ARID1A[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1499631.	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 GRCh37: Chr1:24707696-41886350 GRCh38: Chr1:24381206-41401517	PAFAH2, PAQR7, PDIK1L, PEF1, PEF1-AS1, PHACTR4, PHC2, PHC2-AS1, PIGV, POU3F1, PPIE, PPP1R8, PPT1, PSMB2, PTAFR, PTP4A2, PTPRU, PUM1, RAB42, RBBP4, RCAN3, RCAN3AS, RCC1, RHBDL2, RHCE, RHD, RIMS3, RLF, RNF19B, RNU11, RPA2, RPS6KA1, RRAGC, RSPO1, RSRP1, RUNX3, RUNX3-AS1, S100PBP, SCARNA1, SCMH1, SDC3, SELENON, SERINC2, SESN2, SF3A3, SFN, SFPQ, SH3BGRL3, SH3D21, SLC30A2, SLC9A1, SLFNL1, SLFNL1-AS1, SMAP2, SMIM12, SMPDL3B, SNHG12, SNHG3, SNIP1, SNORA16A, SNORA44, SNORA55, SNORA61, SNORA63C, SNORA73A, SNORA73B, SNORD103A, SNORD103B, SNORD103C, SNORD99, SNRNP40, SPOCD1, SRRM1, SRSF4, STK40, STMN1, STPG1, STX12, SYF2, SYNC, SYTL1, TAF12, TAF12-DT, TEKT2, TENT5B, TFAP2E, TFAP2E-AS1, THEMIS2, THRAP3, TINAGL1, TMCO2, TMEM200B, TMEM222, TMEM234, TMEM35B, TMEM39B, TMEM50A, TMEM54, TRAPPC3, TRIM62, TRIM63, TRIT1, TRNAU1AP, TRNP1, TSSK3, TXLNA, UBXN11, UTP11, WASF2, WDTC1, WDTC1-DT, XKR8, YARS1, YRDC, YTHDF2, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H12A, ZC3H12A-DT, ZCCHC17, ZDHHC18, ZFP69, ZFP69B, ZMPSTE24, ZMYM1, ZMYM4, ZMYM4-AS1, ZMYM6, ZNF362, ZNF593, ZNF593OS, ZNF683, ZNF684, ZPLD2P, ZSCAN20, A3GALT2, ADGRB2, ADPRS, AGO1, AGO3, AGO4, AHDC1, AIRIM, AK2, AKIRIN1, ARID1A, ATP5IF1, AUNIP, AZIN2, BMP8A, BMP8B, BSDC1, C1orf122, C1orf216, C1orf232, C1orf94, CAP1, CATSPER4, CCDC28B, CD164L2, CD52, CDCA8, CEP85, CITED4, CLIC4, CLSPN, CNKSR1, COL16A1, COL8A2, COL9A2, CRYBG2, CSF3R, CSMD2, CSMD2-AS1, CTPS1, DCDC2B, DHDDS, DHDDS-AS1, DLGAP3, DNAJC8, DNALI1, EIF3I, EPB41, EPHA10, EVA1B, EXO5, EXO5-DT, EXTL1, EYA3, FABP3, FAM110D, FAM167B, FAM229A, FAM76A, FCN3, FGR, FHL3, FNDC5, FOXO6, FOXO6-AS1, GJA4, GJA9, GJA9-MYCBP, GJB3, GJB4, GJB5, GMEB1, GNL2, GPATCH3, GPN2, GPR199P, GPR3, GRIK3, HCRTR1, HDAC1, HEYL, HMGB4, HMGN2, HPCA, HPCAL4, IFI6, INPP5B, IQCC, KCNQ4, KDF1, KHDRBS1, KIAA0319L, KIAA0754, KIAA1522, KPNA6, LAPTM5, LCK, LDLRAP1, LIN28A, LINC01226, LINC01343, LINC01648, LINC01685, LINC01756, LINC01778, LINC02574, LOC101928728, LOC101929536, LOC105378663, LOC107988049, LOC108254669, LOC109851610, LOC110120621, LOC110120729, LOC110120958, LOC110120969, LOC110121002, LOC110121088, LOC110121139, LOC110121256, LOC110121289, LOC110594336, LOC111464991, LOC111501765, LOC111828505, LOC112577564, LOC112577570, LOC112577571, LOC112577572, LOC112577573, LOC112577574, LOC112577575, LOC112577576, LOC112577577, LOC112577582, LOC112577583, LOC112577584, LOC112577585, LOC112577586, LOC112577587, LOC112577588, LOC112577589, LOC112577590, LOC112577591, LOC112577594, LOC112577595, LOC112577596, LOC112577597, LOC112577598, LOC112577599, LOC112590790, LOC113939988, LOC114803468, LOC115801417, LOC115801418, LOC115801419, LOC115801420, LOC115801421, LOC115801422, LOC115801423, LOC115801424, LOC115801425, LOC120766157, LOC120893124, LOC120893125, LOC120893126, LOC120893127, LOC120893128, LOC120893129, LOC120893130, LOC120893131, LOC120893132, LOC121725005, LOC121725006, LOC121725007, LOC121725008, LOC121725009, LOC121725010, LOC121725011, LOC121725012, LOC121725013, LOC121725014, LOC121725016, LOC121725017, LOC122056797, LOC122056798, LOC122056799, LOC122056800, LOC122056801, LOC122056802, LOC122056803, LOC122056804, LOC122056805, LOC122056806, LOC122056807, LOC122056808, LOC122056809, LOC122056810, LOC122056811, LOC122056812, LOC122056813, LOC122056814, LOC122056815, LOC122056816, LOC122056817, LOC122056818, LOC122056819, LOC122056820, LOC122056821, LOC122056822, LOC122056823, LOC122056824, LOC122056825, LOC122056826, LOC122056827, LOC122056828, LOC122056829, LOC122056830, LOC122056831, LOC122056832, LOC122056833, LOC122056834, LOC122056835, LOC122056836, LOC122056837, LOC122056838, LOC122056839, LOC122056840, LOC122056841, LOC122056842, LOC122056843, LOC122056844, LOC122056845, LOC122056846, LOC122056847, LOC126805662, LOC126805663, LOC126805664, LOC126805665, LOC126805666, LOC126805667, LOC126805668, LOC126805669, LOC126805670, LOC126805671, LOC126805672, LOC126805673, LOC126805674, LOC126805675, LOC126805676, LOC126805677, LOC126805678, LOC126805679, LOC126805680, LOC126805681, LOC126805682, LOC126805683, LOC126805684, LOC126805685, LOC126805686, LOC126805687, LOC126805688, LOC126805689, LOC126805690, LOC126805691, LOC126805692, LOC126805693, LOC126805694, LOC126805695, LOC126805696, LOC126805697, LOC126805698, LOC126805699, LOC126805700, LOC126805701, LOC126805702, LOC126805703, LOC126805704, LOC126805705, LOC126805706, LOC126805707, LOC126805708, LOC126805709, LOC126805710, LOC126805711, LOC126805712, LOC126805713, LOC126805714, LOC126805715, LOC126805716, LOC126805717, LOC128031832, LOC646471, LSM10, MACF1, MACO1, MAN1C1, MANEAL, MAP3K6, MAP7D1, MARCKSL1, MATN1, MATN1-AS1, MEAF6, MECR, MED18, MFSD2A, MIR1976, MIR30C1, MIR30E, MIR3605, MIR3659, MIR3659HG, MIR3917, MIR4254, MIR4255, MIR4420, MIR4425, MIR552, MIR5581, MIR5585, MIR6731, MIR6732, MRPS15, MTF1, MTFR1L, MYCBP, MYCL, MYCL-AS1, NCDN, NCMAP, NCMAP-DT, NDUFS5, NFYC, NFYC-AS1, NIPAL3, NKAIN1, NR0B2, NT5C1A, NUDC, OPRD1, OSCP1, OXCT2, PABPC4, PABPC4-AS1		See cases	Pathogenic (Jun 1, 2012)	no assertion criteria provided
Select item 12117122.	Single allele GRCh37: Chr1:27022320 GRCh38: Chr1:26695829	ARID1A		not provided	Likely benign (Apr 4, 2019)	criteria provided, single submitter
Select item 12193223.	Single allele GRCh37: Chr1:27022385 GRCh38: Chr1:26695894	ARID1A		not provided	Likely benign (Nov 10, 2018)	criteria provided, single submitter
Select item 12262424.	NM_006015.6(ARID1A):c.-27C>T GRCh37: Chr1:27022868 GRCh38: Chr1:26696377	ARID1A		not provided	Benign (Mar 26, 2020)	criteria provided, single submitter
Select item 4343105.	NM_006015.6(ARID1A):c.-7G>T GRCh37: Chr1:27022888 GRCh38: Chr1:26696397	ARID1A		not specified	Uncertain significance (Jun 21, 2016)	criteria provided, single submitter
Select item 20254606.	NM_006015.6(ARID1A):c.2T>G (p.Met1Arg) GRCh37: Chr1:27022896 GRCh38: Chr1:26696405	ARID1A	M1R	not provided	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 11998357.	NM_006015.6(ARID1A):c.2T>C (p.Met1Thr) GRCh37: Chr1:27022896 GRCh38: Chr1:26696405	ARID1A	M1T	not provided	Uncertain significance (Aug 7, 2020)	criteria provided, single submitter
Select item 17088768.	NM_006015.6(ARID1A):c.4G>A (p.Ala2Thr) GRCh37: Chr1:27022898 GRCh38: Chr1:26696407	ARID1A	A2T	not provided	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 302929.	NM_006015.6(ARID1A):c.31_56del (p.Ser11fs) GRCh37: Chr1:27022913-27022938 GRCh38: Chr1:26696422-26696447	ARID1A	S11fs	not provided, Intellectual disability, autosomal dominant 14	Pathogenic (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131290810.	NM_006015.6(ARID1A):c.22G>A (p.Ala8Thr) GRCh37: Chr1:27022916 GRCh38: Chr1:26696425	ARID1A	A8T	not provided	Uncertain significance (Jul 6, 2020)	criteria provided, single submitter
Select item 72590711.	NM_006015.6(ARID1A):c.24C>G (p.Ala8=) GRCh37: Chr1:27022918 GRCh38: Chr1:26696427	ARID1A		not provided	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 59146912.	NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup) GRCh37: Chr1:27022939-27022940 GRCh38: Chr1:26696448-26696449	ARID1A		Inborn genetic diseases, not provided	Benign/Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43432913.	NM_006015.6(ARID1A):c.48GCC[6] (p.Pro21dup) GRCh37: Chr1:27022939-27022940 GRCh38: Chr1:26696448-26696449	ARID1A		Inborn genetic diseases, not provided, Astrocytoma, not specified	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 170051014.	NM_006015.6(ARID1A):c.48GCC[3] (p.Pro20_Pro21del) GRCh37: Chr1:27022940-27022945 GRCh38: Chr1:26696449-26696454	ARID1A		not provided	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 77084315.	NM_006015.6(ARID1A):c.48GCC[4] (p.Pro21del) GRCh37: Chr1:27022940-27022942 GRCh38: Chr1:26696449-26696451	ARID1A	P21del	not provided	Likely benign (Oct 19, 2020)	criteria provided, multiple submitters, no conflicts
Select item 87113116.	NM_006015.6(ARID1A):c.55C>G (p.Pro19Ala) GRCh37: Chr1:27022949 GRCh38: Chr1:26696458	ARID1A	P19A	not provided	Uncertain significance (Sep 1, 2019)	criteria provided, single submitter
Select item 132064417.	NM_006015.6(ARID1A):c.66G>C (p.Ser22=) GRCh37: Chr1:27022960 GRCh38: Chr1:26696469	ARID1A		not provided	Likely benign (May 4, 2021)	criteria provided, single submitter
Select item 59148818.	NM_006015.6(ARID1A):c.67G>T (p.Glu23Ter) GRCh37: Chr1:27022961 GRCh38: Chr1:26696470	ARID1A	E23*	not provided	Uncertain significance (Sep 16, 2018)	no assertion criteria provided
Select item 154813319.	NM_006015.6(ARID1A):c.72G>C (p.Leu24=) GRCh37: Chr1:27022966 GRCh38: Chr1:26696475	ARID1A		not provided	Likely benign (Aug 10, 2021)	criteria provided, single submitter
Select item 192494920.	NM_006015.6(ARID1A):c.75G>A (p.Lys25_Lys26=) GRCh37: Chr1:27022969 GRCh38: Chr1:26696478	ARID1A		not provided	Benign (Oct 22, 2022)	criteria provided, single submitter
Select item 225099421.	NM_006015.6(ARID1A):c.91C>G (p.Gln31Glu) GRCh37: Chr1:27022985 GRCh38: Chr1:26696494	ARID1A	Q31E	Inborn genetic diseases	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 167911722.	NM_006015.6(ARID1A):c.98_107del (p.Glu33fs) GRCh37: Chr1:27022987-27022996 GRCh38: Chr1:26696496-26696505	ARID1A	E33fs	Intellectual disability, autosomal dominant 14	Conflicting interpretations of pathogenicity (Apr 28, 2022)	criteria provided, conflicting interpretations
Select item 195394923.	NM_006015.6(ARID1A):c.95G>A (p.Arg32Gln) GRCh37: Chr1:27022989 GRCh38: Chr1:26696498	ARID1A	R32Q	not provided	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 133799924.	NM_006015.6(ARID1A):c.110G>A (p.Gly37Asp) GRCh37: Chr1:27023004 GRCh38: Chr1:26696513	ARID1A	G37D	not specified	Uncertain significance (Jul 6, 2021)	criteria provided, single submitter
Select item 38774125.	NM_006015.6(ARID1A):c.111C>T (p.Gly37=) GRCh37: Chr1:27023005 GRCh38: Chr1:26696514	ARID1A		not provided, not specified	Benign/Likely benign (May 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134603826.	NM_006015.6(ARID1A):c.114GGC[7] (p.Ala44_Ala45dup) GRCh37: Chr1:27023007-27023008 GRCh38: Chr1:26696516-26696517	ARID1A		not provided	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 12630927.	NM_006015.6(ARID1A):c.114GGC[6] (p.Ala45dup) GRCh37: Chr1:27023007-27023008 GRCh38: Chr1:26696516-26696517	ARID1A		not specified, not provided, Intellectual disability, autosomal dominant 14	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59138328.	NM_006015.6(ARID1A):c.114GGC[4] (p.Ala45del) GRCh37: Chr1:27023008-27023010 GRCh38: Chr1:26696517-26696519	ARID1A	A45del	not provided, Hepatocellular carcinoma	Conflicting interpretations of pathogenicity (Jun 15, 2021)	no assertion criteria provided
Select item 192281829.	NM_006015.6(ARID1A):c.116C>T (p.Ala39Val) GRCh37: Chr1:27023010 GRCh38: Chr1:26696519	ARID1A	A39V	not provided	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 109862330.	NM_006015.6(ARID1A):c.122C>T (p.Ala41Val) GRCh37: Chr1:27023016 GRCh38: Chr1:26696525	ARID1A	A41V	Intellectual disability, autosomal dominant 14	Uncertain significance (May 7, 2020)	criteria provided, single submitter
Select item 172103431.	NM_006015.6(ARID1A):c.130G>C (p.Ala44Pro) GRCh37: Chr1:27023024 GRCh38: Chr1:26696533	ARID1A	A44P	not provided	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 43431132.	NM_006015.6(ARID1A):c.135C>T (p.Ala45=) GRCh37: Chr1:27023029 GRCh38: Chr1:26696538	ARID1A		not specified, Intellectual disability, autosomal dominant 14, not provided	Benign/Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218945033.	NM_006015.6(ARID1A):c.148A>G (p.Met50Val) GRCh37: Chr1:27023042 GRCh38: Chr1:26696551	ARID1A	M50V	not provided	Benign (May 25, 2022)	criteria provided, single submitter
Select item 170109834.	NM_006015.6(ARID1A):c.148_149delinsTA (p.Met50Ter) GRCh37: Chr1:27023042-27023043 GRCh38: Chr1:26696551-26696552	ARID1A	M50*	not provided	Pathogenic (Jul 1, 2021)	criteria provided, single submitter
Select item 125082435.	NM_006015.6(ARID1A):c.162C>T (p.Ala54=) GRCh37: Chr1:27023056 GRCh38: Chr1:26696565	ARID1A		not provided, Intellectual disability, autosomal dominant 14	Benign (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97686036.	NM_006015.6(ARID1A):c.163G>A (p.Gly55Arg) GRCh37: Chr1:27023057 GRCh38: Chr1:26696566	ARID1A	G55R	Intellectual disability, autosomal dominant 14	Uncertain significance (Jun 19, 2020)	no assertion criteria provided
Select item 117732937.	NM_006015.6(ARID1A):c.166C>T (p.Gln56Ter) GRCh37: Chr1:27023060 GRCh38: Chr1:26696569	ARID1A	Q56*	ARID1A-related BAFopathy	Pathogenic (Jun 10, 2021)	criteria provided, single submitter
Select item 241402538.	NM_006015.6(ARID1A):c.167A>T (p.Gln56Leu) GRCh37: Chr1:27023061 GRCh38: Chr1:26696570	ARID1A	Q56L	not provided	Benign (Sep 6, 2022)	criteria provided, single submitter
Select item 106549139.	NM_006015.6(ARID1A):c.175G>T (p.Glu59Ter) GRCh37: Chr1:27023069 GRCh38: Chr1:26696578	ARID1A	E59*	Non-immune hydrops fetalis	Pathogenic (Aug 13, 2020)	criteria provided, single submitter
Select item 170794640.	NM_006015.6(ARID1A):c.185C>T (p.Ala62Val) GRCh37: Chr1:27023079 GRCh38: Chr1:26696588	ARID1A	A62V	not provided	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 199902641.	NM_006015.6(ARID1A):c.193C>T (p.Pro65Ser) GRCh37: Chr1:27023087 GRCh38: Chr1:26696596	ARID1A	P65S	not provided	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 44577942.	NM_006015.6(ARID1A):c.193C>G (p.Pro65Ala) GRCh37: Chr1:27023087 GRCh38: Chr1:26696596	ARID1A	P65A	not provided	Uncertain significance (Sep 15, 2017)	criteria provided, single submitter
Select item 103159543.	NM_006015.6(ARID1A):c.197C>G (p.Pro66Arg) GRCh37: Chr1:27023091 GRCh38: Chr1:26696600	ARID1A	P66R	Intellectual disability, autosomal dominant 14	Uncertain significance (Apr 19, 2018)	criteria provided, single submitter
Select item 227487344.	NM_006015.6(ARID1A):c.202C>T (p.Pro68Ser) GRCh37: Chr1:27023096 GRCh38: Chr1:26696605	ARID1A	P68S	Inborn genetic diseases	Uncertain significance (Jan 31, 2022)	criteria provided, single submitter
Select item 243916545.	NM_006015.6(ARID1A):c.203C>T (p.Pro68Leu) GRCh37: Chr1:27023097 GRCh38: Chr1:26696606	ARID1A	P68L	Intellectual disability, autosomal dominant 14	Uncertain significance (Jun 16, 2021)	criteria provided, single submitter
Select item 190109846.	NM_006015.6(ARID1A):c.207G>A (p.Leu69_Gly70=) GRCh37: Chr1:27023101 GRCh38: Chr1:26696610	ARID1A		not provided	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 148786347.	NM_006015.6(ARID1A):c.209G>T (p.Gly70Val) GRCh37: Chr1:27023103 GRCh38: Chr1:26696612	ARID1A	G70V	not provided	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 192674248.	NM_006015.6(ARID1A):c.213G>A (p.Lys71_Glu72=) GRCh37: Chr1:27023107 GRCh38: Chr1:26696616	ARID1A		not provided	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 193292249.	NM_006015.6(ARID1A):c.219G>A (p.Leu73_Gln74=) GRCh37: Chr1:27023113 GRCh38: Chr1:26696622	ARID1A		not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 43434850.	NM_006015.6(ARID1A):c.239A>G (p.Asn80Ser) GRCh37: Chr1:27023133 GRCh38: Chr1:26696642	ARID1A	N80S	not specified, not provided	Conflicting interpretations of pathogenicity (Mar 15, 2022)	criteria provided, conflicting interpretations
Select item 169662851.	NM_006015.6(ARID1A):c.242G>A (p.Gly81Glu) GRCh37: Chr1:27023136 GRCh38: Chr1:26696645	ARID1A	G81E	Intellectual disability, autosomal dominant 14	Uncertain significance (Sep 3, 2021)	criteria provided, single submitter
Select item 217425252.	NM_006015.6(ARID1A):c.249CGG[5] (p.Gly87_Ala88insGly) GRCh37: Chr1:27023140-27023141 GRCh38: Chr1:26696649-26696650	ARID1A		not provided, not specified	Conflicting interpretations of pathogenicity (Jan 5, 2023)	criteria provided, conflicting interpretations
Select item 43433053.	NM_006015.6(ARID1A):c.249CGG[6] (p.Gly86_Gly87dup) GRCh37: Chr1:27023140-27023141 GRCh38: Chr1:26696649-26696650	ARID1A		not specified, not provided	Uncertain significance (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43431254.	NM_006015.6(ARID1A):c.250_267dup (p.Gly84_Gly89dup) GRCh37: Chr1:27023140-27023141 GRCh38: Chr1:26696649-26696650	ARID1A		not specified, not provided	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 125454955.	NM_006015.6(ARID1A):c.250_267del (p.Gly84_Gly89del) GRCh37: Chr1:27023141-27023158 GRCh38: Chr1:26696650-26696667	ARID1A		not provided	Likely benign (Feb 26, 2021)	criteria provided, single submitter
Select item 59201856.	NM_006015.6(ARID1A):c.261_278dup (p.Ala88_Gly93dup) GRCh37: Chr1:27023144-27023145 GRCh38: Chr1:26696653-26696654	ARID1A		not provided	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 120502357.	NM_006015.6(ARID1A):c.261_278del (p.Ala88_Gly93del) GRCh37: Chr1:27023145-27023162 GRCh38: Chr1:26696654-26696671	ARID1A		not provided	Conflicting interpretations of pathogenicity (Nov 17, 2022)	criteria provided, conflicting interpretations
Select item 133496458.	NM_006015.6(ARID1A):c.261_275dup (p.Ala88_Gly92dup) GRCh37: Chr1:27023147-27023148 GRCh38: Chr1:26696656-26696657	ARID1A		not provided	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 97636559.	NM_006015.6(ARID1A):c.261_275del (p.Ala88_Gly92del) GRCh37: Chr1:27023148-27023162 GRCh38: Chr1:26696657-26696671	ARID1A		Intellectual disability, autosomal dominant 14	Uncertain significance (Jul 5, 2018)	criteria provided, single submitter
Select item 217486460.	NM_006015.6(ARID1A):c.261A>C (p.Gly87_Ala88=) GRCh37: Chr1:27023155 GRCh38: Chr1:26696664	ARID1A		not provided	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 121614161.	NM_006015.6(ARID1A):c.263_277del (p.Ala88_Gly92del) GRCh37: Chr1:27023156-27023170 GRCh38: Chr1:26696665-26696679	ARID1A		not provided	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43431362.	NM_006015.6(ARID1A):c.264C>T (p.Ala88=) GRCh37: Chr1:27023158 GRCh38: Chr1:26696667	ARID1A		not specified, not provided	Benign/Likely benign (May 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99276563.	NM_006015.6(ARID1A):c.270CGG[4] (p.Gly93dup) GRCh37: Chr1:27023162-27023163 GRCh38: Chr1:26696671-26696672	ARID1A		Pulmonic stenosis, Intellectual disability	Uncertain significance (Jun 21, 2019)	criteria provided, single submitter
Select item 43431464.	NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly) GRCh37: Chr1:27023162 GRCh38: Chr1:26696671	ARID1A	S90G	not specified, Intellectual disability, autosomal dominant 14, not provided	Benign/Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121373165.	NM_006015.6(ARID1A):c.269G>C (p.Ser90Thr) GRCh37: Chr1:27023163 GRCh38: Chr1:26696672	ARID1A	S90T	Intellectual disability, autosomal dominant 14	Uncertain significance (Nov 4, 2020)	criteria provided, single submitter
Select item 136759266.	NM_006015.6(ARID1A):c.281C>A (p.Pro94His) GRCh37: Chr1:27023175 GRCh38: Chr1:26696684	ARID1A	P94H	not provided	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 130608667.	NM_006015.6(ARID1A):c.281C>T (p.Pro94Leu) GRCh37: Chr1:27023175 GRCh38: Chr1:26696684	ARID1A	P94L	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 229675768.	NM_006015.6(ARID1A):c.289G>C (p.Glu97Gln) GRCh37: Chr1:27023183 GRCh38: Chr1:26696692	ARID1A	E97Q	Inborn genetic diseases	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 102899169.	NM_006015.6(ARID1A):c.289G>A (p.Glu97Lys) GRCh37: Chr1:27023183 GRCh38: Chr1:26696692	ARID1A	E97K	Intellectual disability, autosomal dominant 14	Uncertain significance (Aug 14, 2019)	criteria provided, single submitter
Select item 171204670.	NM_006015.6(ARID1A):c.292C>T (p.Pro98Ser) GRCh37: Chr1:27023186 GRCh38: Chr1:26696695	ARID1A	P98S	not provided	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 189770471.	NM_006015.6(ARID1A):c.317A>G (p.Asn106Ser) GRCh37: Chr1:27023211 GRCh38: Chr1:26696720	ARID1A	N106S	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (May 20, 2022)	criteria provided, conflicting interpretations
Select item 43431572.	NM_006015.6(ARID1A):c.318C>T (p.Asn106=) GRCh37: Chr1:27023212 GRCh38: Chr1:26696721	ARID1A		not specified, not provided, Intellectual disability, autosomal dominant 14	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193009673.	NM_006015.6(ARID1A):c.321G>A (p.Ala107_Gly108=) GRCh37: Chr1:27023215 GRCh38: Chr1:26696724	ARID1A		not provided	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 170637074.	NM_006015.6(ARID1A):c.323G>A (p.Gly108Asp) GRCh37: Chr1:27023217 GRCh38: Chr1:26696726	ARID1A	G108D	not provided	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 216316175.	NM_006015.6(ARID1A):c.325C>T (p.Pro109Ser) GRCh37: Chr1:27023219 GRCh38: Chr1:26696728	ARID1A	P109S	not provided	Benign (Nov 2, 2022)	criteria provided, single submitter
Select item 102899376.	NM_006015.6(ARID1A):c.326C>G (p.Pro109Arg) GRCh37: Chr1:27023220 GRCh38: Chr1:26696729	ARID1A	P109R	Intellectual disability, autosomal dominant 14	Uncertain significance (Jun 6, 2019)	criteria provided, single submitter
Select item 43433177.	NM_006015.6(ARID1A):c.326C>T (p.Pro109Leu) GRCh37: Chr1:27023220 GRCh38: Chr1:26696729	ARID1A	P109L	not specified, not provided	Conflicting interpretations of pathogenicity (Aug 10, 2022)	criteria provided, conflicting interpretations
Select item 150241978.	NM_006015.6(ARID1A):c.328A>G (p.Arg110Gly) GRCh37: Chr1:27023222 GRCh38: Chr1:26696731	ARID1A	R110G	not provided	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 166842279.	NM_006015.6(ARID1A):c.331C>G (p.Pro111Ala) GRCh37: Chr1:27023225 GRCh38: Chr1:26696734	ARID1A	P111A	not provided	Benign (Oct 14, 2021)	criteria provided, single submitter
Select item 243916280.	NM_006015.6(ARID1A):c.334G>A (p.Ala112Thr) GRCh37: Chr1:27023228 GRCh38: Chr1:26696737	ARID1A	A112T	Intellectual disability, autosomal dominant 14	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 101251781.	NM_006015.6(ARID1A):c.357G>A (p.Glu119=) GRCh37: Chr1:27023251 GRCh38: Chr1:26696760	ARID1A		not provided	Likely benign (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43433282.	NM_006015.6(ARID1A):c.358C>T (p.Pro120Ser) GRCh37: Chr1:27023252 GRCh38: Chr1:26696761	ARID1A	P120S	not provided, not specified	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 143528483.	NM_006015.6(ARID1A):c.359C>T (p.Pro120Leu) GRCh37: Chr1:27023253 GRCh38: Chr1:26696762	ARID1A	P120L	not provided	Uncertain significance (Aug 25, 2021)	criteria provided, single submitter
Select item 134716784.	NM_006015.6(ARID1A):c.361C>T (p.Pro121Ser) GRCh37: Chr1:27023255 GRCh38: Chr1:26696764	ARID1A	P121S	not provided	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 149599285.	NM_006015.6(ARID1A):c.363CGG[5] (p.Gly127dup) GRCh37: Chr1:27023256-27023257 GRCh38: Chr1:26696765-26696766	ARID1A		not provided	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 135068286.	NM_006015.6(ARID1A):c.367_381dup (p.Gly123_Gly127dup) GRCh37: Chr1:27023256-27023257 GRCh38: Chr1:26696765-26696766	ARID1A		not provided	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 191757887.	NM_006015.6(ARID1A):c.366C>T (p.Gly122_Gly123=) GRCh37: Chr1:27023260 GRCh38: Chr1:26696769	ARID1A		not provided	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 131214888.	NM_006015.6(ARID1A):c.375_380dup (p.Gly126_Gly127dup) GRCh37: Chr1:27023263-27023264 GRCh38: Chr1:26696772-26696773	ARID1A		not provided	Uncertain significance (Sep 11, 2019)	criteria provided, single submitter
Select item 121119789.	NM_006015.6(ARID1A):c.372C>T (p.Gly124=) GRCh37: Chr1:27023266 GRCh38: Chr1:26696775	ARID1A		not provided	Benign/Likely benign (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 127225590.	NM_006015.6(ARID1A):c.373G>A (p.Gly125Ser) GRCh37: Chr1:27023267 GRCh38: Chr1:26696776	ARID1A	G125S	not provided, Intellectual disability, autosomal dominant 14	Benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 222004891.	NM_006015.6(ARID1A):c.374G>T (p.Gly125Val) GRCh37: Chr1:27023268 GRCh38: Chr1:26696777	ARID1A	G125V	Inborn genetic diseases	Uncertain significance (Jul 2, 2021)	criteria provided, single submitter
Select item 121159292.	NM_006015.6(ARID1A):c.375T>C (p.Gly125=) GRCh37: Chr1:27023269 GRCh38: Chr1:26696778	ARID1A		not provided	Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119762593.	NM_006015.6(ARID1A):c.376G>A (p.Gly126Ser) GRCh37: Chr1:27023270 GRCh38: Chr1:26696779	ARID1A	G126S	not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170074794.	NM_006015.6(ARID1A):c.380G>A (p.Gly127Asp) GRCh37: Chr1:27023274 GRCh38: Chr1:26696783	ARID1A	G127D	not provided	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 139247095.	NM_006015.6(ARID1A):c.385A>T (p.Ser129Cys) GRCh37: Chr1:27023279 GRCh38: Chr1:26696788	ARID1A	S129C	not provided	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 21025996.	NM_006015.6(ARID1A):c.394del (p.Val132fs) GRCh37: Chr1:27023285 GRCh38: Chr1:26696794	ARID1A	V132fs	Intellectual disability, autosomal dominant 14	Pathogenic (Feb 28, 2014)	criteria provided, single submitter
Select item 124125797.	NM_006015.6(ARID1A):c.393G>C (p.Gly131=) GRCh37: Chr1:27023287 GRCh38: Chr1:26696796	ARID1A		not provided, Intellectual disability, autosomal dominant 14	Benign (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118676998.	NM_006015.6(ARID1A):c.405T>G (p.Pro135=) GRCh37: Chr1:27023299 GRCh38: Chr1:26696808	ARID1A		not provided	Benign/Likely benign (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241376099.	NM_006015.6(ARID1A):c.421G>A (p.Ala141Thr) GRCh37: Chr1:27023315 GRCh38: Chr1:26696824	ARID1A	A141T	not provided	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 1800717100.	NM_006015.6(ARID1A):c.422C>G (p.Ala141Gly) GRCh37: Chr1:27023316 GRCh38: Chr1:26696825	ARID1A	A141G	not provided	Uncertain significance (May 16, 2022)	criteria provided, single submitter

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