMID:34493171	PMID:34512623
PMID:34548333	PMID:34551306	PMID:34585037	PMID:34591612	PMID:34645806	PMID:34697060	PMID:34702444	PMID:34715776	PMID:34857952	PMID:34897700	PMID:34941867	PMID:34987057
PMID:34994156	PMID:34997313	PMID:35013218	PMID:35016035	PMID:35028302	PMID:35038591	PMID:35131383	PMID:35140242	PMID:35167193	PMID:35182466	PMID:35210568	PMID:35235311
PMID:35236967	PMID:35271311	PMID:35294647	PMID:35320351	PMID:35353340	PMID:35390516	PMID:35439318	PMID:35559673	PMID:35575683	PMID:35647895	PMID:35661724	PMID:35715442
PMID:35748872	PMID:35750014	PMID:35785414	PMID:35831314	PMID:35852858	PMID:35914814	PMID:35945219	PMID:35964817	PMID:36044839	PMID:36082022	PMID:36114006	PMID:36117191
PMID:36153585	PMID:36199183	PMID:36215168	PMID:36252860	PMID:36344675	PMID:36348021	PMID:36373674	PMID:36420658	PMID:36435834	PMID:36452965	PMID:36464671	PMID:36517590
PMID:36688959	PMID:36853791	PMID:36882165	PMID:36918265	PMID:36931659	PMID:37014148	PMID:37028423	PMID:37071682	PMID:37142816	PMID:37179132	PMID:37357968	PMID:37433992
PMID:37434394	PMID:37689310	PMID:37827155	PMID:37906351	PMID:37939712	PMID:38017109	PMID:38071325	PMID:38100120	PMID:38166741	PMID:38223760	PMID:38275587	PMID:38280479
PMID:38297188	PMID:38358891	PMID:38358974	PMID:38457226	PMID:38458187	PMID:38489371	PMID:38508586	PMID:38580884	PMID:38587186	PMID:38600891	PMID:38697112	PMID:38740655
PMID:38754421	PMID:38858765	PMID:38873993	PMID:38943005	PMID:39228255

Genomics

Comparative Map Data

ARID1A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	26,696,015 - 26,782,104 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	26,693,236 - 26,782,104 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	27,022,506 - 27,108,595 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	26,895,109 - 26,981,188 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	26,706,666 - 26,792,737	NCBI
Celera	1	25,419,777 - 25,505,606 (+)	NCBI		Celera
Cytogenetic Map	1	p36.11	NCBI
HuRef	1	25,309,350 - 25,361,809 (+)	NCBI		HuRef
CHM1_1	1	27,135,825 - 27,221,852 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	26,533,960 - 26,620,059 (+)	NCBI		T2T-CHM13v2.0

Arid1a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	133,406,319 - 133,484,682 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	133,406,319 - 133,484,080 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	133,679,008 - 133,756,769 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	133,679,008 - 133,756,769 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	133,234,923 - 133,309,526 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	132,951,084 - 133,029,633 (-)	NCBI		MGSCv36	mm8
Celera	4	131,854,780 - 131,931,113 (-)	NCBI		Celera
Cytogenetic Map	4	D2.3	NCBI
cM Map	4	66.25	NCBI

Arid1a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	151,192,014 - 151,269,291 (-)	NCBI		GRCr8
mRatBN7.2	5	145,908,173 - 145,981,552 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	145,908,181 - 145,985,564 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	148,610,576 - 148,683,764 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	150,380,181 - 150,453,373 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	150,366,738 - 150,439,933 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	151,904,687 - 151,977,973 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	151,904,684 - 151,977,636 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	155,592,617 - 155,665,889 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	151,355,617 - 151,398,647 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	151,335,330 - 151,408,688 (+)	NCBI
Celera	5	144,329,185 - 144,372,216 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Arid1a
(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_004955452	6,068,631 - 6,120,759 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955452	6,068,631 - 6,120,759 (+)	NCBI	ChiLan1.0	ChiLan1.0

ARID1A
(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	1	200,085,631 - 200,171,818 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	199,189,927 - 199,276,131 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	25,960,868 - 26,047,057 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	27,019,596 - 27,103,239 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	27,018,616 - 27,103,239 (+)	Ensembl	panpan1.1		panPan2

ARID1A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	73,331,606 - 73,401,151 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	73,324,852 - 73,401,102 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	69,909,026 - 69,978,542 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	73,894,794 - 73,964,327 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	73,895,984 - 73,965,235 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	70,719,680 - 70,789,191 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	71,725,226 - 71,794,735 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	72,728,646 - 72,798,165 (-)	NCBI		UU_Cfam_GSD_1.0

Arid1a
(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_024405058	45,325,365 - 45,372,530 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936474	11,148,857 - 11,197,312 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ARID1A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	84,049,087 - 84,123,349 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	84,049,729 - 84,124,302 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	77,607,507 - 77,623,800 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ARID1A
(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	20	105,981,549 - 106,066,093 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	105,981,290 - 106,065,672 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	10,365,063 - 10,448,898 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Arid1a
(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_004624764	10,672,735 - 10,759,634 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624764	10,672,673 - 10,759,634 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ARID1A
1167 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs)	deletion	Coffin-Siris syndrome 1 [RCV003314556]\|Intellectual disability, autosomal dominant 14 [RCV000023227]\|not provided [RCV000480869]	Chr1:26696422..26696447 [GRCh38] Chr1:27022913..27022938 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe)	single nucleotide variant	Coffin-Siris syndrome 1 [RCV001788274]\|Intellectual disability, autosomal dominant 14 [RCV001262248]\|not provided [RCV000522380]	Chr1:26767834 [GRCh38] Chr1:27094325 [GRCh37] Chr1:1p36.11	likely pathogenic\|uncertain significance
NM_006015.6(ARID1A):c.114GGC[4] (p.Ala45del)	microsatellite	not provided [RCV000722562]	Chr1:26696517..26696519 [GRCh38] Chr1:27023008..27023010 [GRCh37] Chr1:1p36.11	pathogenic\|uncertain significance
NM_006015.6(ARID1A):c.3948_3950delinsCTAGGA (p.Gly1317Ter)	indel	not provided [RCV000520639]	Chr1:26773661..26773663 [GRCh38] Chr1:27100152..27100154 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.2758C>T (p.Gln920Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV000023228]	Chr1:26766246 [GRCh38] Chr1:27092737 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter)	single nucleotide variant	Coffin-Siris syndrome 1 [RCV000856779]\|Intellectual disability, autosomal dominant 14 [RCV000023229]	Chr1:26773716 [GRCh38] Chr1:27100207 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.4(ARID1A):c.6316C>A (p.Leu2106Met)	single nucleotide variant	Malignant melanoma [RCV000060167]	Chr1:26780214 [GRCh38] Chr1:27106705 [GRCh37] Chr1:26979292 [NCBI36] Chr1:1p36.11	not provided
NM_006015.4(ARID1A):c.1867G>T (p.Gly623Ter)	single nucleotide variant	Malignant melanoma [RCV000064692]	Chr1:26732739 [GRCh38] Chr1:27059230 [GRCh37] Chr1:26931817 [NCBI36] Chr1:1p36.11	not provided
NM_006015.4(ARID1A):c.4198C>T (p.Pro1400Ser)	single nucleotide variant	Malignant melanoma [RCV000064693]	Chr1:26774425 [GRCh38] Chr1:27100916 [GRCh37] Chr1:26973503 [NCBI36] Chr1:1p36.11	not provided
NM_006015.6(ARID1A):c.3524C>T (p.Pro1175Leu)	single nucleotide variant	not provided [RCV001582591]\|not specified [RCV000120060]	Chr1:26772617 [GRCh38] Chr1:27099108 [GRCh37] Chr1:1p36.11	likely benign\|conflicting interpretations of pathogenicity\|not provided
NM_006015.6(ARID1A):c.3967C>T (p.Arg1323Cys)	single nucleotide variant	ARID1A-related disorder [RCV004745198]\|not provided [RCV001575617]\|not specified [RCV000120061]	Chr1:26773680 [GRCh38] Chr1:27100171 [GRCh37] Chr1:1p36.11	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_006015.6(ARID1A):c.4304A>G (p.Tyr1435Cys)	single nucleotide variant	not provided [RCV001657755]\|not specified [RCV000120062]	Chr1:26774531 [GRCh38] Chr1:27101022 [GRCh37] Chr1:1p36.11	benign\|not provided
NM_006015.6(ARID1A):c.4615G>T (p.Ala1539Ser)	single nucleotide variant	not provided [RCV001854594]\|not specified [RCV000120063]	Chr1:26774842 [GRCh38] Chr1:27101333 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance\|not provided
NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly)	single nucleotide variant	ARID1A-related disorder [RCV003935136]\|Intellectual disability, autosomal dominant 14 [RCV002259634]\|not provided [RCV001636678]\|not specified [RCV000120064]	Chr1:26779234 [GRCh38] Chr1:27105725 [GRCh37] Chr1:1p36.11	benign\|likely benign\|not provided
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln)	single nucleotide variant	ARID1A-related disorder [RCV003925169]\|Intellectual disability, autosomal dominant 14 [RCV002259635]\|not provided [RCV000514601]\|not specified [RCV000120065]	Chr1:26779615 [GRCh38] Chr1:27106106 [GRCh37] Chr1:1p36.11	benign\|likely benign\|not provided
NM_006015.6(ARID1A):c.5791G>C (p.Glu1931Gln)	single nucleotide variant	not specified [RCV000120066]	Chr1:26779689 [GRCh38] Chr1:27106180 [GRCh37] Chr1:1p36.11	not provided
NM_006015.6(ARID1A):c.5248T>A (p.Phe1750Ile)	single nucleotide variant	not specified [RCV000120067]	Chr1:26779146 [GRCh38] Chr1:27105637 [GRCh37] Chr1:1p36.11	not provided
NM_006015.6(ARID1A):c.5318T>C (p.Leu1773Pro)	single nucleotide variant	not specified [RCV000120068]	Chr1:26779216 [GRCh38] Chr1:27105707 [GRCh37] Chr1:1p36.11	not provided
NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002259636]\|not provided [RCV000224299]\|not specified [RCV000120069]	Chr1:26761058 [GRCh38] Chr1:27087549 [GRCh37] Chr1:1p36.11	benign\|likely benign\|not provided
NM_006015.6(ARID1A):c.114GGC[6] (p.Ala45dup)	microsatellite	Intellectual disability, autosomal dominant 14 [RCV002259599]\|not provided [RCV000946455]\|not specified [RCV000114252]	Chr1:26696516..26696517 [GRCh38] Chr1:27023007..27023008 [GRCh37] Chr1:1p36.11	benign\|likely benign\|uncertain significance
NM_006015.6(ARID1A):c.5001G>A (p.Pro1667=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002259600]\|not provided [RCV000884379]\|not specified [RCV000114253]	Chr1:26775584 [GRCh38] Chr1:27102075 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.5114A>G (p.Asn1705Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002259601]\|not provided [RCV000967911]\|not specified [RCV000114254]	Chr1:26775697 [GRCh38] Chr1:27102188 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.3061A>G (p.Lys1021Glu)	single nucleotide variant	Coffin-Siris syndrome [RCV001251896]	Chr1:26767862 [GRCh38] Chr1:27094353 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.4234C>G (p.Pro1412Ala)	single nucleotide variant	not provided [RCV003221532]	Chr1:26774461 [GRCh38] Chr1:27100952 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4689del (p.Pro1563_Met1564insTer)	deletion	Colorectal cancer [RCV001293813]	Chr1:26774911 [GRCh38] Chr1:27101402 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.1849T>C (p.Ser617Pro)	single nucleotide variant	not provided [RCV003221700]	Chr1:26732721 [GRCh38] Chr1:27059212 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5965C>T (p.Arg1989Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV000211084]\|not provided [RCV004719761]	Chr1:26779863 [GRCh38] Chr1:27106354 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002259732]\|not provided [RCV000890429]\|not specified [RCV000193475]	Chr1:26780484 [GRCh38] Chr1:27106975 [GRCh37] Chr1:1p36.11	benign\|likely benign\|uncertain significance
NM_006015.6(ARID1A):c.4631C>T (p.Ser1544Leu)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001333481]	Chr1:26774858 [GRCh38] Chr1:27101349 [GRCh37] Chr1:1p36.11	uncertain significance
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	copy number gain	See cases [RCV000138891]	Chr1:24381206..41401517 [GRCh38] Chr1:24707696..41886350 [GRCh37] Chr1:24580283..41658937 [NCBI36] Chr1:1p36.11-34.2	pathogenic
NM_006015.6(ARID1A):c.1329C>T (p.Gly443=)	single nucleotide variant	not provided [RCV002517912]\|not specified [RCV000194282]	Chr1:26729842 [GRCh38] Chr1:27056333 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.394del (p.Val132fs)	deletion	Intellectual disability, autosomal dominant 14 [RCV000193411]	Chr1:26696794 [GRCh38] Chr1:27023285 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV000194434]	Chr1:26779036 [GRCh38] Chr1:27105527 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.5779G>C (p.Ala1927Pro)	single nucleotide variant	ARID1A-related disorder [RCV003895241]\|not provided [RCV000955690]\|not specified [RCV000192470]	Chr1:26779677 [GRCh38] Chr1:27106168 [GRCh37] Chr1:1p36.11	benign\|likely benign\|uncertain significance
NM_006015.4(ARID1A):c.31_56del26 (p.Ser11Alafs)	deletion	Mental retardation, autosomal dominant 14 [RCV000195000]	Chr1:26696434..26696459 [GRCh38] Chr1:27022925..27022950 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.1113del (p.Gln372fs)	deletion	Intellectual disability, autosomal dominant 14 [RCV000211061]	Chr1:26697511 [GRCh38] Chr1:27024002 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.3679G>T (p.Glu1227Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV000211078]	Chr1:26772951 [GRCh38] Chr1:27099442 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys)	single nucleotide variant	Inborn genetic diseases [RCV000210642]\|Intellectual disability [RCV001260884]\|Intellectual disability, autosomal dominant 14 [RCV003444021]\|not provided [RCV001762456]	Chr1:26780130 [GRCh38] Chr1:27106621 [GRCh37] Chr1:1p36.11	likely pathogenic\|uncertain significance
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup)	microsatellite	Intellectual disability, autosomal dominant 14 [RCV000599890]\|not provided [RCV000224658]\|not specified [RCV001727642]	Chr1:26773690..26773691 [GRCh38] Chr1:27100181..27100182 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.6267A>C (p.Leu2089=)	single nucleotide variant	not provided [RCV000487594]	Chr1:26780165 [GRCh38] Chr1:27106656 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2988+1G>A	single nucleotide variant	not provided [RCV000305102]	Chr1:26766567 [GRCh38] Chr1:27093058 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.5542G>T (p.Gly1848Trp)	single nucleotide variant	not provided [RCV001564840]\|not specified [RCV000279908]	Chr1:26779440 [GRCh38] Chr1:27105931 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1175C>A (p.Pro392His)	single nucleotide variant	not provided [RCV000349698]	Chr1:26729688 [GRCh38] Chr1:27056179 [GRCh37] Chr1:1p36.11	conflicting interpretations of pathogenicity\|uncertain significance
NM_006015.6(ARID1A):c.1715C>T (p.Thr572Met)	single nucleotide variant	ARID1A-related disorder [RCV004745325]\|not provided [RCV000364065]	Chr1:26731516 [GRCh38] Chr1:27058007 [GRCh37] Chr1:1p36.11	conflicting interpretations of pathogenicity\|uncertain significance
NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup)	microsatellite	ARID1A-related disorder [RCV003908017]\|Inborn genetic diseases [RCV002535036]\|not provided [RCV000722648]	Chr1:26696448..26696449 [GRCh38] Chr1:27022939..27022940 [GRCh37] Chr1:1p36.11	benign\|likely benign\|uncertain significance
NM_006015.6(ARID1A):c.945C>T (p.Asp315=)	single nucleotide variant	not provided [RCV002281353]	Chr1:26697348 [GRCh38] Chr1:27023839 [GRCh37] Chr1:1p36.11	conflicting interpretations of pathogenicity\|uncertain significance
NM_006015.6(ARID1A):c.3764G>A (p.Gly1255Glu)	single nucleotide variant	not provided [RCV000489657]	Chr1:26773394 [GRCh38] Chr1:27099885 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.5498G>C (p.Arg1833Pro)	single nucleotide variant	not provided [RCV001760742]	Chr1:26779396 [GRCh38] Chr1:27105887 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6708C>T (p.Arg2236=)	single nucleotide variant	ARID1A-related disorder [RCV003956270]\|not provided [RCV001575268]	Chr1:26780606 [GRCh38] Chr1:27107097 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4993G>A (p.Gly1665Arg)	single nucleotide variant	Inborn genetic diseases [RCV000622341]	Chr1:26775220 [GRCh38] Chr1:27101711 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5344G>C (p.Val1782Leu)	single nucleotide variant	Inborn genetic diseases [RCV000624238]\|not provided [RCV001779028]	Chr1:26779242 [GRCh38] Chr1:27105733 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.67G>T (p.Glu23Ter)	single nucleotide variant	ARID1A-related disorder [RCV004723138]\|not provided [RCV000722667]	Chr1:26696470 [GRCh38] Chr1:27022961 [GRCh37] Chr1:1p36.11	likely pathogenic\|uncertain significance
NM_006015.6(ARID1A):c.1787G>A (p.Arg596His)	single nucleotide variant	not provided [RCV000437967]	Chr1:26731588 [GRCh38] Chr1:27058079 [GRCh37] Chr1:1p36.11	likely pathogenic\|uncertain significance
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002259923]\|not provided [RCV000419589]\|not specified [RCV000502239]	Chr1:26696875 [GRCh38] Chr1:27023366 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.111C>T (p.Gly37=)	single nucleotide variant	not provided [RCV002522388]\|not specified [RCV000428570]	Chr1:26696514 [GRCh38] Chr1:27023005 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.1390C>T (p.Gln464Ter)	single nucleotide variant	not provided [RCV000429177]	Chr1:26731191 [GRCh38] Chr1:27057682 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.3715+5C>T	single nucleotide variant	not provided [RCV000422355]	Chr1:26772992 [GRCh38] Chr1:27099483 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.670C>G (p.Pro224Ala)	single nucleotide variant	not specified [RCV000426142]	Chr1:26697073 [GRCh38] Chr1:27023564 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1649C>A (p.Pro550His)	single nucleotide variant	not provided [RCV000444142]	Chr1:26731450 [GRCh38] Chr1:27057941 [GRCh37] Chr1:1p36.11	conflicting interpretations of pathogenicity\|uncertain significance
NM_006015.6(ARID1A):c.5228C>T (p.Thr1743Met)	single nucleotide variant	Inborn genetic diseases [RCV003362780]\|not provided [RCV000439350]	Chr1:26779126 [GRCh38] Chr1:27105617 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5753G>A (p.Arg1918Gln)	single nucleotide variant	not provided [RCV000433968]	Chr1:26779651 [GRCh38] Chr1:27106142 [GRCh37] Chr1:1p36.11	conflicting interpretations of pathogenicity\|uncertain significance
NM_006015.6(ARID1A):c.1920+5G>A	single nucleotide variant	not provided [RCV000481111]	Chr1:26732797 [GRCh38] Chr1:27059288 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.5311C>T (p.Pro1771Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002259980]\|not provided [RCV000514653]	Chr1:26779209 [GRCh38] Chr1:27105700 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.5262del (p.Ser1755fs)	deletion	not provided [RCV000478112]	Chr1:26779160 [GRCh38] Chr1:27105651 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.6666_6672delinsACATGCAGAAC (p.Phe2223fs)	indel	not provided [RCV000479219]	Chr1:26780564..26780570 [GRCh38] Chr1:27107055..27107061 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.843G>A (p.Ala281=)	single nucleotide variant	ARID1A-related disorder [RCV004745426]\|not provided [RCV003558413]\|not specified [RCV000501090]	Chr1:26697246 [GRCh38] Chr1:27023737 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2320C>T (p.Arg774Cys)	single nucleotide variant	ARID1A-related BAFopathy [RCV001533058]\|Intellectual disability, autosomal dominant 14 [RCV001330178]\|not specified [RCV000501170]	Chr1:26762220 [GRCh38] Chr1:27088711 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=)	single nucleotide variant	ARID1A-related disorder [RCV003900038]\|Intellectual disability, autosomal dominant 14 [RCV002259976]\|not provided [RCV001692146]\|not specified [RCV000503416]	Chr1:26775659 [GRCh38] Chr1:27102150 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.358C>T (p.Pro120Ser)	single nucleotide variant	ARID1A-related disorder [RCV003972823]\|not provided [RCV001724030]\|not specified [RCV000503505]	Chr1:26696761 [GRCh38] Chr1:27023252 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.3978GCA[10] (p.Gln1333_Gln1334dup)	microsatellite	Intellectual disability, autosomal dominant 14 [RCV002496938]\|not provided [RCV002527201]\|not specified [RCV000501311]	Chr1:26773690..26773691 [GRCh38] Chr1:27100181..27100182 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1619C>T (p.Thr540Met)	single nucleotide variant	not specified [RCV000501414]	Chr1:26731420 [GRCh38] Chr1:27057911 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.135C>T (p.Ala45=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002259970]\|not provided [RCV001613318]\|not specified [RCV000503755]	Chr1:26696538 [GRCh38] Chr1:27023029 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.239A>G (p.Asn80Ser)	single nucleotide variant	not provided [RCV001569468]\|not specified [RCV000503812]	Chr1:26696642 [GRCh38] Chr1:27023133 [GRCh37] Chr1:1p36.11	benign\|likely benign\|uncertain significance
NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002259971]\|not provided [RCV002056837]\|not specified [RCV000503870]	Chr1:26696671 [GRCh38] Chr1:27023162 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.1803+9T>C	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002506219]\|not provided [RCV002524154]\|not specified [RCV000503969]	Chr1:26731613 [GRCh38] Chr1:27058104 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.717G>T (p.Pro239=)	single nucleotide variant	not specified [RCV000504000]	Chr1:26697120 [GRCh38] Chr1:27023611 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4986A>G (p.Lys1662=)	single nucleotide variant	not specified [RCV000501679]	Chr1:26775213 [GRCh38] Chr1:27101704 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3668G>A (p.Arg1223His)	single nucleotide variant	not specified [RCV000504049]	Chr1:26772940 [GRCh38] Chr1:27099431 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.921_940del (p.Tyr308fs)	deletion	Intellectual disability, autosomal dominant 14 [RCV000504260]	Chr1:26697317..26697336 [GRCh38] Chr1:27023808..27023827 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.2541C>A (p.Ile847=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002259974]\|not provided [RCV001618713]\|not specified [RCV000499591]	Chr1:26763094 [GRCh38] Chr1:27089585 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.6544G>C (p.Ala2182Pro)	single nucleotide variant	not specified [RCV000499637]	Chr1:26780442 [GRCh38] Chr1:27106933 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5491C>G (p.Leu1831Val)	single nucleotide variant	Inborn genetic diseases [RCV004659076]\|not provided [RCV000513427]\|not specified [RCV000499675]	Chr1:26779389 [GRCh38] Chr1:27105880 [GRCh37] Chr1:1p36.11	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006015.6(ARID1A):c.2204G>A (p.Ser735Asn)	single nucleotide variant	Inborn genetic diseases [RCV003243156]\|not provided [RCV002524157]\|not specified [RCV000504387]	Chr1:26761426 [GRCh38] Chr1:27087917 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.-7G>T	single nucleotide variant	not specified [RCV000501996]	Chr1:26696397 [GRCh38] Chr1:27022888 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1351-10T>C	single nucleotide variant	not specified [RCV000502008]	Chr1:26731142 [GRCh38] Chr1:27057633 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.264C>T (p.Ala88=)	single nucleotide variant	ARID1A-related disorder [RCV003932818]\|not provided [RCV002524153]\|not specified [RCV000502110]	Chr1:26696667 [GRCh38] Chr1:27023158 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.3975C>G (p.Pro1325=)	single nucleotide variant	not provided [RCV001731723]\|not specified [RCV000499876]	Chr1:26773688 [GRCh38] Chr1:27100179 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.879C>T (p.Pro293=)	single nucleotide variant	not specified [RCV000502212]	Chr1:26697282 [GRCh38] Chr1:27023773 [GRCh37] Chr1:1p36.11	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_006015.6(ARID1A):c.5303T>C (p.Leu1768Pro)	single nucleotide variant	not specified [RCV000500000]	Chr1:26779201 [GRCh38] Chr1:27105692 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.483CGC[5] (p.Ala167dup)	microsatellite	ARID1A-related disorder [RCV003925447]\|not provided [RCV001683525]\|not specified [RCV000500108]	Chr1:26696885..26696886 [GRCh38] Chr1:27023376..27023377 [GRCh37] Chr1:1p36.11	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006015.6(ARID1A):c.326C>T (p.Pro109Leu)	single nucleotide variant	not provided [RCV002524156]\|not specified [RCV000502382]	Chr1:26696729 [GRCh38] Chr1:27023220 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.249CGG[6] (p.Gly86_Gly87dup)	microsatellite	ARID1A-related disorder [RCV003915363]\|not provided [RCV002527199]\|not specified [RCV000500144]	Chr1:26696649..26696650 [GRCh38] Chr1:27023140..27023141 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.750G>C (p.Lys250Asn)	single nucleotide variant	not specified [RCV000502510]	Chr1:26697153 [GRCh38] Chr1:27023644 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6410C>A (p.Ala2137Asp)	single nucleotide variant	Coffin-Siris syndrome [RCV000509492]\|not provided [RCV000498099]	Chr1:26780308 [GRCh38] Chr1:27106799 [GRCh37] Chr1:1p36.11	likely pathogenic\|not provided
NM_006015.6(ARID1A):c.250_267dup (p.Gly84_Gly89dup)	duplication	not provided [RCV002524152]\|not specified [RCV000500369]	Chr1:26696649..26696650 [GRCh38] Chr1:27023140..27023141 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.318C>T (p.Asn106=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002259972]\|not provided [RCV001712459]\|not specified [RCV000500481]	Chr1:26696721 [GRCh38] Chr1:27023212 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.3408G>A (p.Ala1136=)	single nucleotide variant	ARID1A-related disorder [RCV003960149]\|Intellectual disability, autosomal dominant 14 [RCV000765105]\|not provided [RCV001709657]\|not specified [RCV000500706]	Chr1:26772501 [GRCh38] Chr1:27098992 [GRCh37] Chr1:1p36.11	benign\|likely benign\|uncertain significance
NM_006015.6(ARID1A):c.2449G>T (p.Ala817Ser)	single nucleotide variant	not specified [RCV000502942]	Chr1:26763002 [GRCh38] Chr1:27089493 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2139A>G (p.Pro713=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002259973]\|not provided [RCV000893350]\|not specified [RCV000502991]	Chr1:26761074 [GRCh38] Chr1:27087565 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.5164C>T (p.Arg1722Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV000503077]	Chr1:26779062 [GRCh38] Chr1:27105553 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.4012_4016delinsCCCTT (p.Ser1338_Tyr1339delinsProPhe)	indel	not provided [RCV000498542]	Chr1:26773809..26773813 [GRCh38] Chr1:27100300..27100304 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del)	deletion	ARID1A-related disorder [RCV003960150]\|Inborn genetic diseases [RCV002527200]\|Intellectual disability, autosomal dominant 14 [RCV001262311]\|not provided [RCV000761646]\|not specified [RCV000500879]	Chr1:26697418..26697432 [GRCh38] Chr1:27023909..27023923 [GRCh37] Chr1:1p36.11	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=)	single nucleotide variant	ARID1A-related disorder [RCV003972822]\|Intellectual disability, autosomal dominant 14 [RCV002259975]\|not provided [RCV001662490]\|not specified [RCV000503125]	Chr1:26773392 [GRCh38] Chr1:27099883 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.6518A>G (p.Asn2173Ser)	single nucleotide variant	not specified [RCV000503219]	Chr1:26780416 [GRCh38] Chr1:27106907 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6259G>A (p.Gly2087Arg)	single nucleotide variant	Hepatoblastoma [RCV000505631]	Chr1:26780157 [GRCh38] Chr1:27106648 [GRCh37] Chr1:1p36.11	other
NM_006015.6(ARID1A):c.2732G>T (p.Arg911Met)	single nucleotide variant	Medulloblastoma [RCV000505678]	Chr1:26763285 [GRCh38] Chr1:27089776 [GRCh37] Chr1:1p36.11	other
NM_006015.6(ARID1A):c.4860dup (p.Pro1621fs)	duplication	Intellectual disability, autosomal dominant 14 [RCV000677644]	Chr1:26775086..26775087 [GRCh38] Chr1:27101577..27101578 [GRCh37] Chr1:1p36.11	likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_006015.6(ARID1A):c.6399C>G (p.Asp2133Glu)	single nucleotide variant	Inborn genetic diseases [RCV000624283]	Chr1:26780297 [GRCh38] Chr1:27106788 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5647A>T (p.Thr1883Ser)	single nucleotide variant	Inborn genetic diseases [RCV000624314]\|not provided [RCV002225693]	Chr1:26779545 [GRCh38] Chr1:27106036 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.1844C>T (p.Ala615Val)	single nucleotide variant	Inborn genetic diseases [RCV003276841]	Chr1:26732716 [GRCh38] Chr1:27059207 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6436_6438del (p.Lys2146del)	deletion	Endometrial carcinoma [RCV003328089]	Chr1:26780332..26780334 [GRCh38] Chr1:27106823..27106825 [GRCh37] Chr1:1p36.11	association
NM_006015.6(ARID1A):c.193C>G (p.Pro65Ala)	single nucleotide variant	not provided [RCV000514692]	Chr1:26696596 [GRCh38] Chr1:27023087 [GRCh37] Chr1:1p36.11	conflicting interpretations of pathogenicity\|uncertain significance
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly)	single nucleotide variant	Congenital cerebellar hypoplasia [RCV000626891]\|Intellectual disability, autosomal dominant 14 [RCV001197118]\|not provided [RCV002529797]	Chr1:26775673 [GRCh38] Chr1:27102164 [GRCh37] Chr1:1p36.11	likely pathogenic\|uncertain significance
NM_006015.6(ARID1A):c.3341C>G (p.Pro1114Arg)	single nucleotide variant	Inborn genetic diseases [RCV003291988]	Chr1:26771261 [GRCh38] Chr1:27097752 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3407C>T (p.Ala1136Val)	single nucleotide variant	ARID1A-related disorder [RCV004745506]\|Inborn genetic diseases [RCV000624834]\|not provided [RCV002060691]	Chr1:26772500 [GRCh38] Chr1:27098991 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.4480C>T (p.Gln1494Ter)	single nucleotide variant	AKT1 Inhibitor response [RCV000626450]	Chr1:26774707 [GRCh38] Chr1:27101198 [GRCh37] Chr1:1p36.11	drug response
NM_006015.6(ARID1A):c.5246G>A (p.Arg1749Lys)	single nucleotide variant	ARID1A-related disorder [RCV004745498]\|not provided [RCV000596833]	Chr1:26779144 [GRCh38] Chr1:27105635 [GRCh37] Chr1:1p36.11	conflicting interpretations of pathogenicity\|uncertain significance
Single allele	duplication	not specified [RCV000597271]	Chr1:27023629..27023631 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5903_5904del (p.Cys1968fs)	microsatellite	Intellectual disability, autosomal dominant 14 [RCV003314442]	Chr1:26779798..26779799 [GRCh38] Chr1:27106289..27106290 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.741C>T (p.Ala247=)	single nucleotide variant	not provided [RCV000512864]	Chr1:26697144 [GRCh38] Chr1:27023635 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2298G>C (p.Gln766His)	single nucleotide variant	not provided [RCV000513279]	Chr1:26762198 [GRCh38] Chr1:27088689 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5989A>G (p.Asn1997Asp)	single nucleotide variant	Inborn genetic diseases [RCV000624269]	Chr1:26779887 [GRCh38] Chr1:27106378 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5061A>G (p.Ala1687=)	single nucleotide variant	not provided [RCV003825671]	Chr1:26775644 [GRCh38] Chr1:27102135 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6400C>G (p.Leu2134Val)	single nucleotide variant	not provided [RCV000658474]	Chr1:26780298 [GRCh38] Chr1:27106789 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.1348C>T (p.Gln450Ter)	single nucleotide variant	ARID1A-related BAFopathy [RCV001533056]\|Intellectual disability, autosomal dominant 14 [RCV000679916]	Chr1:26729861 [GRCh38] Chr1:27056352 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.261_278dup (p.Ala88_Gly93dup)	duplication	not provided [RCV000723202]	Chr1:26696653..26696654 [GRCh38] Chr1:27023144..27023145 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.581C>T (p.Pro194Leu)	single nucleotide variant	Intellectual disability [RCV001251892]\|Intellectual disability, autosomal dominant 14 [RCV002260149]\|not provided [RCV001571282]	Chr1:26696984 [GRCh38] Chr1:27023475 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.4564G>A (p.Ala1522Thr)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001780409]\|not provided [RCV001571209]	Chr1:26774791 [GRCh38] Chr1:27101282 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_006015.6(ARID1A):c.2298G>A (p.Gln766=)	single nucleotide variant	ARID1A-related disorder [RCV003940988]\|not provided [RCV001541738]	Chr1:26762198 [GRCh38] Chr1:27088689 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.2914del (p.Asp972fs)	deletion	ARID1A-related BAFopathy [RCV001533076]	Chr1:26766489 [GRCh38] Chr1:27092980 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.6490C>T (p.Arg2164Trp)	single nucleotide variant	ARID1A-related BAFopathy [RCV001533080]\|not provided [RCV001786495]	Chr1:26780388 [GRCh38] Chr1:27106879 [GRCh37] Chr1:1p36.11	likely pathogenic\|uncertain significance
NM_006015.6(ARID1A):c.405T>G (p.Pro135=)	single nucleotide variant	ARID1A-related disorder [RCV003966168]\|not provided [RCV001545977]	Chr1:26696808 [GRCh38] Chr1:27023299 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.3199-95A>G	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260400]\|not provided [RCV001725377]	Chr1:26771024 [GRCh38] Chr1:27097515 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.1266C>T (p.Tyr422=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260232]\|not provided [RCV001612873]	Chr1:26729779 [GRCh38] Chr1:27056270 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.*37C>G	single nucleotide variant	not provided [RCV001583802]	Chr1:26780793 [GRCh38] Chr1:27107284 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4560C>T (p.Gly1520=)	single nucleotide variant	not provided [RCV001647882]\|not specified [RCV003151342]	Chr1:26774787 [GRCh38] Chr1:27101278 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.269G>C (p.Ser90Thr)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001591680]	Chr1:26696672 [GRCh38] Chr1:27023163 [GRCh37] Chr1:1p36.11	uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
NM_006015.6(ARID1A):c.750_771dup (p.Ser258fs)	duplication	Intellectual disability, autosomal dominant 14 [RCV000761607]	Chr1:26697152..26697153 [GRCh38] Chr1:27023643..27023644 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.4669C>G (p.Pro1557Ala)	single nucleotide variant	Inborn genetic diseases [RCV002533875]\|not provided [RCV000761647]	Chr1:26774896 [GRCh38] Chr1:27101387 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3062A>G (p.Lys1021Arg)	single nucleotide variant	not provided [RCV003314875]	Chr1:26767863 [GRCh38] Chr1:27094354 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3978G>A (p.Pro1326=)	single nucleotide variant	not provided [RCV001577157]\|not specified [RCV001821913]	Chr1:26773691 [GRCh38] Chr1:27100182 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2698G>A (p.Ala900Thr)	single nucleotide variant	Inborn genetic diseases [RCV002573209]\|not provided [RCV001569932]\|not specified [RCV001821900]	Chr1:26763251 [GRCh38] Chr1:27089742 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.6070C>T (p.Arg2024Trp)	single nucleotide variant	not provided [RCV001546886]	Chr1:26779968 [GRCh38] Chr1:27106459 [GRCh37] Chr1:1p36.11	likely benign\|conflicting interpretations of pathogenicity
NM_006015.6(ARID1A):c.3716-149C>A	single nucleotide variant	not provided [RCV001577945]	Chr1:26773197 [GRCh38] Chr1:27099688 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4101+1G>T	single nucleotide variant	not provided [RCV000786783]	Chr1:26773899 [GRCh38] Chr1:27100390 [GRCh37] Chr1:1p36.11	not provided
NM_006015.6(ARID1A):c.6331G>A (p.Val2111Ile)	single nucleotide variant	not provided [RCV001586394]	Chr1:26780229 [GRCh38] Chr1:27106720 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.3792C>T (p.Ala1264=)	single nucleotide variant	ARID1A-related disorder [RCV003903218]\|Intellectual disability, autosomal dominant 14 [RCV002260118]\|not provided [RCV000951047]	Chr1:26773422 [GRCh38] Chr1:27099913 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.5717G>C (p.Arg1906Pro)	single nucleotide variant	not provided [RCV000906115]	Chr1:26779615 [GRCh38] Chr1:27106106 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.48GCC[4] (p.Pro21del)	microsatellite	ARID1A-related disorder [RCV003978204]\|not provided [RCV000950049]	Chr1:26696449..26696451 [GRCh38] Chr1:27022940..27022942 [GRCh37] Chr1:1p36.11	pathogenic\|benign\|likely benign
NM_006015.6(ARID1A):c.1807C>T (p.Leu603=)	single nucleotide variant	not provided [RCV000903250]	Chr1:26732679 [GRCh38] Chr1:27059170 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6659A>G (p.Asn2220Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260122]\|not provided [RCV000970777]\|not specified [RCV001819110]	Chr1:26780557 [GRCh38] Chr1:27107048 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.500C>T (p.Ala167Val)	single nucleotide variant	Autism spectrum disorder [RCV003127604]\|not provided [RCV001051325]	Chr1:26696903 [GRCh38] Chr1:27023394 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.1920+51A>G	single nucleotide variant	not provided [RCV001643446]	Chr1:26732843 [GRCh38] Chr1:27059334 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.681_684del (p.Ala228fs)	deletion	Primary low grade serous adenocarcinoma of ovary [RCV000856667]	Chr1:26697082..26697085 [GRCh38] Chr1:27023573..27023576 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3765G>A (p.Gly1255=)	single nucleotide variant	not provided [RCV000907156]	Chr1:26773395 [GRCh38] Chr1:27099886 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1597C>T (p.Pro533Ser)	single nucleotide variant	ARID1A-related disorder [RCV003895468]\|not provided [RCV000896256]	Chr1:26731398 [GRCh38] Chr1:27057889 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.2302G>A (p.Gly768Ser)	single nucleotide variant	not provided [RCV000900803]	Chr1:26762202 [GRCh38] Chr1:27088693 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.3912C>A (p.Ala1304=)	single nucleotide variant	not provided [RCV000982994]	Chr1:26773625 [GRCh38] Chr1:27100116 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3348C>A (p.Asp1116Glu)	single nucleotide variant	not provided [RCV003314145]	Chr1:26771268 [GRCh38] Chr1:27097759 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6308T>C (p.Phe2103Ser)	single nucleotide variant	not provided [RCV003313479]	Chr1:26780206 [GRCh38] Chr1:27106697 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6750_6754del (p.Glu2250fs)	deletion	not provided [RCV000993961]	Chr1:26780647..26780651 [GRCh38] Chr1:27107138..27107142 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV000785930]\|not provided [RCV001571164]	Chr1:26767868 [GRCh38] Chr1:27094359 [GRCh37] Chr1:1p36.11	pathogenic\|likely pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
NM_006015.6(ARID1A):c.55C>G (p.Pro19Ala)	single nucleotide variant	not provided [RCV001090915]	Chr1:26696458 [GRCh38] Chr1:27022949 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.446G>A (p.Gly149Asp)	single nucleotide variant	not provided [RCV001090916]	Chr1:26696849 [GRCh38] Chr1:27023340 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6196A>T (p.Asn2066Tyr)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV000986282]	Chr1:26780094 [GRCh38] Chr1:27106585 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.5414T>G (p.Leu1805Arg)	single nucleotide variant	not provided [RCV000993960]	Chr1:26779312 [GRCh38] Chr1:27105803 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.261_278del (p.Ala88_Gly93del)	deletion	ARID1A-related disorder [RCV004746431]\|not provided [RCV001571556]	Chr1:26696654..26696671 [GRCh38] Chr1:27023145..27023162 [GRCh37] Chr1:1p36.11	likely benign\|conflicting interpretations of pathogenicity
NM_006015.6(ARID1A):c.167A>T (p.Gln56Leu)	single nucleotide variant	not provided [RCV003106358]	Chr1:26696570 [GRCh38] Chr1:27023061 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.704G>A (p.Arg235Lys)	single nucleotide variant	not provided [RCV003318138]	Chr1:26697107 [GRCh38] Chr1:27023598 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.*5C>T	single nucleotide variant	ARID1A-related disorder [RCV003910874]\|not provided [RCV001554898]	Chr1:26780761 [GRCh38] Chr1:27107252 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4081A>G (p.Met1361Val)	single nucleotide variant	Inborn genetic diseases [RCV004656638]\|not provided [RCV001671439]	Chr1:26773878 [GRCh38] Chr1:27100369 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.162C>T (p.Ala54=)	single nucleotide variant	ARID1A-related disorder [RCV003941056]\|Intellectual disability, autosomal dominant 14 [RCV002260262]\|not provided [RCV001655177]\|not specified [RCV003151344]	Chr1:26696565 [GRCh38] Chr1:27023056 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.3199-74G>C	single nucleotide variant	not provided [RCV001576135]	Chr1:26771045 [GRCh38] Chr1:27097536 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6709G>A (p.Ala2237Thr)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260199]\|not provided [RCV001555296]	Chr1:26780607 [GRCh38] Chr1:27107098 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.*10G>T	single nucleotide variant	not provided [RCV001560817]	Chr1:26780766 [GRCh38] Chr1:27107257 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1351-22A>C	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260318]\|not provided [RCV001684815]	Chr1:26731130 [GRCh38] Chr1:27057621 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.437C>T (p.Pro146Leu)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV003645890]\|not provided [RCV001598612]	Chr1:26696840 [GRCh38] Chr1:27023331 [GRCh37] Chr1:1p36.11	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006015.6(ARID1A):c.1292C>T (p.Pro431Leu)	single nucleotide variant	not provided [RCV001556765]	Chr1:26729805 [GRCh38] Chr1:27056296 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3972C>T (p.Tyr1324=)	single nucleotide variant	not provided [RCV001693910]	Chr1:26773685 [GRCh38] Chr1:27100176 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.1920+51A>C	single nucleotide variant	not provided [RCV001615911]	Chr1:26732843 [GRCh38] Chr1:27059334 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.2419+298del	deletion	not provided [RCV001586976]	Chr1:26762617 [GRCh38] Chr1:27089108 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2668A>G (p.Met890Val)	single nucleotide variant	not provided [RCV001572569]	Chr1:26763221 [GRCh38] Chr1:27089712 [GRCh37] Chr1:1p36.11	likely benign\|conflicting interpretations of pathogenicity
NM_006015.6(ARID1A):c.-27C>T	single nucleotide variant	not provided [RCV001613917]	Chr1:26696377 [GRCh38] Chr1:27022868 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.5287GAA[4] (p.Glu1767del)	microsatellite	Intellectual disability, autosomal dominant 14 [RCV002260228]\|not provided [RCV001616343]\|not specified [RCV001821928]	Chr1:26779185..26779187 [GRCh38] Chr1:27105676..27105678 [GRCh37] Chr1:1p36.11	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_006015.6(ARID1A):c.3716-7C>T	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260207]\|not provided [RCV001573199]\|not specified [RCV001821906]	Chr1:26773339 [GRCh38] Chr1:27099830 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.250_267del (p.Gly84_Gly89del)	deletion	ARID1A-related disorder [RCV003931264]\|not provided [RCV001665474]	Chr1:26696650..26696667 [GRCh38] Chr1:27023141..27023158 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.3199-25C>T	single nucleotide variant	ARID1A-related disorder [RCV003966189]\|not provided [RCV001559624]	Chr1:26771094 [GRCh38] Chr1:27097585 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5449G>A (p.Val1817Ile)	single nucleotide variant	Inborn genetic diseases [RCV002579470]\|not provided [RCV001587932]	Chr1:26779347 [GRCh38] Chr1:27105838 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3199-216dup	duplication	not provided [RCV001552832]	Chr1:26770902..26770903 [GRCh38] Chr1:27097393..27097394 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6582C>T (p.Asn2194=)	single nucleotide variant	not provided [RCV001552835]	Chr1:26780480 [GRCh38] Chr1:27106971 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.482T>C (p.Val161Ala)	single nucleotide variant	not provided [RCV001559829]	Chr1:26696885 [GRCh38] Chr1:27023376 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2657C>T (p.Pro886Leu)	single nucleotide variant	not provided [RCV001559830]	Chr1:26763210 [GRCh38] Chr1:27089701 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1708_1766del (p.Pro570fs)	deletion	ARID1A-related BAFopathy [RCV001533057]	Chr1:26731503..26731561 [GRCh38] Chr1:27057994..27058052 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.4869G>A (p.Ser1623=)	single nucleotide variant	ARID1A-related disorder [RCV003948662]\|Intellectual disability, autosomal dominant 14 [RCV002260275]\|not provided [RCV001666088]	Chr1:26775096 [GRCh38] Chr1:27101587 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.1188C>T (p.Gly396=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260097]\|not provided [RCV000885961]	Chr1:26729701 [GRCh38] Chr1:27056192 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.1131C>T (p.Thr377=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260099]\|not provided [RCV000888785]	Chr1:26697534 [GRCh38] Chr1:27024025 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.1137+7A>T	single nucleotide variant	not provided [RCV000948220]	Chr1:26697547 [GRCh38] Chr1:27024038 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6099GGA[2] (p.Glu2036del)	microsatellite	Intellectual disability, autosomal dominant 14 [RCV001196805]	Chr1:26779996..26779998 [GRCh38] Chr1:27106487..27106489 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2881A>C (p.Met961Leu)	single nucleotide variant	Inborn genetic diseases [RCV002568980]\|not provided [RCV001550905]	Chr1:26766459 [GRCh38] Chr1:27092950 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.4101+1G>A	single nucleotide variant	not provided [RCV001728182]	Chr1:26773899 [GRCh38] Chr1:27100390 [GRCh37] Chr1:1p36.11	not provided
NM_006015.6(ARID1A):c.2228A>G (p.Gln743Arg)	single nucleotide variant	not provided [RCV001732301]	Chr1:26761450 [GRCh38] Chr1:27087941 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6698G>A (p.Arg2233Gln)	single nucleotide variant	not provided [RCV002467172]	Chr1:26780596 [GRCh38] Chr1:27107087 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.630C>G (p.His210Gln)	single nucleotide variant	not provided [RCV002467182]	Chr1:26697033 [GRCh38] Chr1:27023524 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4947A>G (p.Thr1649=)	single nucleotide variant	not provided [RCV001557744]	Chr1:26775174 [GRCh38] Chr1:27101665 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.6282C>G (p.Cys2094Trp)	single nucleotide variant	not provided [RCV003327853]	Chr1:26780180 [GRCh38] Chr1:27106671 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4993+22G>C	single nucleotide variant	not provided [RCV001563371]	Chr1:26775242 [GRCh38] Chr1:27101733 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2229A>G (p.Gln743=)	single nucleotide variant	not provided [RCV001558536]	Chr1:26761451 [GRCh38] Chr1:27087942 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.591G>T (p.Gly197=)	single nucleotide variant	not provided [RCV001558640]	Chr1:26696994 [GRCh38] Chr1:27023485 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.927G>A (p.Gln309=)	single nucleotide variant	not provided [RCV001558656]	Chr1:26697330 [GRCh38] Chr1:27023821 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.263_277del (p.Ala88_Gly92del)	deletion	not provided [RCV001593804]	Chr1:26696665..26696679 [GRCh38] Chr1:27023156..27023170 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2988+36G>A	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260254]\|not provided [RCV001656001]	Chr1:26766602 [GRCh38] Chr1:27093093 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.4576G>A (p.Val1526Met)	single nucleotide variant	not provided [RCV001559931]	Chr1:26774803 [GRCh38] Chr1:27101294 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1350+25G>C	single nucleotide variant	not provided [RCV001561060]	Chr1:26729888 [GRCh38] Chr1:27056379 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2732+160G>A	single nucleotide variant	not provided [RCV001556001]	Chr1:26763445 [GRCh38] Chr1:27089936 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.511C>G (p.Gln171Glu)	single nucleotide variant	not provided [RCV003235944]	Chr1:26696914 [GRCh38] Chr1:27023405 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.376G>A (p.Gly126Ser)	single nucleotide variant	not provided [RCV001561506]	Chr1:26696779 [GRCh38] Chr1:27023270 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.4773G>T (p.Leu1591=)	single nucleotide variant	not provided [RCV001659063]	Chr1:26775000 [GRCh38] Chr1:27101491 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4542G>A (p.Thr1514=)	single nucleotide variant	ARID1A-related disorder [RCV003910955]\|not provided [RCV001675174]	Chr1:26774769 [GRCh38] Chr1:27101260 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.547G>A (p.Ala183Thr)	single nucleotide variant	not provided [RCV001651944]	Chr1:26696950 [GRCh38] Chr1:27023441 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.4994-20G>C	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260235]\|not provided [RCV001637253]	Chr1:26775557 [GRCh38] Chr1:27102048 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.*25C>T	single nucleotide variant	not provided [RCV001608755]	Chr1:26780781 [GRCh38] Chr1:27107272 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.837C>T (p.Pro279=)	single nucleotide variant	not provided [RCV001673318]	Chr1:26697240 [GRCh38] Chr1:27023731 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.5934C>T (p.Ala1978=)	single nucleotide variant	not provided [RCV001686424]	Chr1:26779832 [GRCh38] Chr1:27106323 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.*25dup	duplication	not provided [RCV001686351]	Chr1:26780772..26780773 [GRCh38] Chr1:27107263..27107264 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.2252-282A>G	single nucleotide variant	not provided [RCV001688569]	Chr1:26761870 [GRCh38] Chr1:27088361 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.2161+49A>G	single nucleotide variant	not provided [RCV001656440]	Chr1:26761145 [GRCh38] Chr1:27087636 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.4563C>T (p.Pro1521=)	single nucleotide variant	not provided [RCV001613531]	Chr1:26774790 [GRCh38] Chr1:27101281 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.2T>C (p.Met1Thr)	single nucleotide variant	not provided [RCV001564646]	Chr1:26696405 [GRCh38] Chr1:27022896 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1350+289G>A	single nucleotide variant	not provided [RCV001687198]	Chr1:26730152 [GRCh38] Chr1:27056643 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.3198+10C>T	single nucleotide variant	not provided [RCV001658852]	Chr1:26768009 [GRCh38] Chr1:27094500 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1380C>T (p.Ser460=)	single nucleotide variant	not provided [RCV001658876]	Chr1:26731181 [GRCh38] Chr1:27057672 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3870G>A (p.Thr1290=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260327]\|not provided [RCV001687138]	Chr1:26773583 [GRCh38] Chr1:27100074 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.5693del (p.Pro1898fs)	deletion	Intellectual disability, autosomal dominant 14 [RCV001007870]	Chr1:26779587 [GRCh38] Chr1:27106078 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.4783A>G (p.Met1595Val)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001175309]	Chr1:26775010 [GRCh38] Chr1:27101501 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6518A>T (p.Asn2173Ile)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001175158]	Chr1:26780416 [GRCh38] Chr1:27106907 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.2252-97A>T	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260231]\|not provided [RCV001616651]	Chr1:26762055 [GRCh38] Chr1:27088546 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.2074A>G (p.Ile692Val)	single nucleotide variant	Inborn genetic diseases [RCV002539666]\|not provided [RCV001671743]	Chr1:26761009 [GRCh38] Chr1:27087500 [GRCh37] Chr1:1p36.11	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_006015.6(ARID1A):c.4779G>T (p.Arg1593=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260229]\|not provided [RCV001609539]\|not specified [RCV001821929]	Chr1:26775006 [GRCh38] Chr1:27101497 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.166C>T (p.Gln56Ter)	single nucleotide variant	ARID1A-related BAFopathy [RCV001533055]	Chr1:26696569 [GRCh38] Chr1:27023060 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.372C>T (p.Gly124=)	single nucleotide variant	not provided [RCV001587675]	Chr1:26696775 [GRCh38] Chr1:27023266 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.3146T>G (p.Leu1049Arg)	single nucleotide variant	ARID1A-related BAFopathy [RCV001533077]	Chr1:26767947 [GRCh38] Chr1:27094438 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.5124+123C>G	single nucleotide variant	not provided [RCV001590478]	Chr1:26775830 [GRCh38] Chr1:27102321 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5615C>T (p.Ala1872Val)	single nucleotide variant	ARID1A-related disorder [RCV003921322]\|not provided [RCV001669466]	Chr1:26779513 [GRCh38] Chr1:27106004 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup)	microsatellite	ARID1A-related disorder [RCV003955138]\|not provided [RCV000727463]\|not specified [RCV000194517]	Chr1:26697129..26697130 [GRCh38] Chr1:27023620..27023621 [GRCh37] Chr1:1p36.11	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006015.6(ARID1A):c.1207C>T (p.Gln403Ter)	single nucleotide variant	not provided [RCV000224098]	Chr1:26729720 [GRCh38] Chr1:27056211 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.2186C>T (p.Pro729Leu)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001270726]	Chr1:26761408 [GRCh38] Chr1:27087899 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5351del (p.Asn1784fs)	deletion	not provided [RCV000482693]	Chr1:26779246 [GRCh38] Chr1:27105737 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.48GCC[6] (p.Pro21dup)	microsatellite	ARID1A-related disorder [RCV003932819]\|Astrocytoma [RCV000590829]\|Inborn genetic diseases [RCV002524155]\|not provided [RCV001662491]\|not specified [RCV000503545]	Chr1:26696448..26696449 [GRCh38] Chr1:27022939..27022940 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.5442A>G (p.Val1814=)	single nucleotide variant	not specified [RCV000501783]	Chr1:26779340 [GRCh38] Chr1:27105831 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.740C>T (p.Ala247Val)	single nucleotide variant	Inborn genetic diseases [RCV003280301]	Chr1:26697143 [GRCh38] Chr1:27023634 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1653C>G (p.Tyr551Ter)	single nucleotide variant	Colorectal cancer [RCV000627062]	Chr1:26731454 [GRCh38] Chr1:27057945 [GRCh37] Chr1:1p36.11	association
NM_006015.6(ARID1A):c.5655A>C (p.Ala1885=)	single nucleotide variant	not provided [RCV000584964]	Chr1:26779553 [GRCh38] Chr1:27106044 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3702C>T (p.Gly1234=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV000612410]\|not provided [RCV001727776]	Chr1:26772974 [GRCh38] Chr1:27099465 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs)	deletion	ARID1A-related BAFopathy [RCV001533079]\|Intellectual disability, autosomal dominant 14 [RCV000679917]	Chr1:26780032..26780036 [GRCh38] Chr1:27106523..27106527 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.5849G>A (p.Arg1950Gln)	single nucleotide variant	not provided [RCV003768262]\|not specified [RCV000736094]	Chr1:26779747 [GRCh38] Chr1:27106238 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.2879-1G>A	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001003475]	Chr1:26766456 [GRCh38] Chr1:27092947 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.1803+274TTTTA[6]	microsatellite	not provided [RCV001575077]	Chr1:26731877..26731878 [GRCh38] Chr1:27058368..27058369 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6797TGA[1] (p.Met2267del)	microsatellite	not provided [RCV000900315]	Chr1:26780695..26780697 [GRCh38] Chr1:27107186..27107188 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3978GCA[7] (p.Gln1334del)	microsatellite	not provided [RCV000971196]	Chr1:26773691..26773693 [GRCh38] Chr1:27100182..27100184 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.3148G>T (p.Asp1050Tyr)	single nucleotide variant	ARID1A-related BAFopathy [RCV001533078]\|Intellectual disability, autosomal dominant 14 [RCV000850527]	Chr1:26767949 [GRCh38] Chr1:27094440 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.592C>T (p.Pro198Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV000986280]\|not provided [RCV002549663]	Chr1:26696995 [GRCh38] Chr1:27023486 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5015T>G (p.Val1672Gly)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV000986281]	Chr1:26775598 [GRCh38] Chr1:27102089 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002279732]\|Marfanoid habitus and intellectual disability [RCV000850479]\|not provided [RCV001675965]	Chr1:26774929 [GRCh38] Chr1:27101420 [GRCh37] Chr1:1p36.11	benign\|likely benign\|uncertain significance
NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260130]\|not provided [RCV000993959]\|not specified [RCV001819704]	Chr1:26773850 [GRCh38] Chr1:27100341 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.3206A>G (p.Lys1069Arg)	single nucleotide variant	not provided [RCV003127178]	Chr1:26771126 [GRCh38] Chr1:27097617 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5719A>T (p.Ile1907Phe)	single nucleotide variant	ARID1A-related disorder [RCV003968433]\|not provided [RCV001665421]	Chr1:26779617 [GRCh38] Chr1:27106108 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6730G>T (p.Val2244Leu)	single nucleotide variant	not provided [RCV001569989]	Chr1:26780628 [GRCh38] Chr1:27107119 [GRCh37] Chr1:1p36.11	likely benign\|conflicting interpretations of pathogenicity
NM_006015.6(ARID1A):c.6807A>G (p.Ser2269=)	single nucleotide variant	not provided [RCV001561389]	Chr1:26780705 [GRCh38] Chr1:27107196 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6444T>C (p.Tyr2148=)	single nucleotide variant	not provided [RCV001687533]	Chr1:26780342 [GRCh38] Chr1:27106833 [GRCh37] Chr1:1p36.11	benign
NC_000001.11:g.26695894T>C	single nucleotide variant	not provided [RCV001588411]	Chr1:26695894 [GRCh38] Chr1:27022385 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.24C>G (p.Ala8=)	single nucleotide variant	not provided [RCV000900047]	Chr1:26696427 [GRCh38] Chr1:27022918 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3467A>G (p.Glu1156Gly)	single nucleotide variant	not provided [RCV001760555]	Chr1:26772560 [GRCh38] Chr1:27099051 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4101G>A (p.Gln1367=)	single nucleotide variant	Neurodevelopmental delay [RCV002274203]\|not provided [RCV001760586]	Chr1:26773898 [GRCh38] Chr1:27100389 [GRCh37] Chr1:1p36.11	likely pathogenic\|uncertain significance
GRCh37/hg19 1p36.11(chr1:27001498-27110331)x3	copy number gain	ARID1A duplication associated intellectual disability syndrome [RCV001543361]	Chr1:27001498..27110331 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.*37C>T	single nucleotide variant	not provided [RCV001669160]	Chr1:26780793 [GRCh38] Chr1:27107284 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.393G>C (p.Gly131=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260239]\|not provided [RCV001643740]	Chr1:26696796 [GRCh38] Chr1:27023287 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.1716G>A (p.Thr572=)	single nucleotide variant	ARID1A-related disorder [RCV003956334]\|Intellectual disability, autosomal dominant 14 [RCV002260366]\|not provided [RCV001708421]	Chr1:26731517 [GRCh38] Chr1:27058008 [GRCh37] Chr1:1p36.11	benign\|likely benign
NC_000001.11:g.26695829G>A	single nucleotide variant	not provided [RCV001584577]	Chr1:26695829 [GRCh38] Chr1:27022320 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.*23C>T	single nucleotide variant	not provided [RCV001690232]	Chr1:26780779 [GRCh38] Chr1:27107270 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.2989-125A>G	single nucleotide variant	not provided [RCV001725378]	Chr1:26767665 [GRCh38] Chr1:27094156 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.865C>T (p.Pro289Ser)	single nucleotide variant	not provided [RCV001586241]	Chr1:26697268 [GRCh38] Chr1:27023759 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.4101+42C>T	single nucleotide variant	not provided [RCV001669834]	Chr1:26773940 [GRCh38] Chr1:27100431 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.759C>G (p.Pro253=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260175]\|not provided [RCV001530802]	Chr1:26697162 [GRCh38] Chr1:27023653 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.2718C>G (p.Asn906Lys)	single nucleotide variant	ARID1A-related disorder [RCV004746236]\|not provided [RCV001090917]	Chr1:26763271 [GRCh38] Chr1:27089762 [GRCh37] Chr1:1p36.11	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006015.6(ARID1A):c.3197_3198insAA (p.Val1067fs)	insertion	Coffin-Siris syndrome [RCV001251895]	Chr1:26767997..26767998 [GRCh38] Chr1:27094488..27094489 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.163G>A (p.Gly55Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001254354]	Chr1:26696566 [GRCh38] Chr1:27023057 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.261_275del (p.Ala88_Gly92del)	deletion	Intellectual disability, autosomal dominant 14 [RCV001253645]	Chr1:26696657..26696671 [GRCh38] Chr1:27023148..27023162 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.458C>T (p.Pro153Leu)	single nucleotide variant	Intellectual disability [RCV001251891]\|not provided [RCV002570474]	Chr1:26696861 [GRCh38] Chr1:27023352 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.5636G>A (p.Arg1879Gln)	single nucleotide variant	ARID1A-related disorder [RCV003953607]\|Intellectual disability [RCV001251893]\|not provided [RCV001702588]	Chr1:26779534 [GRCh38] Chr1:27106025 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5309G>A (p.Gly1770Asp)	single nucleotide variant	Intellectual disability [RCV001251894]	Chr1:26779207 [GRCh38] Chr1:27105698 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.849_854del (p.Gly284_Gly285del)	deletion	Intellectual disability, autosomal dominant 14 [RCV001253234]	Chr1:26697250..26697255 [GRCh38] Chr1:27023741..27023746 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.895C>T (p.Leu299Phe)	single nucleotide variant	Inborn genetic diseases [RCV001267252]	Chr1:26697298 [GRCh38] Chr1:27023789 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.943G>A (p.Asp315Asn)	single nucleotide variant	not provided [RCV003574866]\|not specified [RCV001260449]	Chr1:26697346 [GRCh38] Chr1:27023837 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.323G>A (p.Gly108Asp)	single nucleotide variant	not provided [RCV002284900]	Chr1:26696726 [GRCh38] Chr1:27023217 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2380G>A (p.Gly794Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001333478]	Chr1:26762280 [GRCh38] Chr1:27088771 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5715del (p.Lys1905fs)	deletion	Colorectal cancer [RCV001293812]	Chr1:26779609 [GRCh38] Chr1:27106100 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.4004+5G>A	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001262225]	Chr1:26773722 [GRCh38] Chr1:27100213 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3196C>T (p.Gln1066Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001267674]	Chr1:26767997 [GRCh38] Chr1:27094488 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.5976_5981dup (p.Phe1993_Val1994dup)	duplication	Inborn genetic diseases [RCV001266303]	Chr1:26779873..26779874 [GRCh38] Chr1:27106364..27106365 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.5531G>A (p.Trp1844Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001265594]	Chr1:26779429 [GRCh38] Chr1:27105920 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.2733-290A>G	single nucleotide variant	not provided [RCV001545743]	Chr1:26765931 [GRCh38] Chr1:27092422 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3276G>T (p.Leu1092Phe)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001330183]	Chr1:26771196 [GRCh38] Chr1:27097687 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5963T>C (p.Ile1988Thr)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001330186]	Chr1:26779861 [GRCh38] Chr1:27106352 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.270CGG[4] (p.Gly93dup)	microsatellite	Pulmonic stenosis [RCV001281510]	Chr1:26696671..26696672 [GRCh38] Chr1:27023162..27023163 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1113G>A (p.Gly371=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001283776]	Chr1:26697516 [GRCh38] Chr1:27024007 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4114C>A (p.Pro1372Thr)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001333480]\|not provided [RCV003770850]	Chr1:26774341 [GRCh38] Chr1:27100832 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.197C>G (p.Pro66Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001333477]	Chr1:26696600 [GRCh38] Chr1:27023091 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.357G>A (p.Glu119=)	single nucleotide variant	not provided [RCV001310514]	Chr1:26696760 [GRCh38] Chr1:27023251 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5125C>T (p.Leu1709Phe)	single nucleotide variant	not provided [RCV001310515]	Chr1:26779023 [GRCh38] Chr1:27105514 [GRCh37] Chr1:1p36.11	likely pathogenic\|conflicting interpretations of pathogenicity
NM_006015.6(ARID1A):c.5940_6000del (p.Val1982fs)	deletion	Intellectual disability, autosomal dominant 14 [RCV001449886]	Chr1:26779837..26779897 [GRCh38] Chr1:27106328..27106388 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.2149G>A (p.Ala717Thr)	single nucleotide variant	Neurodevelopmental disorder [RCV001374974]	Chr1:26761084 [GRCh38] Chr1:27087575 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5153A>G (p.Glu1718Gly)	single nucleotide variant	not provided [RCV001369224]	Chr1:26779051 [GRCh38] Chr1:27105542 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1430A>G (p.His477Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001333476]\|not provided [RCV002546634]	Chr1:26731231 [GRCh38] Chr1:27057722 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.2630C>T (p.Pro877Leu)	single nucleotide variant	ARID1A-related BAFopathy [RCV001533059]\|Coffin-Siris syndrome 1 [RCV004720307]\|Intellectual disability, autosomal dominant 14 [RCV001333479]	Chr1:26763183 [GRCh38] Chr1:27089674 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1712C>T (p.Ser571Leu)	single nucleotide variant	ARID1A-related disorder [RCV003898315]\|Intellectual disability, autosomal dominant 14 [RCV001330177]	Chr1:26731513 [GRCh38] Chr1:27058004 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2756A>G (p.Asn919Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001330179]	Chr1:26766244 [GRCh38] Chr1:27092735 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3049G>A (p.Glu1017Lys)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001330181]	Chr1:26767850 [GRCh38] Chr1:27094341 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3539+5G>A	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001330184]	Chr1:26772637 [GRCh38] Chr1:27099128 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4792C>T (p.Arg1598Cys)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001330185]	Chr1:26775019 [GRCh38] Chr1:27101510 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1026_1043dup (p.Ala349_Ser350insAlaAlaAlaAlaAlaAla)	duplication	not provided [RCV002284657]	Chr1:26697420..26697421 [GRCh38] Chr1:27023911..27023912 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5254A>G (p.Lys1752Glu)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001270783]	Chr1:26779152 [GRCh38] Chr1:27105643 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3198+2dup	duplication	Intellectual disability, autosomal dominant 14 [RCV001270408]	Chr1:26768000..26768001 [GRCh38] Chr1:27094491..27094492 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.122C>T (p.Ala41Val)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001420572]\|not provided [RCV003727995]	Chr1:26696525 [GRCh38] Chr1:27023016 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.4724C>A (p.Pro1575Gln)	single nucleotide variant	not provided [RCV001399356]	Chr1:26774951 [GRCh38] Chr1:27101442 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.764C>T (p.Ser255Phe)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001420542]	Chr1:26697167 [GRCh38] Chr1:27023658 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.175G>T (p.Glu59Ter)	single nucleotide variant	Non-immune hydrops fetalis [RCV001376026]	Chr1:26696578 [GRCh38] Chr1:27023069 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.373G>A (p.Gly125Ser)	single nucleotide variant	ARID1A-related disorder [RCV003941072]\|Intellectual disability, autosomal dominant 14 [RCV002260319]\|not provided [RCV001686411]	Chr1:26696776 [GRCh38] Chr1:27023267 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.4751A>G (p.Gln1584Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260260]\|not provided [RCV001654752]	Chr1:26774978 [GRCh38] Chr1:27101469 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.3407-45A>C	single nucleotide variant	not provided [RCV001687716]	Chr1:26772455 [GRCh38] Chr1:27098946 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.3046G>A (p.Gly1016Ser)	single nucleotide variant	ARID1A-related disorder [RCV003931292]\|not provided [RCV001716867]	Chr1:26767847 [GRCh38] Chr1:27094338 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.439G>C (p.Ala147Pro)	single nucleotide variant	not provided [RCV001665160]	Chr1:26696842 [GRCh38] Chr1:27023333 [GRCh37] Chr1:1p36.11	likely benign\|conflicting interpretations of pathogenicity
NM_006015.6(ARID1A):c.456A>G (p.Gln152=)	single nucleotide variant	ARID1A-related disorder [RCV003921199]\|not provided [RCV001538706]	Chr1:26696859 [GRCh38] Chr1:27023350 [GRCh37] Chr1:1p36.11	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_006015.6(ARID1A):c.1921-159dup	duplication	not provided [RCV001684716]	Chr1:26760686..26760687 [GRCh38] Chr1:27087177..27087178 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.504C>T (p.Val168=)	single nucleotide variant	not provided [RCV001686579]	Chr1:26696907 [GRCh38] Chr1:27023398 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.4004+35C>T	single nucleotide variant	not provided [RCV001587693]	Chr1:26773752 [GRCh38] Chr1:27100243 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.*21C>T	single nucleotide variant	not provided [RCV001652075]	Chr1:26780777 [GRCh38] Chr1:27107268 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.1921-158T>A	single nucleotide variant	not provided [RCV001674178]	Chr1:26760698 [GRCh38] Chr1:27087189 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.4152C>T (p.His1384=)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260326]\|not provided [RCV001687126]	Chr1:26774379 [GRCh38] Chr1:27100870 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.2420-18G>C	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260294]\|not provided [RCV001668046]	Chr1:26762955 [GRCh38] Chr1:27089446 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.1517C>G (p.Ser506Cys)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001591706]	Chr1:26731318 [GRCh38] Chr1:27057809 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.480C>T (p.Ala160=)	single nucleotide variant	not provided [RCV001531619]	Chr1:26696883 [GRCh38] Chr1:27023374 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002246413]\|not provided [RCV001531620]	Chr1:26767970 [GRCh38] Chr1:27094461 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.2870A>G (p.Asn957Ser)	single nucleotide variant	not provided [RCV001528730]\|not specified [RCV001821852]	Chr1:26766358 [GRCh38] Chr1:27092849 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001730831]\|not provided [RCV001539898]	Chr1:26771150 [GRCh38] Chr1:27097641 [GRCh37] Chr1:1p36.11	pathogenic\|likely pathogenic
NM_006015.6(ARID1A):c.1803+5G>C	single nucleotide variant	not provided [RCV001527345]	Chr1:26731609 [GRCh38] Chr1:27058100 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2194C>A (p.Gln732Lys)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001420562]\|not provided [RCV002291757]	Chr1:26761416 [GRCh38] Chr1:27087907 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1351-82C>T	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260430]	Chr1:26731070 [GRCh38] Chr1:27057561 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.935C>G (p.Pro312Arg)	single nucleotide variant	not provided [RCV001761039]	Chr1:26697338 [GRCh38] Chr1:27023829 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.4927C>A (p.Pro1643Thr)	single nucleotide variant	not specified [RCV002247009]	Chr1:26775154 [GRCh38] Chr1:27101645 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.421G>A (p.Ala141Thr)	single nucleotide variant	not provided [RCV003104556]	Chr1:26696824 [GRCh38] Chr1:27023315 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4135C>T (p.Pro1379Ser)	single nucleotide variant	not provided [RCV003127043]	Chr1:26774362 [GRCh38] Chr1:27100853 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1850C>A (p.Ser617Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001784779]	Chr1:26732722 [GRCh38] Chr1:27059213 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.1281G>A (p.Pro427=)	single nucleotide variant	not provided [RCV002104371]	Chr1:26729794 [GRCh38] Chr1:27056285 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6017G>A (p.Gly2006Glu)	single nucleotide variant	not provided [RCV001758570]	Chr1:26779915 [GRCh38] Chr1:27106406 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.579G>A (p.Glu193=)	single nucleotide variant	not provided [RCV001763969]	Chr1:26696982 [GRCh38] Chr1:27023473 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2091G>A (p.Pro697=)	single nucleotide variant	Inborn genetic diseases [RCV004040819]\|not provided [RCV001786008]	Chr1:26761026 [GRCh38] Chr1:27087517 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.281C>T (p.Pro94Leu)	single nucleotide variant	not provided [RCV001767039]	Chr1:26696684 [GRCh38] Chr1:27023175 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4865C>T (p.Ala1622Val)	single nucleotide variant	not provided [RCV001786265]	Chr1:26775092 [GRCh38] Chr1:27101583 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.595C>T (p.Gln199Ter)	single nucleotide variant	ARID1A-related disorder [RCV003401706]\|Intellectual disability, autosomal dominant 14 [RCV001775275]	Chr1:26696998 [GRCh38] Chr1:27023489 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.5408A>G (p.Glu1803Gly)	single nucleotide variant	not provided [RCV001752097]	Chr1:26779306 [GRCh38] Chr1:27105797 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5825G>A (p.Gly1942Asp)	single nucleotide variant	not provided [RCV001771088]	Chr1:26779723 [GRCh38] Chr1:27106214 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6071G>A (p.Arg2024Gln)	single nucleotide variant	not provided [RCV001772947]	Chr1:26779969 [GRCh38] Chr1:27106460 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3204C>A (p.Asn1068Lys)	single nucleotide variant	not provided [RCV001765048]	Chr1:26771124 [GRCh38] Chr1:27097615 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4882G>T (p.Ala1628Ser)	single nucleotide variant	not provided [RCV001771172]	Chr1:26775109 [GRCh38] Chr1:27101600 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1414A>C (p.Asn472His)	single nucleotide variant	not provided [RCV001787018]	Chr1:26731215 [GRCh38] Chr1:27057706 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2069C>T (p.Pro690Leu)	single nucleotide variant	not provided [RCV001771458]	Chr1:26761004 [GRCh38] Chr1:27087495 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5418C>G (p.Ile1806Met)	single nucleotide variant	not provided [RCV001765713]	Chr1:26779316 [GRCh38] Chr1:27105807 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3617C>T (p.Thr1206Ile)	single nucleotide variant	not provided [RCV001774448]	Chr1:26772889 [GRCh38] Chr1:27099380 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4168A>T (p.Ser1390Cys)	single nucleotide variant	not provided [RCV001754691]	Chr1:26774395 [GRCh38] Chr1:27100886 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.488C>T (p.Ala163Val)	single nucleotide variant	not provided [RCV001772871]	Chr1:26696891 [GRCh38] Chr1:27023382 [GRCh37] Chr1:1p36.11	conflicting interpretations of pathogenicity\|uncertain significance
NM_006015.6(ARID1A):c.4660C>T (p.Pro1554Ser)	single nucleotide variant	not provided [RCV001751826]	Chr1:26774887 [GRCh38] Chr1:27101378 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6027C>T (p.Leu2009=)	single nucleotide variant	not provided [RCV001774802]	Chr1:26779925 [GRCh38] Chr1:27106416 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5540G>A (p.Gly1847Asp)	single nucleotide variant	not provided [RCV001751983]	Chr1:26779438 [GRCh38] Chr1:27105929 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2732G>A (p.Arg911Lys)	single nucleotide variant	not provided [RCV001768993]	Chr1:26763285 [GRCh38] Chr1:27089776 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5005G>A (p.Ala1669Thr)	single nucleotide variant	not provided [RCV001768718]	Chr1:26775588 [GRCh38] Chr1:27102079 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.22G>A (p.Ala8Thr)	single nucleotide variant	not provided [RCV001774362]	Chr1:26696425 [GRCh38] Chr1:27022916 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2268C>A (p.Asn756Lys)	single nucleotide variant	not provided [RCV001770735]	Chr1:26762168 [GRCh38] Chr1:27088659 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4715A>G (p.Tyr1572Cys)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV003136140]\|not provided [RCV001771118]	Chr1:26774942 [GRCh38] Chr1:27101433 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.375_380dup (p.Gly126_Gly127dup)	duplication	not provided [RCV001761369]	Chr1:26696772..26696773 [GRCh38] Chr1:27023263..27023264 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2615T>C (p.Met872Thr)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV003136151]\|not provided [RCV001779599]	Chr1:26763168 [GRCh38] Chr1:27089659 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.5871C>A (p.Asp1957Glu)	single nucleotide variant	not provided [RCV001814915]	Chr1:26779769 [GRCh38] Chr1:27106260 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2693C>T (p.Ala898Val)	single nucleotide variant	not provided [RCV001806653]	Chr1:26763246 [GRCh38] Chr1:27089737 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4388G>A (p.Arg1463His)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001784175]	Chr1:26774615 [GRCh38] Chr1:27101106 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2122C>T (p.Gln708Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001784787]	Chr1:26761057 [GRCh38] Chr1:27087548 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.1327G>A (p.Gly443Ser)	single nucleotide variant	not provided [RCV001733494]	Chr1:26729840 [GRCh38] Chr1:27056331 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3220C>T (p.Arg1074Trp)	single nucleotide variant	not provided [RCV001794684]	Chr1:26771140 [GRCh38] Chr1:27097631 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1803+1G>C	single nucleotide variant	not provided [RCV001789725]	Chr1:26731605 [GRCh38] Chr1:27058096 [GRCh37] Chr1:1p36.11	not provided
NM_006015.6(ARID1A):c.4994-4dup	duplication	not provided [RCV001760871]	Chr1:26775570..26775571 [GRCh38] Chr1:27102061..27102062 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4101+1G>C	single nucleotide variant	not provided [RCV001733855]	Chr1:26773899 [GRCh38] Chr1:27100390 [GRCh37] Chr1:1p36.11	not provided
NM_006015.6(ARID1A):c.4994-2A>T	single nucleotide variant	not provided [RCV001799534]	Chr1:26775575 [GRCh38] Chr1:27102066 [GRCh37] Chr1:1p36.11	not provided
NM_006015.6(ARID1A):c.5305C>G (p.Leu1769Val)	single nucleotide variant	not specified [RCV001817416]	Chr1:26779203 [GRCh38] Chr1:27105694 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.66G>C (p.Ser22=)	single nucleotide variant	not provided [RCV001776623]	Chr1:26696469 [GRCh38] Chr1:27022960 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3199-27C>T	single nucleotide variant	not provided [RCV001756604]	Chr1:26771092 [GRCh38] Chr1:27097583 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.3671T>C (p.Met1224Thr)	single nucleotide variant	not provided [RCV001758661]	Chr1:26772943 [GRCh38] Chr1:27099434 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1822T>C (p.Phe608Leu)	single nucleotide variant	not provided [RCV001758524]	Chr1:26732694 [GRCh38] Chr1:27059185 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.513ACA[1] (p.Gln172del)	microsatellite	not specified [RCV001817737]	Chr1:26696914..26696916 [GRCh38] Chr1:27023405..27023407 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3519C>T (p.Ile1173=)	single nucleotide variant	not specified [RCV001819160]	Chr1:26772612 [GRCh38] Chr1:27099103 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5719A>G (p.Ile1907Val)	single nucleotide variant	not specified [RCV001819370]	Chr1:26779617 [GRCh38] Chr1:27106108 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1892G>C (p.Ser631Thr)	single nucleotide variant	not specified [RCV001819473]	Chr1:26732764 [GRCh38] Chr1:27059255 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6785C>T (p.Ser2262Leu)	single nucleotide variant	not provided [RCV001869695]\|not specified [RCV001819512]	Chr1:26780683 [GRCh38] Chr1:27107174 [GRCh37] Chr1:1p36.11	benign\|likely benign\|uncertain significance
NM_006015.6(ARID1A):c.261_275dup (p.Ala88_Gly92dup)	duplication	not provided [RCV001815667]	Chr1:26696656..26696657 [GRCh38] Chr1:27023147..27023148 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2512G>A (p.Gly838Arg)	single nucleotide variant	not provided [RCV003565500]\|not specified [RCV001820562]	Chr1:26763065 [GRCh38] Chr1:27089556 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.6252C>G (p.Val2084=)	single nucleotide variant	not provided [RCV003772328]\|not specified [RCV001822526]	Chr1:26780150 [GRCh38] Chr1:27106641 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.110G>A (p.Gly37Asp)	single nucleotide variant	not provided [RCV003669247]\|not specified [RCV001822597]	Chr1:26696513 [GRCh38] Chr1:27023004 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.3816G>A (p.Ala1272=)	single nucleotide variant	not provided [RCV003772335]\|not specified [RCV001822624]	Chr1:26773446 [GRCh38] Chr1:27099937 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.2818A>G (p.Met940Val)	single nucleotide variant	not specified [RCV001817669]	Chr1:26766306 [GRCh38] Chr1:27092797 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.666C>G (p.Tyr222Ter)	single nucleotide variant	not provided [RCV001817773]	Chr1:26697069 [GRCh38] Chr1:27023560 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.2172G>A (p.Met724Ile)	single nucleotide variant	not provided [RCV001806852]	Chr1:26761394 [GRCh38] Chr1:27087885 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.550C>T (p.Leu184=)	single nucleotide variant	not specified [RCV001819170]	Chr1:26696953 [GRCh38] Chr1:27023444 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4777C>T (p.Arg1593Trp)	single nucleotide variant	not provided [RCV001869699]\|not specified [RCV001819561]	Chr1:26775004 [GRCh38] Chr1:27101495 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.1440G>A (p.Gln480=)	single nucleotide variant	not specified [RCV001822474]	Chr1:26731241 [GRCh38] Chr1:27057732 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.587C>T (p.Ala196Val)	single nucleotide variant	Inborn genetic diseases [RCV003375365]\|not specified [RCV001822559]	Chr1:26696990 [GRCh38] Chr1:27023481 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4123G>A (p.Gly1375Ser)	single nucleotide variant	not provided [RCV003728036]\|not specified [RCV001822613]	Chr1:26774350 [GRCh38] Chr1:27100841 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2077C>A (p.Arg693=)	single nucleotide variant	not provided [RCV001950358]	Chr1:26761012 [GRCh38] Chr1:27087503 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.209G>T (p.Gly70Val)	single nucleotide variant	not provided [RCV002008892]	Chr1:26696612 [GRCh38] Chr1:27023103 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.385A>T (p.Ser129Cys)	single nucleotide variant	not provided [RCV001896238]	Chr1:26696788 [GRCh38] Chr1:27023279 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.5731A>G (p.Met1911Val)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001839098]	Chr1:26779629 [GRCh38] Chr1:27106120 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.914C>T (p.Ala305Val)	single nucleotide variant	not provided [RCV001914269]	Chr1:26697317 [GRCh38] Chr1:27023808 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1325T>C (p.Met442Thr)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001825203]	Chr1:26729838 [GRCh38] Chr1:27056329 [GRCh37] Chr1:1p36.11	not provided
NM_006015.6(ARID1A):c.5794G>A (p.Ala1932Thr)	single nucleotide variant	not provided [RCV002043478]	Chr1:26779692 [GRCh38] Chr1:27106183 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5012G>A (p.Arg1671Gln)	single nucleotide variant	ARID1A-related disorder [RCV004729038]\|not provided [RCV002040605]	Chr1:26775595 [GRCh38] Chr1:27102086 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.856A>G (p.Thr286Ala)	single nucleotide variant	not provided [RCV001987066]	Chr1:26697259 [GRCh38] Chr1:27023750 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.367_381dup (p.Gly123_Gly127dup)	duplication	not provided [RCV002042053]	Chr1:26696765..26696766 [GRCh38] Chr1:27023256..27023257 [GRCh37] Chr1:1p36.11	uncertain significance
GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3	copy number gain	not provided [RCV001829142]	Chr1:26246213..27044118 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.281C>A (p.Pro94His)	single nucleotide variant	not provided [RCV001947366]	Chr1:26696684 [GRCh38] Chr1:27023175 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6437A>G (p.Lys2146Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001843888]	Chr1:26780335 [GRCh38] Chr1:27106826 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.854G>A (p.Gly285Glu)	single nucleotide variant	not provided [RCV002002194]	Chr1:26697257 [GRCh38] Chr1:27023748 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5702G>A (p.Gly1901Glu)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001837359]	Chr1:26779600 [GRCh38] Chr1:27106091 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1126C>T (p.Arg376Trp)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001837401]\|not provided [RCV002545212]	Chr1:26697529 [GRCh38] Chr1:27024020 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.328A>G (p.Arg110Gly)	single nucleotide variant	not provided [RCV002020228]	Chr1:26696731 [GRCh38] Chr1:27023222 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2237T>A (p.Ile746Asn)	single nucleotide variant	Inborn genetic diseases [RCV004039096]\|not provided [RCV001887024]	Chr1:26761459 [GRCh38] Chr1:27087950 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4171G>A (p.Val1391Met)	single nucleotide variant	not provided [RCV002028190]	Chr1:26774398 [GRCh38] Chr1:27100889 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.6706C>T (p.Arg2236Cys)	single nucleotide variant	not provided [RCV002046892]	Chr1:26780604 [GRCh38] Chr1:27107095 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5125-5T>C	single nucleotide variant	not provided [RCV002016908]	Chr1:26779018 [GRCh38] Chr1:27105509 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.114GGC[7] (p.Ala44_Ala45dup)	microsatellite	not provided [RCV002029809]	Chr1:26696516..26696517 [GRCh38] Chr1:27023007..27023008 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.1753CAG[1] (p.Gln586del)	microsatellite	not provided [RCV002012169]	Chr1:26731554..26731556 [GRCh38] Chr1:27058045..27058047 [GRCh37] Chr1:1p36.11	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_006015.6(ARID1A):c.1833G>A (p.Gln611=)	single nucleotide variant	not provided [RCV001989282]	Chr1:26732705 [GRCh38] Chr1:27059196 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.359C>T (p.Pro120Leu)	single nucleotide variant	not provided [RCV001972189]	Chr1:26696762 [GRCh38] Chr1:27023253 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.1409A>C (p.Tyr470Ser)	single nucleotide variant	not provided [RCV002047738]	Chr1:26731210 [GRCh38] Chr1:27057701 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2078G>A (p.Arg693Gln)	single nucleotide variant	not provided [RCV001900245]	Chr1:26761013 [GRCh38] Chr1:27087504 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3692A>T (p.Asp1231Val)	single nucleotide variant	not provided [RCV001981200]	Chr1:26772964 [GRCh38] Chr1:27099455 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5299G>C (p.Glu1767Gln)	single nucleotide variant	not provided [RCV003412964]	Chr1:26779197 [GRCh38] Chr1:27105688 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.5247G>T (p.Arg1749Ser)	single nucleotide variant	not provided [RCV001866884]	Chr1:26779145 [GRCh38] Chr1:27105636 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.535C>G (p.Pro179Ala)	single nucleotide variant	not provided [RCV001923482]	Chr1:26696938 [GRCh38] Chr1:27023429 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.361C>T (p.Pro121Ser)	single nucleotide variant	not provided [RCV002050530]	Chr1:26696764 [GRCh38] Chr1:27023255 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.363CGG[5] (p.Gly127dup)	microsatellite	not provided [RCV001991666]	Chr1:26696765..26696766 [GRCh38] Chr1:27023256..27023257 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1324A>T (p.Met442Leu)	single nucleotide variant	not provided [RCV002030852]	Chr1:26729837 [GRCh38] Chr1:27056328 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3111C>T (p.Gly1037=)	single nucleotide variant	not provided [RCV002071811]	Chr1:26767912 [GRCh38] Chr1:27094403 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.3540-12C>T	single nucleotide variant	not provided [RCV002127267]	Chr1:26772800 [GRCh38] Chr1:27099291 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.1642C>T (p.Gln548Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV003883188]\|not provided [RCV002211082]	Chr1:26731443 [GRCh38] Chr1:27057934 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.4459G>A (p.Ala1487Thr)	single nucleotide variant	not provided [RCV002223606]	Chr1:26774686 [GRCh38] Chr1:27101177 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.331C>G (p.Pro111Ala)	single nucleotide variant	not provided [RCV002191850]	Chr1:26696734 [GRCh38] Chr1:27023225 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.1137+18dup	duplication	not provided [RCV002127363]	Chr1:26697554..26697555 [GRCh38] Chr1:27024045..27024046 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.6762C>T (p.Tyr2254=)	single nucleotide variant	ARID1A-related disorder [RCV003916287]\|not provided [RCV002124402]	Chr1:26780660 [GRCh38] Chr1:27107151 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4993+174C>T	single nucleotide variant	not provided [RCV002224164]	Chr1:26775394 [GRCh38] Chr1:27101885 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.900G>A (p.Thr300=)	single nucleotide variant	not provided [RCV002167770]	Chr1:26697303 [GRCh38] Chr1:27023794 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.541C>T (p.Leu181=)	single nucleotide variant	not provided [RCV002150478]	Chr1:26696944 [GRCh38] Chr1:27023435 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs)	deletion	Intellectual disability, autosomal dominant 14 [RCV002226560]	Chr1:26696496..26696505 [GRCh38] Chr1:27022987..27022996 [GRCh37] Chr1:1p36.11	pathogenic\|conflicting interpretations of pathogenicity
NM_006015.6(ARID1A):c.1529A>C (p.Gln510Pro)	single nucleotide variant	ARID1A-related disorder [RCV003958621]\|Inborn genetic diseases [RCV002993467]\|not provided [RCV002088060]	Chr1:26731330 [GRCh38] Chr1:27057821 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.2420-10C>A	single nucleotide variant	not provided [RCV002211864]	Chr1:26762963 [GRCh38] Chr1:27089454 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6481C>G (p.Pro2161Ala)	single nucleotide variant	not provided [RCV002113636]	Chr1:26780379 [GRCh38] Chr1:27106870 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.1935A>G (p.Ser645=)	single nucleotide variant	not provided [RCV002132637]	Chr1:26760870 [GRCh38] Chr1:27087361 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6291T>G (p.Ala2097=)	single nucleotide variant	not provided [RCV002193423]	Chr1:26780189 [GRCh38] Chr1:27106680 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.582C>T (p.Pro194=)	single nucleotide variant	not provided [RCV002078501]	Chr1:26696985 [GRCh38] Chr1:27023476 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.466C>A (p.Arg156=)	single nucleotide variant	not provided [RCV002122858]	Chr1:26696869 [GRCh38] Chr1:27023360 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.72G>C (p.Leu24=)	single nucleotide variant	not provided [RCV002177556]	Chr1:26696475 [GRCh38] Chr1:27022966 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4056C>T (p.Ser1352=)	single nucleotide variant	not provided [RCV002219302]	Chr1:26773853 [GRCh38] Chr1:27100344 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2109C>T (p.Pro703=)	single nucleotide variant	not provided [RCV002222836]	Chr1:26761044 [GRCh38] Chr1:27087535 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2319G>A (p.Pro773=)	single nucleotide variant	not provided [RCV002163676]	Chr1:26762219 [GRCh38] Chr1:27088710 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3926T>A (p.Leu1309His)	single nucleotide variant	not specified [RCV002246975]	Chr1:26773639 [GRCh38] Chr1:27100130 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4078A>G (p.Thr1360Ala)	single nucleotide variant	not specified [RCV002223090]	Chr1:26773875 [GRCh38] Chr1:27100366 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6711G>A (p.Ala2237=)	single nucleotide variant	not provided [RCV002164318]	Chr1:26780609 [GRCh38] Chr1:27107100 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5880C>T (p.His1960=)	single nucleotide variant	not provided [RCV002198998]	Chr1:26779778 [GRCh38] Chr1:27106269 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3539+16G>A	single nucleotide variant	not provided [RCV002136468]	Chr1:26772648 [GRCh38] Chr1:27099139 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4124G>C (p.Gly1375Ala)	single nucleotide variant	not provided [RCV002155230]	Chr1:26774351 [GRCh38] Chr1:27100842 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.3158G>A (p.Arg1053His)	single nucleotide variant	not provided [RCV002222809]	Chr1:26767959 [GRCh38] Chr1:27094450 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1647C>A (p.Pro549=)	single nucleotide variant	not provided [RCV002183122]	Chr1:26731448 [GRCh38] Chr1:27057939 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4659C>G (p.Pro1553=)	single nucleotide variant	not provided [RCV002179501]	Chr1:26774886 [GRCh38] Chr1:27101377 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.448T>C (p.Phe150Leu)	single nucleotide variant	not provided [RCV002217344]	Chr1:26696851 [GRCh38] Chr1:27023342 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.1124C>A (p.Ala375Asp)	single nucleotide variant	not provided [RCV003109890]	Chr1:26697527 [GRCh38] Chr1:27024018 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5745G>A (p.Leu1915=)	single nucleotide variant	not provided [RCV003110537]	Chr1:26779643 [GRCh38] Chr1:27106134 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3948G>A (p.Ser1316=)	single nucleotide variant	not provided [RCV003112530]	Chr1:26773661 [GRCh38] Chr1:27100152 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2650T>C (p.Cys884Arg)	single nucleotide variant	not provided [RCV003114737]	Chr1:26763203 [GRCh38] Chr1:27089694 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6192C>T (p.Leu2064=)	single nucleotide variant	not provided [RCV003115499]	Chr1:26780090 [GRCh38] Chr1:27106581 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1707A>G (p.Ala569=)	single nucleotide variant	not provided [RCV003115082]	Chr1:26731508 [GRCh38] Chr1:27057999 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.5942G>T (p.Cys1981Phe)	single nucleotide variant	not provided [RCV003123195]	Chr1:26779840 [GRCh38] Chr1:27106331 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5314A>G (p.Lys1772Glu)	single nucleotide variant	not provided [RCV003118751]	Chr1:26779212 [GRCh38] Chr1:27105703 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3497C>G (p.Ala1166Gly)	single nucleotide variant	not provided [RCV003120501]	Chr1:26772590 [GRCh38] Chr1:27099081 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6169C>T (p.Arg2057Trp)	single nucleotide variant	not specified [RCV003151619]	Chr1:26780067 [GRCh38] Chr1:27106558 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2660C>T (p.Pro887Leu)	single nucleotide variant	Clonal Cytopenia of Undetermined Significance [RCV003153263]	Chr1:26763213 [GRCh38] Chr1:27089704 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4082T>C (p.Met1361Thr)	single nucleotide variant	not provided [RCV003128997]	Chr1:26773879 [GRCh38] Chr1:27100370 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6736G>A (p.Glu2246Lys)	single nucleotide variant	not provided [RCV003129004]	Chr1:26780634 [GRCh38] Chr1:27107125 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3058A>T (p.Arg1020Trp)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002272890]	Chr1:26767859 [GRCh38] Chr1:27094350 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.6466A>G (p.Ser2156Gly)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002272887]	Chr1:26780364 [GRCh38] Chr1:27106855 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4538G>A (p.Ser1513Asn)	single nucleotide variant	not specified [RCV002247002]	Chr1:26774765 [GRCh38] Chr1:27101256 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.5438C>T (p.Pro1813Leu)	single nucleotide variant	not specified [RCV002247014]	Chr1:26779336 [GRCh38] Chr1:27105827 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.741C>G (p.Ala247=)	single nucleotide variant	not provided [RCV003149440]	Chr1:26697144 [GRCh38] Chr1:27023635 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.375T>C (p.Gly125=)	single nucleotide variant	not provided [RCV001583401]	Chr1:26696778 [GRCh38] Chr1:27023269 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4879C>G (p.Pro1627Ala)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002260277]\|not provided [RCV001668850]	Chr1:26775106 [GRCh38] Chr1:27101597 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.1602C>A (p.Tyr534Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001249721]	Chr1:26731403 [GRCh38] Chr1:27057894 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.4102-1G>C	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001252992]	Chr1:26774328 [GRCh38] Chr1:27100819 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.5104A>G (p.Met1702Val)	single nucleotide variant	Seizure [RCV001256127]	Chr1:26775687 [GRCh38] Chr1:27102178 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2852G>A (p.Gly951Asp)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001291774]	Chr1:26766340 [GRCh38] Chr1:27092831 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.289G>A (p.Glu97Lys)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001330180]	Chr1:26696692 [GRCh38] Chr1:27023183 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.326C>G (p.Pro109Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV001330182]	Chr1:26696729 [GRCh38] Chr1:27023220 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4049del (p.Ser1350fs)	deletion	Intellectual disability, autosomal dominant 14 [RCV001526605]	Chr1:26773846 [GRCh38] Chr1:27100337 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.791C>A (p.Ser264Ter)	single nucleotide variant	not provided [RCV001726742]	Chr1:26697194 [GRCh38] Chr1:27023685 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.2449G>C (p.Ala817Pro)	single nucleotide variant	not provided [RCV001726743]	Chr1:26763002 [GRCh38] Chr1:27089493 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.433C>T (p.Pro145Ser)	single nucleotide variant	not provided [RCV001755130]	Chr1:26696836 [GRCh38] Chr1:27023327 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2341A>G (p.Ile781Val)	single nucleotide variant	not provided [RCV001764127]	Chr1:26762241 [GRCh38] Chr1:27088732 [GRCh37] Chr1:1p36.11	likely pathogenic\|uncertain significance
NM_006015.6(ARID1A):c.6275C>A (p.Ala2092Glu)	single nucleotide variant	not provided [RCV003238101]	Chr1:26780173 [GRCh38] Chr1:27106664 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4085A>T (p.Tyr1362Phe)	single nucleotide variant	not provided [RCV003238102]	Chr1:26773882 [GRCh38] Chr1:27100373 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1786C>T (p.Arg596Cys)	single nucleotide variant	not provided [RCV001770579]	Chr1:26731587 [GRCh38] Chr1:27058078 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3426G>T (p.Gln1142His)	single nucleotide variant	not provided [RCV001814823]	Chr1:26772519 [GRCh38] Chr1:27099010 [GRCh37] Chr1:1p36.11	conflicting interpretations of pathogenicity\|uncertain significance
NM_006015.6(ARID1A):c.3539+1G>A	single nucleotide variant	not provided [RCV001799535]	Chr1:26772633 [GRCh38] Chr1:27099124 [GRCh37] Chr1:1p36.11	not provided
NM_006015.6(ARID1A):c.5745G>T (p.Leu1915Phe)	single nucleotide variant	ARID1A-related disorder [RCV003976220]\|not specified [RCV001817392]	Chr1:26779643 [GRCh38] Chr1:27106134 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5287GAA[3] (p.Glu1766_Glu1767del)	microsatellite	not provided [RCV001797216]	Chr1:26779185..26779190 [GRCh38] Chr1:27105676..27105681 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.624C>A (p.Pro208=)	single nucleotide variant	not provided [RCV002152287]	Chr1:26697027 [GRCh38] Chr1:27023518 [GRCh37] Chr1:1p36.11	likely benign
NC_000001.10:g.(?_27092692)_(27094510_?)del	deletion	not provided [RCV003116476]	Chr1:27092692..27094510 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.1056G>C (p.Gly352=)	single nucleotide variant	not provided [RCV003116167]	Chr1:26697459 [GRCh38] Chr1:27023950 [GRCh37] Chr1:1p36.11	likely benign
NC_000001.10:g.(?_25870190)_(27278871_?)dup	duplication	Retinitis pigmentosa 59 [RCV003122734]	Chr1:25870190..27278871 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4289A>G (p.Gln1430Arg)	single nucleotide variant	not provided [RCV003123271]	Chr1:26774516 [GRCh38] Chr1:27101007 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1015del (p.Ala339fs)	deletion	Intellectual disability, autosomal dominant 14 [RCV003149120]	Chr1:26697413 [GRCh38] Chr1:27023904 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.3234C>T (p.Thr1078=)	single nucleotide variant	not specified [RCV003151606]	Chr1:26771154 [GRCh38] Chr1:27097645 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3715+4A>T	single nucleotide variant	not provided [RCV003231767]	Chr1:26772991 [GRCh38] Chr1:27099482 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4868C>T (p.Ser1623Leu)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV003234839]	Chr1:26775095 [GRCh38] Chr1:27101586 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3155A>C (p.Tyr1052Ser)	single nucleotide variant	Neurodevelopmental delay [RCV002274409]	Chr1:26767956 [GRCh38] Chr1:27094447 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.148_149delinsTA (p.Met50Ter)	indel	not provided [RCV002275930]	Chr1:26696551..26696552 [GRCh38] Chr1:27023042..27023043 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.6322C>G (p.Pro2108Ala)	single nucleotide variant	not provided [RCV002265122]	Chr1:26780220 [GRCh38] Chr1:27106711 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1522C>T (p.Pro508Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002288362]	Chr1:26731323 [GRCh38] Chr1:27057814 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.380G>A (p.Gly127Asp)	single nucleotide variant	not provided [RCV002275746]	Chr1:26696783 [GRCh38] Chr1:27023274 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2878+5G>A	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002291161]	Chr1:26766371 [GRCh38] Chr1:27092862 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1619C>G (p.Thr540Arg)	single nucleotide variant	not provided [RCV002279086]	Chr1:26731420 [GRCh38] Chr1:27057911 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.242G>A (p.Gly81Glu)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002266758]	Chr1:26696645 [GRCh38] Chr1:27023136 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1652A>T (p.Tyr551Phe)	single nucleotide variant	not provided [RCV002281460]	Chr1:26731453 [GRCh38] Chr1:27057944 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.495_500del (p.Ala166_Ala167del)	deletion	Intellectual disability, autosomal dominant 14 [RCV002272585]	Chr1:26696893..26696898 [GRCh38] Chr1:27023384..27023389 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2660C>G (p.Pro887Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002279885]	Chr1:26763213 [GRCh38] Chr1:27089704 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5245A>C (p.Arg1749=)	single nucleotide variant	not provided [RCV002281355]	Chr1:26779143 [GRCh38] Chr1:27105634 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6203C>T (p.Ser2068Leu)	single nucleotide variant	not provided [RCV002265145]	Chr1:26780101 [GRCh38] Chr1:27106592 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3682C>T (p.Pro1228Ser)	single nucleotide variant	not provided [RCV002265475]	Chr1:26772954 [GRCh38] Chr1:27099445 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.185C>T (p.Ala62Val)	single nucleotide variant	not provided [RCV002287107]	Chr1:26696588 [GRCh38] Chr1:27023079 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3898_3899del (p.Met1300fs)	deletion	Intellectual disability, autosomal dominant 14 [RCV002288421]	Chr1:26773611..26773612 [GRCh38] Chr1:27100102..27100103 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.6625C>T (p.Gln2209Ter)	single nucleotide variant	Septo-optic dysplasia sequence [RCV002293593]	Chr1:26780523 [GRCh38] Chr1:27107014 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.3217T>C (p.Trp1073Arg)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002289146]	Chr1:26771137 [GRCh38] Chr1:27097628 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5398A>T (p.Asn1800Tyr)	single nucleotide variant	not provided [RCV002282994]	Chr1:26779296 [GRCh38] Chr1:27105787 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.48GCC[3] (p.Pro20_Pro21del)	microsatellite	not provided [RCV002274759]	Chr1:26696449..26696454 [GRCh38] Chr1:27022940..27022945 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.412T>C (p.Ser138Pro)	single nucleotide variant	not provided [RCV003236059]	Chr1:26696815 [GRCh38] Chr1:27023306 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4673C>T (p.Ser1558Phe)	single nucleotide variant	not provided [RCV002291926]	Chr1:26774900 [GRCh38] Chr1:27101391 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1920+3_1920+6del	deletion	Intellectual disability, autosomal dominant 14 [RCV002279913]	Chr1:26732793..26732796 [GRCh38] Chr1:27059284..27059287 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.292C>T (p.Pro98Ser)	single nucleotide variant	not provided [RCV002293764]	Chr1:26696695 [GRCh38] Chr1:27023186 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6230C>A (p.Pro2077His)	single nucleotide variant	not provided [RCV002269466]	Chr1:26780128 [GRCh38] Chr1:27106619 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5497C>T (p.Arg1833Cys)	single nucleotide variant	not provided [RCV002285902]	Chr1:26779395 [GRCh38] Chr1:27105886 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.187G>T (p.Val63Leu)	single nucleotide variant	Inborn genetic diseases [RCV003286222]	Chr1:26696590 [GRCh38] Chr1:27023081 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3067T>G (p.Trp1023Gly)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV003148535]	Chr1:26767868 [GRCh38] Chr1:27094359 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.4472T>C (p.Val1491Ala)	single nucleotide variant	not specified [RCV003151617]	Chr1:26774699 [GRCh38] Chr1:27101190 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6613G>A (p.Ala2205Thr)	single nucleotide variant	Inborn genetic diseases [RCV004064258]\|not provided [RCV002474193]	Chr1:26780511 [GRCh38] Chr1:27107002 [GRCh37] Chr1:1p36.11	likely benign\|conflicting interpretations of pathogenicity
NM_006015.6(ARID1A):c.5911del (p.Leu1971fs)	deletion	Lung cancer [RCV002465201]	Chr1:26779809 [GRCh38] Chr1:27106300 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.734C>A (p.Ala245Glu)	single nucleotide variant	not provided [RCV002302334]	Chr1:26697137 [GRCh38] Chr1:27023628 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5299_5301delinsCTT (p.Glu1767Leu)	indel	Intellectual disability, autosomal dominant 14 [RCV002471442]\|not provided [RCV003708692]	Chr1:26779197..26779199 [GRCh38] Chr1:27105688..27105690 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.1350+1G>T	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002471505]	Chr1:26729864 [GRCh38] Chr1:27056355 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2248C>T (p.Arg750Ter)	single nucleotide variant	Hepatocellular carcinoma [RCV002302714]	Chr1:26761470 [GRCh38] Chr1:27087961 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.2096C>G (p.Pro699Arg)	single nucleotide variant	not provided [RCV002505952]	Chr1:26761031 [GRCh38] Chr1:27087522 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5329G>T (p.Glu1777Ter)	single nucleotide variant	Inborn genetic diseases [RCV002346819]	Chr1:26779227 [GRCh38] Chr1:27105718 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.4429C>T (p.Pro1477Ser)	single nucleotide variant	not provided [RCV003129362]	Chr1:26774656 [GRCh38] Chr1:27101147 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.594C>T (p.Pro198=)	single nucleotide variant	Inborn genetic diseases [RCV002355970]	Chr1:26696997 [GRCh38] Chr1:27023488 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1251C>G (p.Tyr417Ter)	single nucleotide variant	Inborn genetic diseases [RCV002409998]	Chr1:26729764 [GRCh38] Chr1:27056255 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.971del (p.Gly324fs)	deletion	Inborn genetic diseases [RCV002376713]	Chr1:26697370 [GRCh38] Chr1:27023861 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.3826C>T (p.Arg1276Ter)	single nucleotide variant	Inborn genetic diseases [RCV002355362]	Chr1:26773456 [GRCh38] Chr1:27099947 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.649C>G (p.Pro217Ala)	single nucleotide variant	not provided [RCV002306318]	Chr1:26697052 [GRCh38] Chr1:27023543 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.575_579del (p.Leu192fs)	deletion	Hepatocellular carcinoma [RCV002302660]	Chr1:26696978..26696982 [GRCh38] Chr1:27023469..27023473 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.437del (p.Pro146fs)	deletion	Hepatocellular carcinoma [RCV002302724]	Chr1:26696836 [GRCh38] Chr1:27023327 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.3049G>T (p.Glu1017Ter)	single nucleotide variant	Hepatocellular carcinoma [RCV002302729]	Chr1:26767850 [GRCh38] Chr1:27094341 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.5895_5902del (p.Pro1966fs)	deletion	Hepatocellular carcinoma [RCV002302771]	Chr1:26779793..26779800 [GRCh38] Chr1:27106284..27106291 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.4726C>T (p.Pro1576Ser)	single nucleotide variant	not provided [RCV002300900]	Chr1:26774953 [GRCh38] Chr1:27101444 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2343del (p.His782fs)	deletion	Hepatocellular carcinoma [RCV002302808]	Chr1:26762243 [GRCh38] Chr1:27088734 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.3524del (p.Pro1175fs)	deletion	Hepatocellular carcinoma [RCV002302829]	Chr1:26772612 [GRCh38] Chr1:27099103 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.3325C>T (p.Arg1109Trp)	single nucleotide variant	Inborn genetic diseases [RCV002326415]	Chr1:26771245 [GRCh38] Chr1:27097736 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1951A>C (p.Met651Leu)	single nucleotide variant	not provided [RCV002301241]	Chr1:26760886 [GRCh38] Chr1:27087377 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.854dup (p.Thr286fs)	duplication	Inborn genetic diseases [RCV002414465]	Chr1:26697252..26697253 [GRCh38] Chr1:27023743..27023744 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.130G>C (p.Ala44Pro)	single nucleotide variant	not provided [RCV002300227]	Chr1:26696533 [GRCh38] Chr1:27023024 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2359T>C (p.Ser787Pro)	single nucleotide variant	not provided [RCV002300454]	Chr1:26762259 [GRCh38] Chr1:27088750 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4321G>A (p.Ala1441Thr)	single nucleotide variant	not provided [RCV002842116]	Chr1:26774548 [GRCh38] Chr1:27101039 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3357A>G (p.Ala1119=)	single nucleotide variant	not provided [RCV002681975]	Chr1:26771277 [GRCh38] Chr1:27097768 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.2809A>G (p.Met937Val)	single nucleotide variant	not provided [RCV003073697]	Chr1:26766297 [GRCh38] Chr1:27092788 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2971A>T (p.Thr991Ser)	single nucleotide variant	Inborn genetic diseases [RCV004073306]\|not provided [RCV003095768]	Chr1:26766549 [GRCh38] Chr1:27093040 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.5660G>A (p.Gly1887Asp)	single nucleotide variant	not provided [RCV002857995]	Chr1:26779558 [GRCh38] Chr1:27106049 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5753G>C (p.Arg1918Pro)	single nucleotide variant	not provided [RCV002686239]	Chr1:26779651 [GRCh38] Chr1:27106142 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1330G>A (p.Gly444Ser)	single nucleotide variant	not provided [RCV002615252]	Chr1:26729843 [GRCh38] Chr1:27056334 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.5609C>T (p.Pro1870Leu)	single nucleotide variant	not provided [RCV002843526]	Chr1:26779507 [GRCh38] Chr1:27105998 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2733-12C>T	single nucleotide variant	not provided [RCV002755515]	Chr1:26766209 [GRCh38] Chr1:27092700 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2543C>A (p.Pro848Gln)	single nucleotide variant	not provided [RCV002462548]	Chr1:26763096 [GRCh38] Chr1:27089587 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2420-9C>T	single nucleotide variant	not provided [RCV002755870]	Chr1:26762964 [GRCh38] Chr1:27089455 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2129G>A (p.Arg710His)	single nucleotide variant	not provided [RCV002690071]	Chr1:26761064 [GRCh38] Chr1:27087555 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.3263C>G (p.Ala1088Gly)	single nucleotide variant	Inborn genetic diseases [RCV002865383]	Chr1:26771183 [GRCh38] Chr1:27097674 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.75G>A (p.Lys25=)	single nucleotide variant	not provided [RCV002614179]	Chr1:26696478 [GRCh38] Chr1:27022969 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.524G>A (p.Gly175Glu)	single nucleotide variant	not provided [RCV003013844]	Chr1:26696927 [GRCh38] Chr1:27023418 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4685C>T (p.Pro1562Leu)	single nucleotide variant	not provided [RCV003032390]	Chr1:26774912 [GRCh38] Chr1:27101403 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.202C>T (p.Pro68Ser)	single nucleotide variant	Inborn genetic diseases [RCV002817560]	Chr1:26696605 [GRCh38] Chr1:27023096 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4403C>T (p.Pro1468Leu)	single nucleotide variant	Inborn genetic diseases [RCV002859840]	Chr1:26774630 [GRCh38] Chr1:27101121 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3613A>G (p.Met1205Val)	single nucleotide variant	Inborn genetic diseases [RCV002773064]\|not provided [RCV003777757]	Chr1:26772885 [GRCh38] Chr1:27099376 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1381G>A (p.Gly461Arg)	single nucleotide variant	not provided [RCV002511327]	Chr1:26731182 [GRCh38] Chr1:27057673 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.691C>T (p.Leu231=)	single nucleotide variant	not provided [RCV003015018]	Chr1:26697094 [GRCh38] Chr1:27023585 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2989-3C>G	single nucleotide variant	not provided [RCV002512503]	Chr1:26767787 [GRCh38] Chr1:27094278 [GRCh37] Chr1:1p36.11	not provided
NM_006015.6(ARID1A):c.1882A>G (p.Met628Val)	single nucleotide variant	not provided [RCV002819413]	Chr1:26732754 [GRCh38] Chr1:27059245 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4807A>G (p.Lys1603Glu)	single nucleotide variant	not provided [RCV002462477]	Chr1:26775034 [GRCh38] Chr1:27101525 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2614A>G (p.Met872Val)	single nucleotide variant	Inborn genetic diseases [RCV002794138]	Chr1:26763167 [GRCh38] Chr1:27089658 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5298A>G (p.Glu1766=)	single nucleotide variant	not provided [RCV002880842]	Chr1:26779196 [GRCh38] Chr1:27105687 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4991T>C (p.Ile1664Thr)	single nucleotide variant	Inborn genetic diseases [RCV002688838]	Chr1:26775218 [GRCh38] Chr1:27101709 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2383A>T (p.Ser795Cys)	single nucleotide variant	not provided [RCV002511506]	Chr1:26762283 [GRCh38] Chr1:27088774 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2279C>G (p.Pro760Arg)	single nucleotide variant	Inborn genetic diseases [RCV002778278]	Chr1:26762179 [GRCh38] Chr1:27088670 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2280C>T (p.Pro760=)	single nucleotide variant	not provided [RCV002842496]	Chr1:26762180 [GRCh38] Chr1:27088671 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.*3G>A	single nucleotide variant	not provided [RCV002461688]	Chr1:26780759 [GRCh38] Chr1:27107250 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1247G>T (p.Gly416Val)	single nucleotide variant	not provided [RCV002461855]	Chr1:26729760 [GRCh38] Chr1:27056251 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.422C>G (p.Ala141Gly)	single nucleotide variant	not provided [RCV002461856]	Chr1:26696825 [GRCh38] Chr1:27023316 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2983T>C (p.Ser995Pro)	single nucleotide variant	not provided [RCV003002889]	Chr1:26766561 [GRCh38] Chr1:27093052 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3866+17C>T	single nucleotide variant	not provided [RCV002695077]	Chr1:26773513 [GRCh38] Chr1:27100004 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.729GGC[2] (p.Ala247del)	microsatellite	not provided [RCV002785450]	Chr1:26697130..26697132 [GRCh38] Chr1:27023621..27023623 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2500C>T (p.Pro834Ser)	single nucleotide variant	Inborn genetic diseases [RCV002848629]\|not provided [RCV003660979]	Chr1:26763053 [GRCh38] Chr1:27089544 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5328AGA[2] (p.Glu1780del)	microsatellite	not provided [RCV002800479]	Chr1:26779224..26779226 [GRCh38] Chr1:27105715..27105717 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2347A>G (p.Thr783Ala)	single nucleotide variant	not provided [RCV002571654]	Chr1:26762247 [GRCh38] Chr1:27088738 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.6644T>C (p.Leu2215Pro)	single nucleotide variant	not provided [RCV002622292]	Chr1:26780542 [GRCh38] Chr1:27107033 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1483C>A (p.His495Asn)	single nucleotide variant	ARID1A-related disorder [RCV004747102]\|not provided [RCV002622232]	Chr1:26731284 [GRCh38] Chr1:27057775 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.5683G>C (p.Glu1895Gln)	single nucleotide variant	not provided [RCV002825162]	Chr1:26779581 [GRCh38] Chr1:27106072 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2199G>A (p.Ser733=)	single nucleotide variant	not provided [RCV002591953]	Chr1:26761421 [GRCh38] Chr1:27087912 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.2161+6C>G	single nucleotide variant	not provided [RCV002909209]	Chr1:26761102 [GRCh38] Chr1:27087593 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.5448C>G (p.Ile1816Met)	single nucleotide variant	Inborn genetic diseases [RCV002708241]	Chr1:26779346 [GRCh38] Chr1:27105837 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.658A>C (p.Ser220Arg)	single nucleotide variant	Inborn genetic diseases [RCV002707773]	Chr1:26697061 [GRCh38] Chr1:27023552 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2110G>A (p.Ala704Thr)	single nucleotide variant	not provided [RCV002638623]	Chr1:26761045 [GRCh38] Chr1:27087536 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.2581G>A (p.Ala861Thr)	single nucleotide variant	not provided [RCV002619061]	Chr1:26763134 [GRCh38] Chr1:27089625 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.810C>T (p.Arg270=)	single nucleotide variant	not provided [RCV002591453]	Chr1:26697213 [GRCh38] Chr1:27023704 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.622C>T (p.Pro208Ser)	single nucleotide variant	not provided [RCV002638497]	Chr1:26697025 [GRCh38] Chr1:27023516 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.2177C>T (p.Pro726Leu)	single nucleotide variant	not provided [RCV002694950]	Chr1:26761399 [GRCh38] Chr1:27087890 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5435T>C (p.Leu1812Pro)	single nucleotide variant	not provided [RCV003053486]	Chr1:26779333 [GRCh38] Chr1:27105824 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2804_2806del (p.Asn935del)	deletion	not provided [RCV002912619]	Chr1:26766290..26766292 [GRCh38] Chr1:27092781..27092783 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.2301C>T (p.Pro767=)	single nucleotide variant	not provided [RCV002570030]	Chr1:26762201 [GRCh38] Chr1:27088692 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5149G>A (p.Val1717Ile)	single nucleotide variant	Inborn genetic diseases [RCV002661361]	Chr1:26779047 [GRCh38] Chr1:27105538 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4684C>T (p.Pro1562Ser)	single nucleotide variant	not provided [RCV003100441]	Chr1:26774911 [GRCh38] Chr1:27101402 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5818C>A (p.Pro1940Thr)	single nucleotide variant	not provided [RCV003037058]	Chr1:26779716 [GRCh38] Chr1:27106207 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2419+10_2419+21del	deletion	ARID1A-related disorder [RCV003936280]\|not provided [RCV002621115]	Chr1:26762329..26762340 [GRCh38] Chr1:27088820..27088831 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.5886G>A (p.Lys1962=)	single nucleotide variant	not provided [RCV002636705]	Chr1:26779784 [GRCh38] Chr1:27106275 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.4915A>T (p.Ile1639Phe)	single nucleotide variant	not provided [RCV002659384]	Chr1:26775142 [GRCh38] Chr1:27101633 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5533C>T (p.Arg1845Trp)	single nucleotide variant	Inborn genetic diseases [RCV002692504]\|not provided [RCV003777661]	Chr1:26779431 [GRCh38] Chr1:27105922 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.4563del (p.Ala1522fs)	deletion	not provided [RCV003018945]	Chr1:26774787 [GRCh38] Chr1:27101278 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.6046C>T (p.Leu2016=)	single nucleotide variant	not provided [RCV002639542]	Chr1:26779944 [GRCh38] Chr1:27106435 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.879C>A (p.Pro293=)	single nucleotide variant	not provided [RCV002658758]	Chr1:26697282 [GRCh38] Chr1:27023773 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1243C>T (p.His415Tyr)	single nucleotide variant	not provided [RCV003036827]	Chr1:26729756 [GRCh38] Chr1:27056247 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6597A>G (p.Leu2199=)	single nucleotide variant	not provided [RCV002639246]	Chr1:26780495 [GRCh38] Chr1:27106986 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2038C>T (p.Pro680Ser)	single nucleotide variant	not provided [RCV002780223]	Chr1:26760973 [GRCh38] Chr1:27087464 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.2251+7G>C	single nucleotide variant	not provided [RCV002639995]	Chr1:26761480 [GRCh38] Chr1:27087971 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6695G>A (p.Arg2232Gln)	single nucleotide variant	not provided [RCV002618973]	Chr1:26780593 [GRCh38] Chr1:27107084 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1799C>T (p.Pro600Leu)	single nucleotide variant	not provided [RCV002590392]	Chr1:26731600 [GRCh38] Chr1:27058091 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1649C>G (p.Pro550Arg)	single nucleotide variant	Inborn genetic diseases [RCV002782442]\|not provided [RCV003546883]	Chr1:26731450 [GRCh38] Chr1:27057941 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.3760G>A (p.Gly1254Ser)	single nucleotide variant	not provided [RCV003081230]	Chr1:26773390 [GRCh38] Chr1:27099881 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.497C>T (p.Ala166Val)	single nucleotide variant	Inborn genetic diseases [RCV002661591]\|not provided [RCV003777616]	Chr1:26696900 [GRCh38] Chr1:27023391 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.4455A>G (p.Ile1485Met)	single nucleotide variant	not provided [RCV002690984]	Chr1:26774682 [GRCh38] Chr1:27101173 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.906C>A (p.Pro302=)	single nucleotide variant	not provided [RCV002622021]	Chr1:26697309 [GRCh38] Chr1:27023800 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2697C>T (p.Val899=)	single nucleotide variant	not provided [RCV002706094]	Chr1:26763250 [GRCh38] Chr1:27089741 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.584A>T (p.Tyr195Phe)	single nucleotide variant	not provided [RCV002843973]	Chr1:26696987 [GRCh38] Chr1:27023478 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3866+7A>T	single nucleotide variant	not provided [RCV003078527]	Chr1:26773503 [GRCh38] Chr1:27099994 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1952T>C (p.Met651Thr)	single nucleotide variant	Inborn genetic diseases [RCV002692715]	Chr1:26760887 [GRCh38] Chr1:27087378 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6652A>T (p.Met2218Leu)	single nucleotide variant	ARID1A-related disorder [RCV003418712]\|not provided [RCV003038828]	Chr1:26780550 [GRCh38] Chr1:27107041 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.1791C>T (p.Phe597=)	single nucleotide variant	ARID1A-related disorder [RCV003973687]\|not provided [RCV002596026]	Chr1:26731592 [GRCh38] Chr1:27058083 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.483C>T (p.Val161=)	single nucleotide variant	not provided [RCV002958304]	Chr1:26696886 [GRCh38] Chr1:27023377 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.321G>A (p.Ala107=)	single nucleotide variant	not provided [RCV002626639]	Chr1:26696724 [GRCh38] Chr1:27023215 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1738C>A (p.Pro580Thr)	single nucleotide variant	not provided [RCV002576465]	Chr1:26731539 [GRCh38] Chr1:27058030 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1206G>A (p.Ser402=)	single nucleotide variant	not provided [RCV003007190]	Chr1:26729719 [GRCh38] Chr1:27056210 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3464C>T (p.Ala1155Val)	single nucleotide variant	not provided [RCV002741348]	Chr1:26772557 [GRCh38] Chr1:27099048 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.4888G>A (p.Val1630Met)	single nucleotide variant	not provided [RCV003026039]	Chr1:26775115 [GRCh38] Chr1:27101606 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2098G>A (p.Val700Ile)	single nucleotide variant	not provided [RCV002643648]	Chr1:26761033 [GRCh38] Chr1:27087524 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2448T>C (p.Asn816=)	single nucleotide variant	not provided [RCV002875801]	Chr1:26763001 [GRCh38] Chr1:27089492 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1861A>T (p.Ser621Cys)	single nucleotide variant	not provided [RCV003059925]	Chr1:26732733 [GRCh38] Chr1:27059224 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6093T>C (p.Tyr2031=)	single nucleotide variant	not provided [RCV002596042]	Chr1:26779991 [GRCh38] Chr1:27106482 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2673C>T (p.Asn891=)	single nucleotide variant	not provided [RCV002983035]	Chr1:26763226 [GRCh38] Chr1:27089717 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.450C>T (p.Phe150=)	single nucleotide variant	not provided [RCV002574000]	Chr1:26696853 [GRCh38] Chr1:27023344 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3793G>A (p.Gly1265Ser)	single nucleotide variant	Inborn genetic diseases [RCV002915688]\|not provided [RCV003777939]	Chr1:26773423 [GRCh38] Chr1:27099914 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.1029_1040dup (p.Ala349_Ser350insAlaAlaAlaAla)	duplication	not provided [RCV002786558]	Chr1:26697423..26697424 [GRCh38] Chr1:27023914..27023915 [GRCh37] Chr1:1p36.11	likely benign\|conflicting interpretations of pathogenicity
NM_006015.6(ARID1A):c.2763G>A (p.Gly921=)	single nucleotide variant	not provided [RCV003082158]	Chr1:26766251 [GRCh38] Chr1:27092742 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.366C>T (p.Gly122=)	single nucleotide variant	not provided [RCV002625625]	Chr1:26696769 [GRCh38] Chr1:27023260 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5309G>T (p.Gly1770Val)	single nucleotide variant	not provided [RCV002664155]	Chr1:26779207 [GRCh38] Chr1:27105698 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2252-14C>G	single nucleotide variant	not provided [RCV002786623]	Chr1:26762138 [GRCh38] Chr1:27088629 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6189A>G (p.Thr2063=)	single nucleotide variant	not provided [RCV002663678]	Chr1:26780087 [GRCh38] Chr1:27106578 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6744C>G (p.His2248Gln)	single nucleotide variant	not provided [RCV002802051]	Chr1:26780642 [GRCh38] Chr1:27107133 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.1280C>T (p.Pro427Leu)	single nucleotide variant	not provided [RCV002740778]	Chr1:26729793 [GRCh38] Chr1:27056284 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.429G>A (p.Leu143=)	single nucleotide variant	not provided [RCV002828578]	Chr1:26696832 [GRCh38] Chr1:27023323 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4087C>T (p.Gln1363Ter)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV002789982]	Chr1:26773884 [GRCh38] Chr1:27100375 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.4347C>T (p.Gly1449=)	single nucleotide variant	not provided [RCV003083068]	Chr1:26774574 [GRCh38] Chr1:27101065 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.6681T>C (p.Ser2227=)	single nucleotide variant	not provided [RCV002914831]	Chr1:26780579 [GRCh38] Chr1:27107070 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2318C>T (p.Pro773Leu)	single nucleotide variant	Inborn genetic diseases [RCV002767576]	Chr1:26762218 [GRCh38] Chr1:27088709 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.489C>T (p.Ala163=)	single nucleotide variant	not provided [RCV002871713]	Chr1:26696892 [GRCh38] Chr1:27023383 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.317A>G (p.Asn106Ser)	single nucleotide variant	Inborn genetic diseases [RCV002572550]\|not provided [RCV002572549]	Chr1:26696720 [GRCh38] Chr1:27023211 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.977G>C (p.Gly326Ala)	single nucleotide variant	not provided [RCV002982315]	Chr1:26697380 [GRCh38] Chr1:27023871 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6712C>T (p.Leu2238=)	single nucleotide variant	not provided [RCV002644198]	Chr1:26780610 [GRCh38] Chr1:27107101 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4932C>G (p.Gly1644=)	single nucleotide variant	not provided [RCV002918090]	Chr1:26775159 [GRCh38] Chr1:27101650 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2594A>G (p.Asn865Ser)	single nucleotide variant	not provided [RCV002958006]	Chr1:26763147 [GRCh38] Chr1:27089638 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2180G>T (p.Arg727Leu)	single nucleotide variant	not provided [RCV003007808]	Chr1:26761402 [GRCh38] Chr1:27087893 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3920C>T (p.Pro1307Leu)	single nucleotide variant	Inborn genetic diseases [RCV002984458]\|not provided [RCV003778523]	Chr1:26773633 [GRCh38] Chr1:27100124 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.2T>G (p.Met1Arg)	single nucleotide variant	not provided [RCV002853169]	Chr1:26696405 [GRCh38] Chr1:27022896 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2804A>G (p.Asn935Ser)	single nucleotide variant	not provided [RCV002932418]	Chr1:26766292 [GRCh38] Chr1:27092783 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1641C>T (p.Ser547=)	single nucleotide variant	not provided [RCV002596144]	Chr1:26731442 [GRCh38] Chr1:27057933 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.3936C>A (p.Ser1312=)	single nucleotide variant	not provided [RCV002983028]	Chr1:26773649 [GRCh38] Chr1:27100140 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2251+7G>T	single nucleotide variant	not provided [RCV002625669]	Chr1:26761480 [GRCh38] Chr1:27087971 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5125-17G>T	single nucleotide variant	not provided [RCV003024643]	Chr1:26779006 [GRCh38] Chr1:27105497 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4950G>T (p.Gln1650His)	single nucleotide variant	not provided [RCV003057439]	Chr1:26775177 [GRCh38] Chr1:27101668 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.873C>T (p.Ala291=)	single nucleotide variant	not provided [RCV002958619]	Chr1:26697276 [GRCh38] Chr1:27023767 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5205G>A (p.Glu1735=)	single nucleotide variant	not provided [RCV002850888]	Chr1:26779103 [GRCh38] Chr1:27105594 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2267A>G (p.Asn756Ser)	single nucleotide variant	Inborn genetic diseases [RCV002697628]	Chr1:26762167 [GRCh38] Chr1:27088658 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6661C>A (p.Pro2221Thr)	single nucleotide variant	Inborn genetic diseases [RCV002874702]	Chr1:26780559 [GRCh38] Chr1:27107050 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1942G>A (p.Asp648Asn)	single nucleotide variant	not provided [RCV002741840]	Chr1:26760877 [GRCh38] Chr1:27087368 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6097A>G (p.Lys2033Glu)	single nucleotide variant	Inborn genetic diseases [RCV002893091]	Chr1:26779995 [GRCh38] Chr1:27106486 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5088T>C (p.Tyr1696=)	single nucleotide variant	not provided [RCV002966904]	Chr1:26775671 [GRCh38] Chr1:27102162 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.666C>T (p.Tyr222=)	single nucleotide variant	not provided [RCV002631549]	Chr1:26697069 [GRCh38] Chr1:27023560 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.897C>T (p.Leu299=)	single nucleotide variant	not provided [RCV003088696]	Chr1:26697300 [GRCh38] Chr1:27023791 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2312T>C (p.Leu771Ser)	single nucleotide variant	not provided [RCV002811659]	Chr1:26762212 [GRCh38] Chr1:27088703 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.997G>T (p.Ala333Ser)	single nucleotide variant	not provided [RCV002582041]	Chr1:26697400 [GRCh38] Chr1:27023891 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.649C>T (p.Pro217Ser)	single nucleotide variant	Inborn genetic diseases [RCV002579053]\|not provided [RCV002579054]	Chr1:26697052 [GRCh38] Chr1:27023543 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.4451C>A (p.Pro1484His)	single nucleotide variant	not provided [RCV003030909]	Chr1:26774678 [GRCh38] Chr1:27101169 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6607C>T (p.Leu2203Phe)	single nucleotide variant	not provided [RCV002811633]	Chr1:26780505 [GRCh38] Chr1:27106996 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1734G>A (p.Ala578=)	single nucleotide variant	ARID1A-related disorder [RCV003943773]\|not provided [RCV003091464]	Chr1:26731535 [GRCh38] Chr1:27058026 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1710C>T (p.Pro570=)	single nucleotide variant	not provided [RCV002715731]	Chr1:26731511 [GRCh38] Chr1:27058002 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2733-16C>G	single nucleotide variant	not provided [RCV002581197]	Chr1:26766205 [GRCh38] Chr1:27092696 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1562A>G (p.Gln521Arg)	single nucleotide variant	not provided [RCV002602389]	Chr1:26731363 [GRCh38] Chr1:27057854 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.213G>A (p.Lys71=)	single nucleotide variant	not provided [RCV002630818]	Chr1:26696616 [GRCh38] Chr1:27023107 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3961C>T (p.Pro1321Ser)	single nucleotide variant	Inborn genetic diseases [RCV002935920]	Chr1:26773674 [GRCh38] Chr1:27100165 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.949A>G (p.Ser317Gly)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV004594670]\|not provided [RCV002602261]	Chr1:26697352 [GRCh38] Chr1:27023843 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2812G>A (p.Ala938Thr)	single nucleotide variant	not provided [RCV002631631]	Chr1:26766300 [GRCh38] Chr1:27092791 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2309C>T (p.Ala770Val)	single nucleotide variant	Inborn genetic diseases [RCV002812960]	Chr1:26762209 [GRCh38] Chr1:27088700 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.325C>T (p.Pro109Ser)	single nucleotide variant	Inborn genetic diseases [RCV003250755]\|not provided [RCV003091643]	Chr1:26696728 [GRCh38] Chr1:27023219 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.3560T>C (p.Ile1187Thr)	single nucleotide variant	Inborn genetic diseases [RCV002672894]	Chr1:26772832 [GRCh38] Chr1:27099323 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1350+13T>C	single nucleotide variant	not provided [RCV002577720]	Chr1:26729876 [GRCh38] Chr1:27056367 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.711C>T (p.Gly237=)	single nucleotide variant	not provided [RCV002746486]	Chr1:26697114 [GRCh38] Chr1:27023605 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3441C>A (p.Pro1147=)	single nucleotide variant	not provided [RCV002877017]	Chr1:26772534 [GRCh38] Chr1:27099025 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6516C>T (p.Ala2172=)	single nucleotide variant	not provided [RCV002628234]	Chr1:26780414 [GRCh38] Chr1:27106905 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.374G>T (p.Gly125Val)	single nucleotide variant	Inborn genetic diseases [RCV002672895]	Chr1:26696777 [GRCh38] Chr1:27023268 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.207G>A (p.Leu69=)	single nucleotide variant	not provided [RCV002576595]	Chr1:26696610 [GRCh38] Chr1:27023101 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5635C>T (p.Arg1879Trp)	single nucleotide variant	not provided [RCV002577961]	Chr1:26779533 [GRCh38] Chr1:27106024 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.2619C>T (p.Ala873=)	single nucleotide variant	not provided [RCV003044608]	Chr1:26763172 [GRCh38] Chr1:27089663 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5419A>G (p.Ser1807Gly)	single nucleotide variant	not provided [RCV002600482]	Chr1:26779317 [GRCh38] Chr1:27105808 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6326A>G (p.Asn2109Ser)	single nucleotide variant	not provided [RCV003089253]	Chr1:26780224 [GRCh38] Chr1:27106715 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.5097C>T (p.Asn1699=)	single nucleotide variant	not provided [RCV002717118]	Chr1:26775680 [GRCh38] Chr1:27102171 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6801G>T (p.Met2267Ile)	single nucleotide variant	not provided [RCV002630384]	Chr1:26780699 [GRCh38] Chr1:27107190 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.2571G>T (p.Arg857Ser)	single nucleotide variant	Inborn genetic diseases [RCV002669061]	Chr1:26763124 [GRCh38] Chr1:27089615 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5922G>A (p.Gln1974=)	single nucleotide variant	not provided [RCV003059986]	Chr1:26779820 [GRCh38] Chr1:27106311 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2694T>C (p.Ala898=)	single nucleotide variant	not provided [RCV003008431]	Chr1:26763247 [GRCh38] Chr1:27089738 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4101+19A>C	single nucleotide variant	not provided [RCV003030041]	Chr1:26773917 [GRCh38] Chr1:27100408 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4818C>T (p.Phe1606=)	single nucleotide variant	ARID1A-related disorder [RCV003973437]\|not provided [RCV002601070]	Chr1:26775045 [GRCh38] Chr1:27101536 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2732+18G>C	single nucleotide variant	not provided [RCV002577761]	Chr1:26763303 [GRCh38] Chr1:27089794 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6197A>G (p.Asn2066Ser)	single nucleotide variant	not provided [RCV002672053]	Chr1:26780095 [GRCh38] Chr1:27106586 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.540C>T (p.Gly180=)	single nucleotide variant	not provided [RCV002580049]	Chr1:26696943 [GRCh38] Chr1:27023434 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.1803+11C>T	single nucleotide variant	not provided [RCV003046990]	Chr1:26731615 [GRCh38] Chr1:27058106 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.710G>C (p.Gly237Ala)	single nucleotide variant	not provided [RCV002675708]	Chr1:26697113 [GRCh38] Chr1:27023604 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2799G>T (p.Gly933=)	single nucleotide variant	not provided [RCV002962067]	Chr1:26766287 [GRCh38] Chr1:27092778 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5236G>A (p.Asp1746Asn)	single nucleotide variant	not provided [RCV003129305]	Chr1:26779134 [GRCh38] Chr1:27105625 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4064C>A (p.Pro1355His)	single nucleotide variant	not provided [RCV002260833]	Chr1:26773861 [GRCh38] Chr1:27100352 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6238A>G (p.Ile2080Val)	single nucleotide variant	not provided [RCV003236197]	Chr1:26780136 [GRCh38] Chr1:27106627 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2011G>A (p.Gly671Arg)	single nucleotide variant	not provided [RCV002283013]	Chr1:26760946 [GRCh38] Chr1:27087437 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4G>A (p.Ala2Thr)	single nucleotide variant	not provided [RCV002288160]	Chr1:26696407 [GRCh38] Chr1:27022898 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5400T>C (p.Asn1800=)	single nucleotide variant	not provided [RCV002967685]	Chr1:26779298 [GRCh38] Chr1:27105789 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5266C>T (p.Pro1756Ser)	single nucleotide variant	Inborn genetic diseases [RCV003171014]\|not provided [RCV003073988]	Chr1:26779164 [GRCh38] Chr1:27105655 [GRCh37] Chr1:1p36.11	benign\|uncertain significance
NM_006015.6(ARID1A):c.783GTC[1] (p.Ser265del)	microsatellite	not provided [RCV002972696]	Chr1:26697184..26697186 [GRCh38] Chr1:27023675..27023677 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.860C>T (p.Pro287Leu)	single nucleotide variant	not provided [RCV003011937]	Chr1:26697263 [GRCh38] Chr1:27023754 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4101+14C>T	single nucleotide variant	not provided [RCV002771559]	Chr1:26773912 [GRCh38] Chr1:27100403 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5330_5341del (p.Glu1777_Glu1780del)	deletion	not provided [RCV002751328]	Chr1:26779217..26779228 [GRCh38] Chr1:27105708..27105719 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.91C>G (p.Gln31Glu)	single nucleotide variant	Inborn genetic diseases [RCV002771769]	Chr1:26696494 [GRCh38] Chr1:27022985 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.116C>T (p.Ala39Val)	single nucleotide variant	not provided [RCV002617782]	Chr1:26696519 [GRCh38] Chr1:27023010 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.3242A>G (p.Asn1081Ser)	single nucleotide variant	ARID1A-related disorder [RCV003961321]\|not provided [RCV002967572]	Chr1:26771162 [GRCh38] Chr1:27097653 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.1397del (p.Gly466fs)	deletion	not provided [RCV003151611]	Chr1:26731196 [GRCh38] Chr1:27057687 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.699C>G (p.Ser233=)	single nucleotide variant	not provided [RCV002846823]	Chr1:26697102 [GRCh38] Chr1:27023593 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3964A>G (p.Ser1322Gly)	single nucleotide variant	not provided [RCV002952371]	Chr1:26773677 [GRCh38] Chr1:27100168 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.780C>A (p.Ser260=)	single nucleotide variant	not provided [RCV003020941]	Chr1:26697183 [GRCh38] Chr1:27023674 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2465A>G (p.Asn822Ser)	single nucleotide variant	not provided [RCV002638344]	Chr1:26763018 [GRCh38] Chr1:27089509 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.1921-4C>T	single nucleotide variant	not provided [RCV002575609]	Chr1:26760852 [GRCh38] Chr1:27087343 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1921-13A>T	single nucleotide variant	not provided [RCV002643155]	Chr1:26760843 [GRCh38] Chr1:27087334 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.791C>T (p.Ser264Leu)	single nucleotide variant	not provided [RCV003040547]	Chr1:26697194 [GRCh38] Chr1:27023685 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6735C>T (p.Asp2245=)	single nucleotide variant	not provided [RCV003023906]	Chr1:26780633 [GRCh38] Chr1:27107124 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1011G>T (p.Trp337Cys)	single nucleotide variant	not provided [RCV002599097]\|not specified [RCV004526966]	Chr1:26697414 [GRCh38] Chr1:27023905 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3406+18G>A	single nucleotide variant	not provided [RCV002600658]	Chr1:26771344 [GRCh38] Chr1:27097835 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4500G>A (p.Gly1500=)	single nucleotide variant	not provided [RCV002630816]	Chr1:26774727 [GRCh38] Chr1:27101218 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4517A>G (p.Tyr1506Cys)	single nucleotide variant	not provided [RCV002648140]	Chr1:26774744 [GRCh38] Chr1:27101235 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5495G>A (p.Gly1832Glu)	single nucleotide variant	not provided [RCV003028563]	Chr1:26779393 [GRCh38] Chr1:27105884 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6600G>T (p.Glu2200Asp)	single nucleotide variant	not provided [RCV003010150]	Chr1:26780498 [GRCh38] Chr1:27106989 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.95G>A (p.Arg32Gln)	single nucleotide variant	not provided [RCV002714912]	Chr1:26696498 [GRCh38] Chr1:27022989 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4030T>C (p.Ser1344Pro)	single nucleotide variant	not provided [RCV003011139]	Chr1:26773827 [GRCh38] Chr1:27100318 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3164A>T (p.Tyr1055Phe)	single nucleotide variant	not provided [RCV003047890]	Chr1:26767965 [GRCh38] Chr1:27094456 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5247G>A (p.Arg1749=)	single nucleotide variant	not provided [RCV002966779]	Chr1:26779145 [GRCh38] Chr1:27105636 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5432A>G (p.Lys1811Arg)	single nucleotide variant	Inborn genetic diseases [RCV003044040]\|not provided [RCV003051577]	Chr1:26779330 [GRCh38] Chr1:27105821 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.289G>C (p.Glu97Gln)	single nucleotide variant	Inborn genetic diseases [RCV002855384]	Chr1:26696692 [GRCh38] Chr1:27023183 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.481G>A (p.Val161Ile)	single nucleotide variant	not provided [RCV002645860]	Chr1:26696884 [GRCh38] Chr1:27023375 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.4678C>G (p.Pro1560Ala)	single nucleotide variant	Inborn genetic diseases [RCV003063350]\|not provided [RCV003063349]	Chr1:26774905 [GRCh38] Chr1:27101396 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3421A>G (p.Met1141Val)	single nucleotide variant	not provided [RCV002601587]	Chr1:26772514 [GRCh38] Chr1:27099005 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.720C>G (p.Gly240=)	single nucleotide variant	not provided [RCV002597944]	Chr1:26697123 [GRCh38] Chr1:27023614 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2879-11C>A	single nucleotide variant	not provided [RCV002653447]	Chr1:26766446 [GRCh38] Chr1:27092937 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4004+20G>A	single nucleotide variant	not provided [RCV002582636]	Chr1:26773737 [GRCh38] Chr1:27100228 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2067G>A (p.Leu689=)	single nucleotide variant	not provided [RCV002635653]	Chr1:26761002 [GRCh38] Chr1:27087493 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.5011C>T (p.Arg1671Trp)	single nucleotide variant	not provided [RCV002725800]	Chr1:26775594 [GRCh38] Chr1:27102085 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.6458G>A (p.Arg2153His)	single nucleotide variant	not provided [RCV002583373]	Chr1:26780356 [GRCh38] Chr1:27106847 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6832G>A (p.Val2278Ile)	single nucleotide variant	not provided [RCV002943350]	Chr1:26780730 [GRCh38] Chr1:27107221 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.219G>A (p.Leu73=)	single nucleotide variant	not provided [RCV002635638]	Chr1:26696622 [GRCh38] Chr1:27023113 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1092C>T (p.Pro364=)	single nucleotide variant	not provided [RCV003093006]	Chr1:26697495 [GRCh38] Chr1:27023986 [GRCh37] Chr1:1p36.11	benign
NM_006015.6(ARID1A):c.148A>G (p.Met50Val)	single nucleotide variant	ARID1A-related disorder [RCV003946320]\|not provided [RCV002607369]	Chr1:26696551 [GRCh38] Chr1:27023042 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.3866+14C>T	single nucleotide variant	not provided [RCV002605615]	Chr1:26773510 [GRCh38] Chr1:27100001 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6204G>A (p.Ser2068=)	single nucleotide variant	not provided [RCV003052418]	Chr1:26780102 [GRCh38] Chr1:27106593 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3886C>T (p.Pro1296Ser)	single nucleotide variant	not provided [RCV002942527]	Chr1:26773599 [GRCh38] Chr1:27100090 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.249CGG[5] (p.Gly87_Ala88insGly)	microsatellite	not provided [RCV002585095]\|not specified [RCV003111627]	Chr1:26696649..26696650 [GRCh38] Chr1:27023140..27023141 [GRCh37] Chr1:1p36.11	likely benign\|uncertain significance
NM_006015.6(ARID1A):c.4062C>T (p.Phe1354=)	single nucleotide variant	ARID1A-related disorder [RCV003973431]\|not provided [RCV002586932]	Chr1:26773859 [GRCh38] Chr1:27100350 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3945C>T (p.Asp1315=)	single nucleotide variant	not provided [RCV003092276]	Chr1:26773658 [GRCh38] Chr1:27100149 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.778T>G (p.Ser260Ala)	single nucleotide variant	not provided [RCV002586350]	Chr1:26697181 [GRCh38] Chr1:27023672 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1995G>A (p.Gly665=)	single nucleotide variant	not provided [RCV002582830]	Chr1:26760930 [GRCh38] Chr1:27087421 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6588G>A (p.Leu2196=)	single nucleotide variant	not provided [RCV002607082]	Chr1:26780486 [GRCh38] Chr1:27106977 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2328T>C (p.Pro776=)	single nucleotide variant	ARID1A-related disorder [RCV003943756]\|not provided [RCV003072229]	Chr1:26762228 [GRCh38] Chr1:27088719 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.906C>G (p.Pro302=)	single nucleotide variant	not provided [RCV002590254]	Chr1:26697309 [GRCh38] Chr1:27023800 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4768C>T (p.Pro1590Ser)	single nucleotide variant	not provided [RCV002582333]	Chr1:26774995 [GRCh38] Chr1:27101486 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.1593G>A (p.Pro531=)	single nucleotide variant	not provided [RCV002586518]	Chr1:26731394 [GRCh38] Chr1:27057885 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2067G>T (p.Leu689=)	single nucleotide variant	not provided [RCV002586537]	Chr1:26761002 [GRCh38] Chr1:27087493 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2733-14A>G	single nucleotide variant	not provided [RCV002612847]	Chr1:26766207 [GRCh38] Chr1:27092698 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.834_835delinsTT (p.Pro279Ser)	indel	not provided [RCV002613166]	Chr1:26697237..26697238 [GRCh38] Chr1:27023728..27023729 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3855T>C (p.Tyr1285=)	single nucleotide variant	not provided [RCV003071659]	Chr1:26773485 [GRCh38] Chr1:27099976 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4333C>T (p.Arg1445Cys)	single nucleotide variant	not provided [RCV002588710]	Chr1:26774560 [GRCh38] Chr1:27101051 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1029_1043dup (p.Ala349_Ser350insAlaAlaAlaAlaAla)	duplication	not provided [RCV002607878]	Chr1:26697417..26697418 [GRCh38] Chr1:27023908..27023909 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.1764G>A (p.Gln588=)	single nucleotide variant	not provided [RCV003072601]	Chr1:26731565 [GRCh38] Chr1:27058056 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3081T>C (p.Tyr1027=)	single nucleotide variant	not provided [RCV002587935]	Chr1:26767882 [GRCh38] Chr1:27094373 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.2836C>A (p.Pro946Thr)	single nucleotide variant	not provided [RCV002590115]	Chr1:26766324 [GRCh38] Chr1:27092815 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.261A>C (p.Gly87=)	single nucleotide variant	not provided [RCV002588210]	Chr1:26696664 [GRCh38] Chr1:27023155 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.6548G>A (p.Arg2183His)	single nucleotide variant	Inborn genetic diseases [RCV003274352]\|not provided [RCV003154377]	Chr1:26780446 [GRCh38] Chr1:27106937 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2345A>G (p.His782Arg)	single nucleotide variant	Inborn genetic diseases [RCV003358158]\|not provided [RCV003229467]	Chr1:26762245 [GRCh38] Chr1:27088736 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6075G>C (p.Lys2025Asn)	single nucleotide variant	Inborn genetic diseases [RCV003220409]	Chr1:26779973 [GRCh38] Chr1:27106464 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3287A>G (p.Tyr1096Cys)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV003224947]	Chr1:26771207 [GRCh38] Chr1:27097698 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.5633C>G (p.Pro1878Arg)	single nucleotide variant	Inborn genetic diseases [RCV003205108]	Chr1:26779531 [GRCh38] Chr1:27106022 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.1362T>C (p.Tyr454=)	single nucleotide variant	not provided [RCV003222606]	Chr1:26731163 [GRCh38] Chr1:27057654 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.3185G>T (p.Gly1062Val)	single nucleotide variant	not provided [RCV003159380]	Chr1:26767986 [GRCh38] Chr1:27094477 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.915C>T (p.Ala305=)	single nucleotide variant	not provided [RCV003222605]	Chr1:26697318 [GRCh38] Chr1:27023809 [GRCh37] Chr1:1p36.11	benign\|likely benign
NM_006015.6(ARID1A):c.3299T>A (p.Leu1100His)	single nucleotide variant	not provided [RCV003221685]	Chr1:26771219 [GRCh38] Chr1:27097710 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5786G>A (p.Ser1929Asn)	single nucleotide variant	Inborn genetic diseases [RCV003199383]	Chr1:26779684 [GRCh38] Chr1:27106175 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3978GCA[4] (p.Gln1331_Gln1334del)	microsatellite	Intellectual disability, autosomal dominant 14 [RCV003141495]	Chr1:26773691..26773702 [GRCh38] Chr1:27100182..27100193 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2988+3A>T	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV003141496]	Chr1:26766569 [GRCh38] Chr1:27093060 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.334G>A (p.Ala112Thr)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV003141497]	Chr1:26696737 [GRCh38] Chr1:27023228 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.5939G>A (p.Arg1980His)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV003141498]	Chr1:26779837 [GRCh38] Chr1:27106328 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.626A>T (p.Asn209Ile)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV003141499]	Chr1:26697029 [GRCh38] Chr1:27023520 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.203C>T (p.Pro68Leu)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV003141500]	Chr1:26696606 [GRCh38] Chr1:27023097 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4412A>G (p.Asn1471Ser)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV003141501]	Chr1:26774639 [GRCh38] Chr1:27101130 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.667C>A (p.Pro223Thr)	single nucleotide variant	Inborn genetic diseases [RCV003300605]	Chr1:26697070 [GRCh38] Chr1:27023561 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3302A>G (p.Tyr1101Cys)	single nucleotide variant	not provided [RCV003227207]	Chr1:26771222 [GRCh38] Chr1:27097713 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2948A>G (p.Asn983Ser)	single nucleotide variant	Inborn genetic diseases [RCV003174393]	Chr1:26766526 [GRCh38] Chr1:27093017 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4745T>G (p.Ile1582Ser)	single nucleotide variant	Inborn genetic diseases [RCV003199056]	Chr1:26774972 [GRCh38] Chr1:27101463 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.4992T>G (p.Ile1664Met)	single nucleotide variant	not provided [RCV003323118]	Chr1:26775219 [GRCh38] Chr1:27101710 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.284del (p.Gly95fs)	deletion	Intellectual disability, autosomal dominant 14 [RCV003322717]	Chr1:26696686 [GRCh38] Chr1:27023177 [GRCh37] Chr1:1p36.11	pathogenic\|likely pathogenic
NM_006015.6(ARID1A):c.275G>A (p.Gly92Asp)	single nucleotide variant	not provided [RCV003319719]	Chr1:26696678 [GRCh38] Chr1:27023169 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.2237T>C (p.Ile746Thr)	single nucleotide variant	not provided [RCV003322997]	Chr1:26761459 [GRCh38] Chr1:27087950 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.3506C>T (p.Pro1169Leu)	single nucleotide variant	not provided [RCV003322129]	Chr1:26772599 [GRCh38] Chr1:27099090 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.299T>C (p.Leu100Pro)	single nucleotide variant	not provided [RCV003318913]	Chr1:26696702 [GRCh38] Chr1:27023193 [GRCh37] Chr1:1p36.11	likely benign
NM_006015.6(ARID1A):c.4009_4011del (p.Asp1337del)	deletion	not provided [RCV003321093]	Chr1:26773804..26773806 [GRCh38] Chr1:27100295..27100297 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6166C>T (p.Leu2056Phe)	single nucleotide variant	not provided [RCV003328980]	Chr1:26780064 [GRCh38] Chr1:27106555 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.815G>A (p.Gly272Glu)	single nucleotide variant	not provided [RCV003329617]	Chr1:26697218 [GRCh38] Chr1:27023709 [GRCh37] Chr1:1p36.11	uncertain significance
NM_006015.6(ARID1A):c.6200T>C (p.Ile2067Thr)	single nucleotide variant	Intellectual disability, autosomal dominant 14 [RCV003333560]	Chr1:26780098 [GRCh38] Chr1:27106589 [GRCh37] Chr1:1p36.11	likely pathogenic
NM_006015.6(ARID1A):c.3988C>T (p.Gln1330Ter)	single nucleotide variant	Malignant tumor of urinary bladder [RCV003332942]	Chr1:26773701 [GRCh38] Chr1:27100192 [GRCh37] Chr1:1p36.11	pathogenic
NM_006015.6(ARID1A):c.4372C>T (p.Gln1458Ter)	single nucleotide variant	Malignant tumor of urinary bladder [RCV003332943]	Chr1:26774599 [GRCh38] Chr1:27101090 [GRCh37] Chr1:1p36.11	pa

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