Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001374828.1(ARID1B):c.4288C>T (p.Gln1430Ter)	SNV Germline	Chr6:157196221	Pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA129762	rs_387907140	1 SubmittersRCV000024207
NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter)	SNV Germline	Chr6:157181137	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided ARID1B-related BAFopathy Autosomal dominant ARID1B-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA129764	rs_387907141	8 SubmittersRCV000024209 RCV000254764 RCV001533118 RCV006633888
NM_001374828.1(ARID1B):c.4407T>A (p.Tyr1469Ter)	SNV Germline	Chr6:157198835	Pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA10575558	rs_748363079	1 SubmittersRCV000024211
NM_001374828.1(ARID1B):c.2113C>T (p.Gln705Ter)	SNV Germline	Chr6:156901502	Pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA129766	rs_387907142	1 SubmittersRCV000024212
NM_001374828.1(ARID1B):c.5698A>T (p.Lys1900Ter)	SNV Germline	Chr6:157206470	Pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA129768	rs_387907143	1 SubmittersRCV000024214
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter)	SNV Germline	Chr6:157181056	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided Inborn genetic diseases ARID1B-related BAFopathy ARID1B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA129770	rs_387907144	9 SubmittersRCV000024215 RCV000481866 RCV000624305 RCV001533116 RCV004737163
NM_001374828.1(ARID1B):c.6319G>T (p.Glu2107Ter)	SNV Germline	Chr6:157207091	Pathogenic	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA236275	rs_786205584	1 SubmittersRCV000171404 RCV003989483
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)	SNV Germline	Chr6:157148764	Pathogenic	Condition: not provided Autism spectrum disorder Coffin-Siris syndrome 1 ARID1B-related BAFopathy	Criteria Provided Multiple Submitters No Conflicts	CA203785	rs_794727977	7 SubmittersRCV000358610 RCV001291271 RCV001330749 RCV001533110
NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser)	SNV Germline	Chr6:156778126	Conflicting classifications of pathogenicity	not specified Condition: not provided Coffin-Siris syndrome 1 Inborn genetic diseases ARID1B-related disorder	Criteria Provided Conflicting Classifications	CA209558	rs_776745618	8 SubmittersRCV000195009 RCV000513748 RCV001807122 RCV002415818 RCV004530099
NM_001374828.1(ARID1B):c.2205A>T (p.Glu735Asp)	SNV Germline	Chr6:156935534	Conflicting classifications of pathogenicity	not specified Condition: not provided Coffin-Siris syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA205671	rs_139125255	6 SubmittersRCV000192682 RCV001547679 RCV001731510 RCV002415819
NM_001374828.1(ARID1B):c.2359C>T (p.Gln787Ter)	SNV Germline	Chr6:157084773	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA209839	rs_753933273	4 SubmittersRCV000195185 RCV000520794
NM_001374828.1(ARID1B):c.2379T>C (p.His793=)	SNV Germline	Chr6:157084793	Conflicting classifications of pathogenicity	not specified Condition: not provided Coffin-Siris syndrome 1 ARID1B-related disorder	Criteria Provided Conflicting Classifications	CA206553	rs_370364530	5 SubmittersRCV000193218 RCV001668359 RCV001807123 RCV004530100
NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter)	SNV Germline	Chr6:157084872	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA207644	rs_797045272	6 SubmittersRCV000193875 RCV000578614
NM_001374828.1(ARID1B):c.3105C>T (p.Pro1035=)	SNV Germline	Chr6:157167055	Conflicting classifications of pathogenicity	not specified Condition: not provided Coffin-Siris syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA209938	rs_144894118	6 SubmittersRCV000195254 RCV001682906 RCV001807124 RCV002314777
NM_001374828.1(ARID1B):c.3195G>A (p.Pro1065=)	SNV Germline	Chr6:157167145	Conflicting classifications of pathogenicity	not specified Condition: not provided Coffin-Siris syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA206652	rs_537901478	6 SubmittersRCV000193281 RCV001553239 RCV001807125 RCV002314778
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	SNV Germline	Chr6:157198907	Pathogenic/Likely pathogenic	7 conditions Coffin-Siris syndrome 1 Condition: not provided Inborn genetic diseases See cases ARID1B-related BAFopathy ARID1B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA207808	rs_797045277	16 SubmittersRCV000415059 RCV000416951 RCV000657879 RCV001266859 RCV001420197 RCV001533021 RCV004528976
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter)	SNV Germline	Chr6:157200930	Pathogenic/Likely pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA206215	rs_797045278	2 SubmittersRCV000193003 RCV005055695
NM_001374828.1(ARID1B):c.5027C>T (p.Ala1676Val)	SNV Germline	Chr6:157201252	Conflicting classifications of pathogenicity	not specified Coffin-Siris syndrome 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA207943	rs_762698567	4 SubmittersRCV000194045 RCV001807128 RCV002317669 RCV003556243
NM_001374828.1(ARID1B):c.5678C>T (p.Ala1893Val)	SNV Germline	Chr6:157206450	Conflicting classifications of pathogenicity	not specified Condition: not provided Coffin-Siris syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA205348	rs_201137071	7 SubmittersRCV000192497 RCV000998731 RCV001807130 RCV003165428
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)	SNV Germline	Chr6:157206545	Pathogenic	Coffin-Siris syndrome 1 Inborn genetic diseases Condition: not provided ARID1B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA206469	rs_797045282	11 SubmittersRCV000193164 RCV000624857 RCV001269579 RCV004725042
NM_001374828.1(ARID1B):c.6049C>T (p.Pro2017Ser)	SNV Germline	Chr6:157206821	Conflicting classifications of pathogenicity	not specified Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA208181	rs_774509236	4 SubmittersRCV000194179 RCV000765881 RCV005089974
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)	SNV Germline	Chr6:157207109	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided ARID1B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA209106	rs_797045283	7 SubmittersRCV000194737 RCV000523275 RCV004737299
NM_001374828.1(ARID1B):c.6963G>A (p.Ala2321=)	SNV Germline	Chr6:157207735	Conflicting classifications of pathogenicity	not specified Coffin-Siris syndrome 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA207495	rs_754242891	6 SubmittersRCV000193775 RCV001807132 RCV001753594 RCV002314782
NM_001374828.1(ARID1B):c.6469C>T (p.Gln2157Ter)	SNV Germline	Chr6:157207241	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA358558	rs_869312697	1 SubmittersRCV000209939
NM_001374828.1(ARID1B):c.2452C>T (p.Gln818Ter)	SNV Germline	Chr6:157084866	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA358556	rs_869312712	1 SubmittersRCV000209876
NM_001374828.1(ARID1B):c.5707C>T (p.Gln1903Ter)	SNV Germline	Chr6:157206479	Pathogenic	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10602933	rs_750447037	3 SubmittersRCV000276336 RCV001807205
NM_001374828.1(ARID1B):c.4383-1G>A	SNV Germline	Chr6:157198810	Pathogenic	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10606985	rs_886044620	3 SubmittersRCV000261577 RCV001197143
NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser)	SNV Germline	Chr6:157110561	Likely pathogenic	Condition: not provided Coffin-Siris syndrome 1 ARID1B-related BAFopathy	Criteria Provided Multiple Submitters No Conflicts	CA16042661	rs_1057518045	2 SubmittersRCV000413516 RCV001336508 RCV001533090
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter)	SNV Germline	Chr6:156829296	Pathogenic	Corpus callosum, agenesis of Nail dysplasia Hypertrichosis Neonatal hypotonia Global developmental delay Inborn genetic diseases Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16043413	rs_1057518951	3 SubmittersRCV000414997 RCV002524668 RCV003313067 RCV001196338
NM_001374828.1(ARID1B):c.266G>A (p.Gly89Asp)	SNV Germline	Chr6:156777946	Likely pathogenic	Coffin-Siris syndrome 1 ARID1B-related BAFopathy	Criteria Provided Single Submitter	CA16043663	rs_1057518648	1 SubmittersRCV000414923 RCV001533081
NM_001374828.1(ARID1B):c.4058+1G>C	SNV Germline	Chr6:157189781	Pathogenic	Coffin-Siris syndrome 1 ARID1B-related BAFopathy	Criteria Provided Multiple Submitters No Conflicts	CA16043721	rs_1057518691	2 SubmittersRCV000415272 RCV001533123
NM_001374828.1(ARID1B):c.2582-2A>C	SNV Germline	Chr6:157133026	Conflicting classifications of pathogenicity	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Conflicting Classifications	CA16605057	rs_1057524160	3 SubmittersRCV000426914 RCV001331137
NM_001374828.1(ARID1B):c.5672C>T (p.Pro1891Leu)	SNV Germline	Chr6:157206444	Conflicting classifications of pathogenicity	not specified Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4067880	rs_142466273	4 SubmittersRCV000445047 RCV001770292 RCV003237843
NM_001374828.1(ARID1B):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr6:156829419	Pathogenic	Nicolaides-Baraitser syndrome Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16609413	rs_1060499668	2 SubmittersRCV000449505 RCV005603625
NM_001374828.1(ARID1B):c.4825C>T (p.Gln1609Ter)	SNV Germline	Chr6:157201050	Pathogenic/Likely pathogenic	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16618266	rs_1064793482	3 SubmittersRCV000478760 RCV003985791
NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter)	SNV Germline/somatic	Chr6:157206971	Pathogenic/Likely pathogenic	Condition: not provided Coffin-Siris syndrome 1 Medulloblastoma WNT activated	Criteria Provided Multiple Submitters No Conflicts	CA366247749	rs_1028186690	7 SubmittersRCV001548527 RCV000496177 RCV006254075
NM_001374828.1(ARID1B):c.927C>T (p.Ala309=)	SNV Germline	Chr6:156778607	Conflicting classifications of pathogenicity	not specified Condition: not provided Coffin-Siris syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA452989246	rs_1450163641	6 SubmittersRCV000503608 RCV000998729 RCV001807267 RCV002367682
NM_001374828.1(ARID1B):c.1238G>C (p.Gly413Ala)	SNV Germline	Chr6:156778918	Conflicting classifications of pathogenicity	not specified Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Conflicting Classifications	CA4066724	rs_749315126	5 SubmittersRCV000502400 RCV001553321 RCV001807268
NM_001374828.1(ARID1B):c.1732C>T (p.Gln578Ter)	SNV Germline	Chr6:156779412	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA366385589	rs_1554248236	2 SubmittersRCV000501251 RCV005054201
NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter)	SNV Germline	Chr6:157184315	Pathogenic	Coffin-Siris syndrome 1 Intellectual disability	Criteria Provided Single Submitter	CA366230330	rs_1554231836	2 SubmittersRCV000500865 RCV001249528
NM_001374828.1(ARID1B):c.4267C>T (p.Gln1423Ter)	SNV Germline	Chr6:157196200	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366238078	rs_1554234341	3 SubmittersRCV000500042
NM_001374828.1(ARID1B):c.4315G>A (p.Gly1439Arg)	SNV Germline	Chr6:157196248	Conflicting classifications of pathogenicity	not specified Coffin-Siris syndrome 1 Condition: not provided Inborn genetic diseases ARID1B-related disorder	Criteria Provided Conflicting Classifications	CA4067588	rs_199674889	7 SubmittersRCV000501797 RCV001807269 RCV001815395 RCV002316432 RCV004535585
NM_001374828.1(ARID1B):c.4714G>A (p.Gly1572Ser)	SNV Germline	Chr6:157200939	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4067690	rs_141461351	4 SubmittersRCV000500933 RCV002329190 RCV003139703 RCV003574779
NM_001374828.1(ARID1B):c.5240G>A (p.Arg1747Gln)	SNV Germline	Chr6:157201465	Conflicting classifications of pathogenicity	not specified Coffin-Siris syndrome 1	Criteria Provided Conflicting Classifications	CA4067773	rs_762183842	2 SubmittersRCV000499492 RCV003139704
NM_001374828.1(ARID1B):c.2170C>T (p.Gln724Ter)	SNV Germline	Chr6:156935499	Likely pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Single Submitter	CA366380407	rs_1554270809	2 SubmittersRCV000505250 RCV000512856
NM_001374828.1(ARID1B):c.3714+2T>G	SNV Germline	Chr6:157181180	Pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA366228589	rs_1404726383	1 SubmittersRCV000505225
NM_001374828.1(ARID1B):c.6895C>T (p.Gln2299Ter)	SNV Germline	Chr6:157207667	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Single Submitter	CA366249299	rs_758120346	2 SubmittersRCV000505205 RCV003128948
NM_001374828.1(ARID1B):c.3714+1G>A	SNV Germline/somatic	Chr6:157181179	Pathogenic	Medulloblastoma Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366228581	rs_1554231278	2 SubmittersRCV000505583 RCV001775127
NM_001374828.1(ARID1B):c.901C>G (p.Pro301Ala)	SNV Germline	Chr6:156778581	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Coffin-Siris syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA150802743	rs_1044746171	6 SubmittersRCV000513831 RCV002367708 RCV005398731 RCV005434986
NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala)	SNV Germline	Chr6:156778909	Conflicting classifications of pathogenicity	Condition: not provided Coffin-Siris syndrome 1 Inborn genetic diseases ARID1B-related disorder	Criteria Provided Conflicting Classifications	CA366383630	rs_1455234951	6 SubmittersRCV000522517 RCV000765880 RCV002316478 RCV004537880
NM_001374828.1(ARID1B):c.2572C>T (p.Gln858Ter)	SNV Germline	Chr6:157110552	Pathogenic	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366386733	rs_1554298232	3 SubmittersRCV000519622 RCV001775129
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter)	SNV Germline	Chr6:157207523	Pathogenic	Condition: not provided Coffin-Siris syndrome 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA366248978	rs_1554238072	14 SubmittersRCV000523285 RCV000995695 RCV002314905
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter)	SNV Germline	Chr6:157196311	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA366238872	rs_773740590	7 SubmittersRCV000578297 RCV000578964 RCV000624544
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)	SNV Germline	Chr6:157206917	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Coffin-Siris syndrome 1 ARID1B-related BAFopathy	Criteria Provided Multiple Submitters No Conflicts	CA366247636	rs_1554237658	14 SubmittersRCV000578816 RCV000622953 RCV000625417 RCV001533032
NM_001374828.1(ARID1B):c.4459G>A (p.Gly1487Ser)	SNV Germline	Chr6:157198887	Conflicting classifications of pathogenicity	Condition: not provided Coffin-Siris syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4067629	rs_151115781	5 SubmittersRCV000585064 RCV001807297 RCV002315880
NM_001374828.1(ARID1B):c.2581+5G>A	SNV Germline	Chr6:157110566	Conflicting classifications of pathogenicity	Condition: not provided See cases Coffin-Siris syndrome 1 ARID1B-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA645556457	rs_1554298239	6 SubmittersRCV000599173 RCV001420229 RCV001807301 RCV004530730 RCV004024880
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter)	SNV Germline/somatic	Chr6:157201464	Pathogenic	Condition: not provided Coffin-Siris syndrome 1 ARID1B-related BAFopathy Inborn genetic diseases Cervical cancer Squamous cell carcinoma of the head and neck Medulloblastoma WNT activated	Criteria Provided Multiple Submitters No Conflicts	CA366243193	rs_1554236040	16 SubmittersRCV000599263 RCV000677116 RCV001533026 RCV004024877 RCV005898750 RCV005898749 RCV006254111
NM_001374828.1(ARID1B):c.1867C>T (p.Gln623Ter)	SNV Germline	Chr6:156829302	Pathogenic	Inborn genetic diseases Coffin-Siris syndrome 1 ARID1B-related BAFopathy	Criteria Provided Multiple Submitters No Conflicts	CA366384047	rs_1554256703	3 SubmittersRCV000624037 RCV000679918 RCV001533085
NM_001374828.1(ARID1B):c.1987-29738G>T	SNV Germline	Chr6:156871638	Pathogenic	Inborn genetic diseases Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA4066877	rs_201653711	2 SubmittersRCV000623614 RCV000763142
NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter)	SNV Germline	Chr6:157207463	Pathogenic	Inborn genetic diseases ARID1B-related BAFopathy Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366248842	rs_1554238035	3 SubmittersRCV000624474 RCV001533061 RCV001807308
NM_003107.3(SOX4):c.198C>A (p.Phe66Leu)	SNV Germline	Chr6:21594732	Likely pathogenic	Mild intellectual disability Coffin-Siris syndrome 10 Developmental delay Mild facial and digital morphological abnormalities Intellectual disability	Criteria Provided Single Submitter	CA363269640	rs_1334099693	3 SubmittersRCV000660880 RCV000787353 RCV001261716
NM_001374828.1(ARID1B):c.2038C>T (p.Gln680Ter)	SNV Germline	Chr6:156901427	Pathogenic	Coffin-Siris syndrome 1 ARID1B-related BAFopathy	Criteria Provided Single Submitter	CA366380713	rs_1554265271	1 SubmittersRCV000679919 RCV001533087
NM_001374828.1(ARID1B):c.3597C>G (p.Tyr1199Ter)	SNV Germline	Chr6:157181061	Pathogenic	Coffin-Siris syndrome 1 ARID1B-related BAFopathy	Criteria Provided Single Submitter	CA366227648	rs_1562328526	1 SubmittersRCV000679920 RCV001533117
NM_001374828.1(ARID1B):c.4106C>A (p.Ser1369Ter)	SNV Germline	Chr6:157190085	Pathogenic	Coffin-Siris syndrome 1 ARID1B-related BAFopathy	Criteria Provided Single Submitter	CA366235085	rs_772973856	1 SubmittersRCV000679922 RCV001533019
NM_001374828.1(ARID1B):c.4905G>A (p.Trp1635Ter)	SNV Germline	Chr6:157201130	Pathogenic	Coffin-Siris syndrome 1 ARID1B-related BAFopathy	Criteria Provided Single Submitter	CA366242069	rs_1554235834	1 SubmittersRCV000679923 RCV001533024
NM_001374828.1(ARID1B):c.4509C>G (p.Tyr1503Ter)	SNV Germline	Chr6:157200734	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366240734	rs_377021700	1 SubmittersRCV000710059
NM_001374828.1(ARID1B):c.1439C>T (p.Ser480Leu)	SNV Germline	Chr6:156779119	Conflicting classifications of pathogenicity	Condition: not provided Coffin-Siris syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA366384393	rs_1235258455	5 SubmittersRCV001557395 RCV001807330 RCV002315410
NM_001374828.1(ARID1B):c.1720G>A (p.Ala574Thr)	SNV Germline	Chr6:156779400	Conflicting classifications of pathogenicity	Coffin-Siris syndrome 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA366385540	rs_1296293849	4 SubmittersRCV002493283 RCV002316761 RCV002533040
NM_001374828.1(ARID1B):c.1337C>T (p.Ala446Val)	SNV Germline	Chr6:156779017	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Coffin-Siris syndrome 1 ARID1B-related disorder	Criteria Provided Conflicting Classifications	CA4066732	rs_748273011	7 SubmittersRCV001556601 RCV002313578 RCV003486924 RCV004737976
NM_001374828.1(ARID1B):c.4379G>A (p.Arg1460Gln)	SNV Germline	Chr6:157196312	Conflicting classifications of pathogenicity	Inborn genetic diseases Coffin-Siris syndrome 1 ARID1B-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA4067605	rs_761133847	4 SubmittersRCV002316165 RCV003141720 RCV004535780 RCV005092072
NM_001374828.1(ARID1B):c.4609C>G (p.Pro1537Ala)	SNV Germline	Chr6:157200834	Conflicting classifications of pathogenicity	Inborn genetic diseases Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4067664	rs_140639463	3 SubmittersRCV002315299 RCV002499312 RCV003558544
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter)	SNV Germline	Chr6:157206623	Likely pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA366246990	rs_1451259945	1 SubmittersRCV000723328
NM_001374828.1(ARID1B):c.4794C>G (p.Tyr1598Ter)	SNV Germline	Chr6:157201019	Pathogenic	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366241531	rs_1562345819	2 SubmittersRCV000734984 RCV002250688
NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter)	SNV Germline	Chr6:157084701	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366387084	rs_1554294593	3 SubmittersRCV000760214
NM_001374828.1(ARID1B):c.5395-2A>C	SNV Germline	Chr6:157206165	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366245418	rs_1562350940	1 SubmittersRCV000760273
NM_001374828.1(ARID1B):c.3904C>T (p.Gln1302Ter)	SNV Germline	Chr6:157184420	Pathogenic	Condition: not provided Coffin-Siris syndrome Coffin-Siris syndrome 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA366230809	rs_1554231904	5 SubmittersRCV000760515 RCV003313141 RCV001807343 RCV004659196
NM_001374828.1(ARID1B):c.3236-1G>A	SNV Germline	Chr6:157174007	Conflicting classifications of pathogenicity	Condition: not provided ARID1B-related disorder Coffin-Siris syndrome 1	Criteria Provided Conflicting Classifications	CA4067258	rs_752642190	6 SubmittersRCV000782226 RCV004535914 RCV005870860
NM_003107.3(SOX4):c.334G>C (p.Ala112Pro)	SNV Germline	Chr6:21594868	Pathogenic/Likely pathogenic	Coffin-Siris syndrome 10 Intellectual disability Developmental delay Mild facial and digital morphological abnormalities	No Assertion Criteria Provided	CA363270097	rs_1464282327	2 SubmittersRCV000787354 RCV001261717
NM_003107.3(SOX4):c.176T>G (p.Ile59Ser)	SNV Germline	Chr6:21594710	Pathogenic/Likely pathogenic	Coffin-Siris syndrome 10 Intellectual disability Developmental delay Mild facial and digital morphological abnormalities	No Assertion Criteria Provided	CA363269590	rs_1582601669	2 SubmittersRCV000787355 RCV001261718
NM_003107.3(SOX4):c.315G>T (p.Lys105Asn)	SNV Germline	Chr6:21594849	Pathogenic/Likely pathogenic	Coffin-Siris syndrome 10 Intellectual disability Developmental delay Mild facial and digital morphological abnormalities	No Assertion Criteria Provided	CA363270004	rs_1582601747	2 SubmittersRCV000787356 RCV001261719
NM_001374828.1(ARID1B):c.3770C>G (p.Ser1257Ter)	SNV Unknown	Chr6:157184286	Likely pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA366230222	rs_1583469292	1 SubmittersRCV000788110
NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr)	SNV Germline	Chr6:157207035	Likely pathogenic	Marfanoid habitus and intellectual disability Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366247891	rs_1583516082	2 SubmittersRCV000850432 RCV002226742
NM_001374828.1(ARID1B):c.3937C>T (p.Gln1313Ter)	SNV Germline	Chr6:157189659	Pathogenic	Coffin-Siris syndrome 1 ARID1B-related BAFopathy	Criteria Provided Single Submitter	CA366234029	rs_1554232919	1 SubmittersRCV000850528 RCV001533120
NM_001374828.1(ARID1B):c.3345G>A (p.Lys1115=)	SNV Germline	Chr6:157174117	Pathogenic/Likely pathogenic	Coffin-Siris syndrome 1 Condition: not provided Coffin-Siris syndrome	Criteria Provided Multiple Submitters No Conflicts	CA452779887	rs_1583451360	3 SubmittersRCV000856774 RCV003233868 RCV006449374
NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter)	SNV Germline	Chr6:157196232	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366238339	rs_1583491515	2 SubmittersRCV000987809
NM_001374828.1(ARID1B):c.1870C>T (p.Gln624Ter)	SNV Germline	Chr6:156829305	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366384068	rs_754167205	1 SubmittersRCV000995694
NM_003076.5(SMARCD1):c.990C>G (p.Asp330Glu)	SNV Germline	Chr12:50090357	Pathogenic	Coffin-Siris syndrome 11	No Assertion Criteria Provided	CA384792124	rs_1592289150	1 SubmittersRCV001003485
NM_003076.5(SMARCD1):c.1336A>G (p.Arg446Gly)	SNV Germline	Chr12:50096916	Pathogenic	Coffin-Siris syndrome 11	No Assertion Criteria Provided	CA384795236	rs_1592294569	1 SubmittersRCV001003486
NM_003076.5(SMARCD1):c.1457G>A (p.Trp486Ter)	SNV Germline	Chr12:50098778	Pathogenic	Coffin-Siris syndrome 11	No Assertion Criteria Provided	CA384797045	rs_1592295890	1 SubmittersRCV001003487
NM_003076.5(SMARCD1):c.1483T>C (p.Phe495Leu)	SNV Germline	Chr12:50098804	Pathogenic	Coffin-Siris syndrome 11	No Assertion Criteria Provided	CA384797193	rs_1592295914	1 SubmittersRCV001003488
NM_003076.5(SMARCD1):c.1507C>T (p.Arg503Ter)	SNV Germline	Chr12:50098959	Pathogenic	Coffin-Siris syndrome 11 Condition: not provided	Criteria Provided Single Submitter	CA384797402	rs_372368908	2 SubmittersRCV001003489 RCV001564444
NM_001374828.1(ARID1B):c.5774G>A (p.Arg1925Gln)	SNV Germline	Chr6:157206546	Conflicting classifications of pathogenicity	Microcephaly Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4067897	rs_751043203	3 SubmittersRCV001252730 RCV002479199 RCV005093042
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter)	SNV Germline	Chr6:156901496	Pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA366380893	rs_1554265316	1 SubmittersRCV001028057
NM_001374828.1(ARID1B):c.3946C>T (p.Gln1316Ter)	SNV Germline	Chr6:157189668	Pathogenic	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366234048	rs_1554232925	2 SubmittersRCV001049055 RCV002272397
NM_001374828.1(ARID1B):c.3266C>T (p.Pro1089Leu)	SNV Germline	Chr6:157174038	Conflicting classifications of pathogenicity	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Conflicting Classifications	CA4067264	rs_540277176	3 SubmittersRCV001090775 RCV005232122
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter)	SNV Germline	Chr6:157200782	Likely pathogenic	Coffin-Siris syndrome Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366240921	rs_1794042593	2 SubmittersRCV001195289 RCV003225960
NM_001374828.1(ARID1B):c.1987-10T>G	SNV Germline	Chr6:156901366	Conflicting classifications of pathogenicity	Coffin-Siris syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA571907258	rs_1276255111	2 SubmittersRCV001197541 RCV003490108
NM_001374828.1(ARID1B):c.4479+1G>T	SNV Germline	Chr6:157198908	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366239931	rs_1554235041	2 SubmittersRCV001197917
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr)	SNV Germline	Chr6:157133061	Conflicting classifications of pathogenicity	Condition: not provided Coffin-Siris syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4067105	rs_761093701	6 SubmittersRCV001200524 RCV001807390 RCV002447043
NM_001374828.1(ARID1B):c.3277A>T (p.Lys1093Ter)	SNV Germline	Chr6:157174049	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366224419	rs_902091666	1 SubmittersRCV001249188
NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter)	SNV Germline	Chr6:157206407	Pathogenic/Likely pathogenic	Coffin-Siris syndrome Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366246283	rs_1794456297	2 SubmittersRCV001249783 RCV003225962
NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro)	SNV Germline	Chr6:157207389	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366248674	rs_1794550318	1 SubmittersRCV001250800
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter)	SNV Germline	Chr6:156779469	Pathogenic/Likely pathogenic	Intellectual disability Inborn genetic diseases Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366385799	rs_1779032666	3 SubmittersRCV001255334 RCV001267290 RCV001253257
NM_001374828.1(ARID1B):c.5394+3A>C	SNV Unknown	Chr6:157203999	Likely pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA1139659335	rs_1794283740	1 SubmittersRCV001261230
NM_001374828.1(ARID1B):c.5826G>A (p.Trp1942Ter)	SNV Germline	Chr6:157206598	Pathogenic	Condition: not provided Coffin-Siris syndrome 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA366246935	rs_1554237335	3 SubmittersRCV001268743 RCV002464433 RCV004960667
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter)	SNV Germline	Chr6:157196275	Likely pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA366238647	rs_1554234402	1 SubmittersRCV001283817
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter)	SNV Germline	Chr6:157133192	Pathogenic	Autism spectrum disorder Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366388555	rs_1554301257	2 SubmittersRCV001291272 RCV004594267
NM_001374828.1(ARID1B):c.6410G>A (p.Trp2137Ter)	SNV Germline	Chr6:157207182	Pathogenic	Condition: not provided Coffin-Siris syndrome 1 ARID1B-related BAFopathy	Criteria Provided Multiple Submitters No Conflicts	CA366248218	rs_1554237850	3 SubmittersRCV001291576 RCV001332344 RCV001533034
NM_001374828.1(ARID1B):c.7052C>G (p.Ser2351Ter)	SNV Germline	Chr6:157207824	Pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA366249647	rs_1794583960	1 SubmittersRCV001293711
NM_001374828.1(ARID1B):c.1114G>A (p.Gly372Arg)	SNV Germline	Chr6:156778794	Conflicting classifications of pathogenicity	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA366383113	rs_926297805	2 SubmittersRCV001332345 RCV003558812
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val)	SNV Germline	Chr6:156779059	Conflicting classifications of pathogenicity	Coffin-Siris syndrome 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA366384179	rs_1274183370	5 SubmittersRCV001331136 RCV001587349 RCV002546448
NM_001374828.1(ARID1B):c.5912C>T (p.Pro1971Leu)	SNV Germline	Chr6:157206684	Conflicting classifications of pathogenicity	Coffin-Siris syndrome 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA150378481	rs_962264300	3 SubmittersRCV001332343 RCV002546551 RCV004960794
NM_001374828.1(ARID1B):c.1876A>G (p.Ser626Gly)	SNV Germline	Chr6:156829311	Conflicting classifications of pathogenicity	Coffin-Siris syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA366384108	rs_1214970789	2 SubmittersRCV001336507 RCV003284214
NM_001374828.1(ARID1B):c.6172G>A (p.Ala2058Thr)	SNV Germline	Chr6:157206944	Conflicting classifications of pathogenicity	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4067967	rs_772464386	3 SubmittersRCV001334087 RCV003433118
NM_001394372.1(BICRA):c.1993C>T (p.Gln665Ter)	SNV Germline	Chr19:47681163	Pathogenic	Coffin-Siris syndrome 12	No Assertion Criteria Provided	CA406616603	rs_1229548274	1 SubmittersRCV001431523
NM_001394372.1(BICRA):c.192G>C (p.Glu64Asp)	SNV Germline	Chr19:47679362	Pathogenic	Coffin-Siris syndrome 12	No Assertion Criteria Provided	CA406607939	rs_2123584339	1 SubmittersRCV001431529
NM_001374828.1(ARID1B):c.3345G>C (p.Lys1115Asn)	SNV Germline	Chr6:157174117	Pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA366224666	rs_1583451360	1 SubmittersRCV001527606
NM_001374828.1(ARID1B):c.3585G>A (p.Trp1195Ter)	SNV Germline	Chr6:157181049	Pathogenic	ARID1B-related BAFopathy Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366227554	rs_1554231205	2 SubmittersRCV001533115 RCV005432746
NM_001374828.1(ARID1B):c.4150C>T (p.Gln1384Ter)	SNV Germline	Chr6:157190129	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA366235333	rs_1182325800	3 SubmittersRCV001542338 RCV006275095
NM_001374828.1(ARID1B):c.5896C>T (p.Arg1966Cys)	SNV Germline	Chr6:157206668	Likely pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA366247100	rs_1369594791	1 SubmittersRCV001543360
NM_001374828.1(ARID1B):c.2773A>T (p.Arg925Ter)	SNV Germline	Chr6:157148635	Pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA366388626	rs_1554226001	1 SubmittersRCV001822882
NM_003107.3(SOX4):c.1040C>A (p.Ser347Ter)	SNV Germline	Chr6:21595574	Pathogenic/Likely pathogenic	Coffin-Siris syndrome 10	Criteria Provided Multiple Submitters No Conflicts	CA363271826	rs_2113558441	2 SubmittersRCV001598703
NM_001374828.1(ARID1B):c.1280C>T (p.Ala427Val)	SNV Germline	Chr6:156778960	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Coffin-Siris syndrome 1 ARID1B-related disorder	Criteria Provided Conflicting Classifications	CA4066731	rs_530780611	6 SubmittersRCV001684943 RCV002386500 RCV003136125 RCV004536250
NM_001374828.1(ARID1B):c.6344C>T (p.Pro2115Leu)	SNV Germline	Chr6:157207116	Conflicting classifications of pathogenicity	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Conflicting Classifications	CA4067998	rs_368420323	4 SubmittersRCV001755080 RCV003136139
NM_001374828.1(ARID1B):c.4921C>T (p.Gln1641Ter)	SNV Germline	Chr6:157201146	Pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA366242107	rs_1554235841	1 SubmittersRCV001771814
NM_001374828.1(ARID1B):c.1560C>G (p.Tyr520Ter)	SNV Germline	Chr6:156779240	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA366384892	rs_2114999746	4 SubmittersRCV001775282 RCV001843596
NM_001374828.1(ARID1B):c.5218C>T (p.Gln1740Ter)	SNV Germline	Chr6:157201443	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA366243111	rs_1554236027	3 SubmittersRCV001775449 RCV004728808
NM_001374828.1(ARID1B):c.5264-2A>G	SNV Germline	Chr6:157203864	Pathogenic/Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366243712	rs_1794274425	2 SubmittersRCV001809077
NM_001374828.1(ARID1B):c.6236C>G (p.Ser2079Ter)	SNV Unknown	Chr6:157207008	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366247831	rs_2128395778	1 SubmittersRCV001843736
NM_001374828.1(ARID1B):c.5263+1G>T	SNV Germline	Chr6:157201489	Pathogenic	Condition: not provided Coffin-Siris syndrome 1 Acute myeloid leukemia Squamous cell lung carcinoma	Criteria Provided Single Submitter	CA366243331	rs_2128377544	3 SubmittersRCV001848638 RCV002246549 RCV005922798 RCV005922797
NM_001374828.1(ARID1B):c.869C>A (p.Ala290Asp)	SNV Germline	Chr6:156778549	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Coffin-Siris syndrome 1 Coffin-Siris syndrome	Criteria Provided Conflicting Classifications	CA150802741	rs_920305028	5 SubmittersRCV001919520 RCV002352591 RCV003136312 RCV005361835
NM_001374828.1(ARID1B):c.2762G>T (p.Gly921Val)	SNV Germline	Chr6:157148624	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366388602	rs_2128633891	1 SubmittersRCV002074476
NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter)	SNV Unknown	Chr6:156901414	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366380682	rs_773640553	1 SubmittersRCV002226564
NM_001374828.1(ARID1B):c.4552C>T (p.Gln1518Ter)	SNV Germline	Chr6:157200777	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA366240908	rs_1554235541	2 SubmittersRCV002226988 RCV003718450
NM_001374828.1(ARID1B):c.2248-2A>G	SNV Germline	Chr6:157084660	Pathogenic/Likely pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA366386943	rs_2128462015	2 SubmittersRCV002249270 RCV003679079
NM_001394372.1(BICRA):c.3248+1G>A	SNV Germline	Chr19:47696513	Pathogenic	Coffin-Siris syndrome 12	Criteria Provided Single Submitter	CA406622082	rs_1490477251	1 SubmittersRCV002249297
NM_003107.3(SOX4):c.975C>G (p.Tyr325Ter)	SNV Germline	Chr6:21595509	Pathogenic	Coffin-Siris syndrome 10	Criteria Provided Single Submitter	CA363271693	rs_1305965061	1 SubmittersRCV002246736
NM_001374828.1(ARID1B):c.4522A>T (p.Lys1508Ter)	SNV Germline	Chr6:157200747	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366240795	rs_1554235505	1 SubmittersRCV002272912
NM_001394372.1(BICRA):c.3529C>T (p.Arg1177Ter)	SNV Unknown	Chr19:47699339	Likely pathogenic	Coffin-Siris syndrome 12	Criteria Provided Single Submitter	CA406607631	rs_1375723922	1 SubmittersRCV002274300
NM_001374828.1(ARID1B):c.5395-1G>A	SNV Germline	Chr6:157206166	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366245427	rs_2538754639	1 SubmittersRCV002283887
NM_001374828.1(ARID1B):c.5047C>T (p.Gln1683Ter)	SNV Germline	Chr6:157201272	Pathogenic/Likely pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA366242378	rs_1554235916	3 SubmittersRCV002290255 RCV003120883
NM_001374828.1(ARID1B):c.5570A>G (p.Asp1857Gly)	SNV Germline	Chr6:157206342	Conflicting classifications of pathogenicity	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Conflicting Classifications	CA366245893	rs_2538758120	2 SubmittersRCV002301868 RCV004720363
NM_001374828.1(ARID1B):c.2851C>T (p.Gln951Ter)	SNV Germline	Chr6:157148713	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366388796	rs_1168117828	1 SubmittersRCV002302432
NM_001374828.1(ARID1B):c.1842G>A (p.Met614Ile)	SNV Germline	Chr6:156829277	Conflicting classifications of pathogenicity	Inborn genetic diseases Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA150808636	rs_1048427417	3 SubmittersRCV002398490 RCV003138248 RCV003565553
NM_001394372.1(BICRA):c.1921C>T (p.Gln641Ter)	SNV Germline	Chr19:47681091	Pathogenic	Coffin-Siris syndrome 12	Criteria Provided Single Submitter	CA406616376	rs_2514111647	1 SubmittersRCV002463409
NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val)	SNV Germline	Chr6:157084894	Conflicting classifications of pathogenicity	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA366387475	rs_2128463445	3 SubmittersRCV002465421 RCV005639425
NM_001374828.1(ARID1B):c.3589G>A (p.Asp1197Asn)	SNV Germline	Chr6:157181053	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA4067350	rs_761227259	1 SubmittersRCV002465428
NM_001374828.1(ARID1B):c.6224T>G (p.Val2075Gly)	SNV Germline	Chr6:157206996	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366247805	rs_2128395673	1 SubmittersRCV002470630
NM_001374828.1(ARID1B):c.4526G>T (p.Arg1509Leu)	SNV Germline	Chr6:157200751	Conflicting classifications of pathogenicity	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Conflicting Classifications	CA366240822	rs_1049209609	2 SubmittersRCV002638233 RCV003140141
NM_001374828.1(ARID1B):c.2918G>T (p.Gly973Val)	SNV Germline	Chr6:157148780	Conflicting classifications of pathogenicity	Condition: not provided Coffin-Siris syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4067164	rs_771600870	3 SubmittersRCV003118298 RCV003140246 RCV004961177
NM_001374828.1(ARID1B):c.395C>T (p.Ser132Phe)	SNV Germline	Chr6:156778075	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Conflicting Classifications	CA4066616	rs_375486386	3 SubmittersRCV002775737 RCV002800389 RCV005034417
NM_001374828.1(ARID1B):c.4795C>T (p.Gln1599Ter)	SNV Germline	Chr6:157201020	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA366241538	rs_2538678370	2 SubmittersRCV005869950 RCV002957709
NM_001374828.1(ARID1B):c.4957C>T (p.Gln1653Ter)	SNV Germline	Chr6:157201182	Pathogenic/Likely pathogenic	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366242188	rs_2128375131	2 SubmittersRCV003029797 RCV005415652
NM_001374828.1(ARID1B):c.5807A>G (p.Asn1936Ser)	SNV Germline	Chr6:157206579	Conflicting classifications of pathogenicity	Inborn genetic diseases Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4067903	rs_139181534	3 SubmittersRCV002830474 RCV003487050 RCV003561102
NM_001374828.1(ARID1B):c.4232-1G>A	SNV Germline	Chr6:157196164	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366237824	rs_2128355925	1 SubmittersRCV003140494
NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter)	SNV Germline	Chr6:157207179	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366248209	rs_2538782467	1 SubmittersRCV003140573
NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter)	SNV Germline	Chr6:157200782	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366240920	rs_1794042593	1 SubmittersRCV003134975
NM_001374828.1(ARID1B):c.2345A>G (p.Gln782Arg)	SNV Germline	Chr6:157084759	Conflicting classifications of pathogenicity	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4067022	rs_368202669	2 SubmittersRCV003141523 RCV003542472
NM_001374828.1(ARID1B):c.765C>A (p.Asp255Glu)	SNV Germline	Chr6:156778445	Conflicting classifications of pathogenicity	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA366382058	rs_1171803835	2 SubmittersRCV003141526 RCV005099366
NM_001374828.1(ARID1B):c.662A>G (p.Asn221Ser)	SNV Germline	Chr6:156778342	Conflicting classifications of pathogenicity	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4066678	rs_561130072	3 SubmittersRCV003141531 RCV005642941
NM_001394372.1(BICRA):c.1933C>T (p.Gln645Ter)	SNV Unknown	Chr19:47681103	Likely pathogenic	Coffin-Siris syndrome 12	Criteria Provided Single Submitter	CA406616418	rs_2514111692	1 SubmittersRCV003147923
NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter)	SNV Unknown	Chr6:157148774	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366388922	rs_2128634414	1 SubmittersRCV003148239
NM_001374828.1(ARID1B):c.1648C>T (p.Gln550Ter)	SNV Germline	Chr6:156779328	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366385251	rs_1779009539	1 SubmittersRCV003149146
NM_003107.3(SOX4):c.1333G>T (p.Glu445Ter)	SNV Germline	Chr6:21595867	Pathogenic	Coffin-Siris syndrome 10 Condition: not provided	Criteria Provided Single Submitter	CA363272424	rs_2532642024	2 SubmittersRCV003152402 RCV004721158
NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter)	SNV Unknown	Chr6:157207391	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366248678	rs_1554237988	1 SubmittersRCV003153005
NM_001374828.1(ARID1B):c.2491G>C (p.Gly831Arg)	SNV Germline	Chr6:157084905	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366387497	rs_2128463505	1 SubmittersRCV003225658
NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)	SNV Germline	Chr6:157201029	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366241596	rs_1380267781	1 SubmittersRCV003226094
NM_001374828.1(ARID1B):c.6218A>G (p.Asn2073Ser)	SNV Germline	Chr6:157206990	Conflicting classifications of pathogenicity	Coffin-Siris syndrome 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4067972	rs_762587131	3 SubmittersRCV003233250 RCV004285649 RCV005102470
NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter)	SNV Unknown	Chr6:157184237	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366229929	rs_1554231792	1 SubmittersRCV003314269
NM_001374828.1(ARID1B):c.3813C>G (p.Tyr1271Ter)	SNV Unknown	Chr6:157184329	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366230393	rs_2128325330	1 SubmittersRCV003314319
NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter)	SNV Germline	Chr6:157200863	Pathogenic/Likely pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA366241101	rs_2128373069	2 SubmittersRCV003314378 RCV005102865
NM_003107.3(SOX4):c.281G>A (p.Gly94Asp)	SNV Germline	Chr6:21594815	Likely pathogenic	Coffin-Siris syndrome 10	Criteria Provided Single Submitter	CA363269850	rs_2532639300	1 SubmittersRCV003329106
NM_001374828.1(ARID1B):c.421G>A (p.Ala141Thr)	SNV Germline	Chr6:156778101	Conflicting classifications of pathogenicity	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Conflicting Classifications	CA4066621	rs_772615576	2 SubmittersRCV003432126 RCV003487070
NM_001374828.1(ARID1B):c.5825G>A (p.Trp1942Ter)	SNV Germline	Chr6:157206597	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366246934	rs_1554237332	1 SubmittersRCV003444039
NM_001374828.1(ARID1B):c.3061C>T (p.Gln1021Ter)	SNV Germline	Chr6:157148923	Pathogenic/Likely pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA366389253	rs_1554226145	3 SubmittersRCV003444085 RCV004775402
NM_001374828.1(ARID1B):c.3235+2T>A	SNV Germline	Chr6:157167187	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366389651	rs_1583439013	1 SubmittersRCV003456355
NM_001374828.1(ARID1B):c.5926G>A (p.Ala1976Thr)	SNV Germline	Chr6:157206698	Conflicting classifications of pathogenicity	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4067923	rs_183921218	2 SubmittersRCV003487078 RCV005100312
NM_001394372.1(BICRA):c.3300C>A (p.Tyr1100Ter)	SNV Germline	Chr19:47698685	Pathogenic	Coffin-Siris syndrome 12	Criteria Provided Single Submitter	CA406622517	rs_1973387849	1 SubmittersRCV003493344
NM_001374828.1(ARID1B):c.4692C>A (p.His1564Gln)	SNV Germline	Chr6:157200917	Conflicting classifications of pathogenicity	Condition: not provided Coffin-Siris syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA366241224	rs_917868982	3 SubmittersRCV003562658 RCV005036894 RCV005475409
NM_001374828.1(ARID1B):c.1021C>T (p.Gln341Ter)	SNV Germline	Chr6:156778701	Pathogenic	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA366382827	rs_1778885211	2 SubmittersRCV003687588 RCV005230547
NM_001374828.1(ARID1B):c.6880C>T (p.Gln2294Ter)	SNV Germline	Chr6:157207652	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA366249263	rs_1554238124	2 SubmittersRCV003983782 RCV005363319
NM_001374828.1(ARID1B):c.951T>G (p.Tyr317Ter)	SNV Germline	Chr6:156778631	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter	CA366382562	rs_2546829263	1 SubmittersRCV003990206
NM_001374828.1(ARID1B):c.7052C>A (p.Ser2351Ter)	SNV Germline	Chr6:157207824	Likely pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided	CA366249646	rs_1794583960	1 SubmittersRCV004556168
NM_003107.3(SOX4):c.335C>A (p.Ala112Glu)	SNV Germline	Chr6:21594869	Likely pathogenic	Coffin-Siris syndrome 10	Criteria Provided Single Submitter		rs_2532639461	1 SubmittersRCV004594835
NM_001374828.1(ARID1B):c.1729C>T (p.Gln577Ter)	SNV Germline	Chr6:156779409	Pathogenic	Coffin-Siris syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2546846179	2 SubmittersRCV004594889 RCV006564997
NM_001374828.1(ARID1B):c.6533G>A (p.Trp2178Ter)	SNV Germline	Chr6:157207305	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004596707
NM_001374828.1(ARID1B):c.1651C>T (p.Gln551Ter)	SNV Germline	Chr6:156779331	Pathogenic	Condition: not provided Coffin-Siris syndrome 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004721850 RCV006254413
NM_001374828.1(ARID1B):c.1718G>A (p.Trp573Ter)	SNV Germline	Chr6:156779398	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004776338
NM_001394372.1(BICRA):c.3631C>G (p.Pro1211Ala)	SNV Germline	Chr19:47701363	Conflicting classifications of pathogenicity	Coffin-Siris syndrome 12 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV004785000 RCV005256990
NM_001374828.1(ARID1B):c.4479+2T>C	SNV Germline	Chr6:157198909	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004785162
NM_001394372.1(BICRA):c.2018G>C (p.Ser673Thr)	SNV Germline	Chr19:47681188	Likely pathogenic	Coffin-Siris syndrome 12	Criteria Provided Single Submitter			1 SubmittersRCV004785232
NM_001374828.1(ARID1B):c.4726C>T (p.Gln1576Ter)	SNV Germline	Chr6:157200951	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004799134
NM_001374828.1(ARID1B):c.3704G>C (p.Gly1235Ala)	SNV Germline	Chr6:157181168	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004808513
NM_003107.3(SOX4):c.200T>C (p.Met67Thr)	SNV Germline	Chr6:21594734	Likely pathogenic	Coffin-Siris syndrome 10	Criteria Provided Single Submitter			1 SubmittersRCV004819983
NM_001374828.1(ARID1B):c.3341C>G (p.Ser1114Ter)	SNV Germline	Chr6:157174113	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004823273
NM_001330288.2(SMARCC2):c.2549-2A>G	SNV Germline	Chr12:56169697	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005055432
NM_003107.3(SOX4):c.185C>T (p.Pro62Leu)	SNV Germline	Chr6:21594719	Likely pathogenic	Coffin-Siris syndrome 10	Criteria Provided Single Submitter			1 SubmittersRCV005087579
NM_003076.5(SMARCD1):c.1271T>C (p.Ile424Thr)	SNV Germline	Chr12:50096851	Likely pathogenic	Coffin-Siris syndrome 11	Criteria Provided Single Submitter			1 SubmittersRCV005233466
NM_003107.3(SOX4):c.185C>G (p.Pro62Arg)	SNV Germline	Chr6:21594719	Likely pathogenic	Coffin-Siris syndrome 10	Criteria Provided Single Submitter			1 SubmittersRCV005638220
NM_001374828.1(ARID1B):c.4763G>A (p.Trp1588Ter)	SNV Germline	Chr6:157200988	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005255225
NM_001374828.1(ARID1B):c.2247+1G>C	SNV Germline	Chr6:156935577	Pathogenic	Coffin-Siris syndrome 1	No Assertion Criteria Provided			1 SubmittersRCV005865108
NM_001374828.1(ARID1B):c.5317G>T (p.Glu1773Ter)	SNV Germline	Chr6:157203919	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005416018
NM_003107.3(SOX4):c.1274C>A (p.Ser425Ter)	SNV Germline	Chr6:21595808	Pathogenic	Coffin-Siris syndrome 10	Criteria Provided Single Submitter			1 SubmittersRCV005625071
NM_001374828.1(ARID1B):c.4730C>A (p.Ser1577Ter)	SNV Germline	Chr6:157200955	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005860781
NM_003108.4(SOX11):c.187G>C (p.Glu63Gln)	SNV Unknown	Chr2:5692908	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005861997
NM_003107.3(SOX4):c.251T>G (p.Met84Arg)	SNV Unknown	Chr6:21594785	Likely pathogenic	Coffin-Siris syndrome 10	Criteria Provided Single Submitter			1 SubmittersRCV005861999
NM_001374828.1(ARID1B):c.2491+1G>A	SNV Germline	Chr6:157084906	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005882622
NM_001394372.1(BICRA):c.2104C>T (p.Gln702Ter)	SNV Germline	Chr19:47681274	Likely pathogenic	Coffin-Siris syndrome 12	Criteria Provided Single Submitter			1 SubmittersRCV005885834
NM_001374828.1(ARID1B):c.1791+1G>A	SNV Germline	Chr6:156779472	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005880911
NM_001374828.1(ARID1B):c.2335C>T (p.Gln779Ter)	SNV Germline	Chr6:157084749	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV006258238
NM_001374828.1(ARID1B):c.4633C>T (p.Gln1545Ter)	SNV Germline	Chr6:157200858	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV006258239
NM_001374828.1(ARID1B):c.2581+1G>T	SNV Germline	Chr6:157110562	Likely pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV006454986
NM_001374828.1(ARID1B):c.3584G>A (p.Trp1195Ter)	SNV Germline	Chr6:157181048	Pathogenic	Coffin-Siris syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV006455033

NM_001374828.1(ARID1B):c.4288C>T (p.Gln1430Ter)

SNV
Germline

Chr6:157196221

Pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA129762

rs_387907140

1 SubmittersRCV000024207

NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter)

SNV
Germline

Chr6:157181137

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided
ARID1B-related BAFopathy
Autosomal dominant ARID1B-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA129764

rs_387907141

8 SubmittersRCV000024209 RCV000254764 RCV001533118 RCV006633888

NM_001374828.1(ARID1B):c.4407T>A (p.Tyr1469Ter)

SNV
Germline

Chr6:157198835

Pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA10575558

rs_748363079

1 SubmittersRCV000024211

NM_001374828.1(ARID1B):c.2113C>T (p.Gln705Ter)

SNV
Germline

Chr6:156901502

Pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA129766

rs_387907142

1 SubmittersRCV000024212

NM_001374828.1(ARID1B):c.5698A>T (p.Lys1900Ter)

SNV
Germline

Chr6:157206470

Pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA129768

rs_387907143

1 SubmittersRCV000024214

NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter)

SNV
Germline

Chr6:157181056

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided
Inborn genetic diseases
ARID1B-related BAFopathy
ARID1B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA129770

rs_387907144

9 SubmittersRCV000024215 RCV000481866 RCV000624305 RCV001533116 RCV004737163

NM_001374828.1(ARID1B):c.6319G>T (p.Glu2107Ter)

SNV
Germline

Chr6:157207091

Pathogenic

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA236275

rs_786205584

1 SubmittersRCV000171404 RCV003989483

NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)

SNV
Germline

Chr6:157148764

Pathogenic

Condition: not provided
Autism spectrum disorder
Coffin-Siris syndrome 1
ARID1B-related BAFopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA203785

rs_794727977

7 SubmittersRCV000358610 RCV001291271 RCV001330749 RCV001533110

NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser)

SNV
Germline

Chr6:156778126

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Coffin-Siris syndrome 1
Inborn genetic diseases
ARID1B-related disorder

Criteria Provided
Conflicting Classifications

CA209558

rs_776745618

8 SubmittersRCV000195009 RCV000513748 RCV001807122 RCV002415818 RCV004530099

NM_001374828.1(ARID1B):c.2205A>T (p.Glu735Asp)

SNV
Germline

Chr6:156935534

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Coffin-Siris syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA205671

rs_139125255

6 SubmittersRCV000192682 RCV001547679 RCV001731510 RCV002415819

NM_001374828.1(ARID1B):c.2359C>T (p.Gln787Ter)

SNV
Germline

Chr6:157084773

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA209839

rs_753933273

4 SubmittersRCV000195185 RCV000520794

NM_001374828.1(ARID1B):c.2379T>C (p.His793=)

SNV
Germline

Chr6:157084793

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Coffin-Siris syndrome 1
ARID1B-related disorder

Criteria Provided
Conflicting Classifications

CA206553

rs_370364530

5 SubmittersRCV000193218 RCV001668359 RCV001807123 RCV004530100

NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter)

SNV
Germline

Chr6:157084872

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA207644

rs_797045272

6 SubmittersRCV000193875 RCV000578614

NM_001374828.1(ARID1B):c.3105C>T (p.Pro1035=)

SNV
Germline

Chr6:157167055

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Coffin-Siris syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA209938

rs_144894118

6 SubmittersRCV000195254 RCV001682906 RCV001807124 RCV002314777

NM_001374828.1(ARID1B):c.3195G>A (p.Pro1065=)

SNV
Germline

Chr6:157167145

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Coffin-Siris syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA206652

rs_537901478

6 SubmittersRCV000193281 RCV001553239 RCV001807125 RCV002314778

NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)

SNV
Germline

Chr6:157198907

Pathogenic/Likely pathogenic

7 conditions
Coffin-Siris syndrome 1
Condition: not provided
Inborn genetic diseases
See cases
ARID1B-related BAFopathy
ARID1B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA207808

rs_797045277

16 SubmittersRCV000415059 RCV000416951 RCV000657879 RCV001266859 RCV001420197 RCV001533021 RCV004528976

NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter)

SNV
Germline

Chr6:157200930

Pathogenic/Likely pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA206215

rs_797045278

2 SubmittersRCV000193003 RCV005055695

NM_001374828.1(ARID1B):c.5027C>T (p.Ala1676Val)

SNV
Germline

Chr6:157201252

Conflicting classifications of pathogenicity

not specified
Coffin-Siris syndrome 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA207943

rs_762698567

4 SubmittersRCV000194045 RCV001807128 RCV002317669 RCV003556243

NM_001374828.1(ARID1B):c.5678C>T (p.Ala1893Val)

SNV
Germline

Chr6:157206450

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Coffin-Siris syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA205348

rs_201137071

7 SubmittersRCV000192497 RCV000998731 RCV001807130 RCV003165428

NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)

SNV
Germline

Chr6:157206545

Pathogenic

Coffin-Siris syndrome 1
Inborn genetic diseases
Condition: not provided
ARID1B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA206469

rs_797045282

11 SubmittersRCV000193164 RCV000624857 RCV001269579 RCV004725042

NM_001374828.1(ARID1B):c.6049C>T (p.Pro2017Ser)

SNV
Germline

Chr6:157206821

Conflicting classifications of pathogenicity

not specified
Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA208181

rs_774509236

4 SubmittersRCV000194179 RCV000765881 RCV005089974

NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)

SNV
Germline

Chr6:157207109

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided
ARID1B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA209106

rs_797045283

7 SubmittersRCV000194737 RCV000523275 RCV004737299

NM_001374828.1(ARID1B):c.6963G>A (p.Ala2321=)

SNV
Germline

Chr6:157207735

Conflicting classifications of pathogenicity

not specified
Coffin-Siris syndrome 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA207495

rs_754242891

6 SubmittersRCV000193775 RCV001807132 RCV001753594 RCV002314782

NM_001374828.1(ARID1B):c.6469C>T (p.Gln2157Ter)

SNV
Germline

Chr6:157207241

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA358558

rs_869312697

1 SubmittersRCV000209939

NM_001374828.1(ARID1B):c.2452C>T (p.Gln818Ter)

SNV
Germline

Chr6:157084866

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA358556

rs_869312712

1 SubmittersRCV000209876

NM_001374828.1(ARID1B):c.5707C>T (p.Gln1903Ter)

SNV
Germline

Chr6:157206479

Pathogenic

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10602933

rs_750447037

3 SubmittersRCV000276336 RCV001807205

NM_001374828.1(ARID1B):c.4383-1G>A

SNV
Germline

Chr6:157198810

Pathogenic

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10606985

rs_886044620

3 SubmittersRCV000261577 RCV001197143

NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser)

SNV
Germline

Chr6:157110561

Likely pathogenic

Condition: not provided
Coffin-Siris syndrome 1
ARID1B-related BAFopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16042661

rs_1057518045

2 SubmittersRCV000413516 RCV001336508 RCV001533090

NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter)

SNV
Germline

Chr6:156829296

Pathogenic

Corpus callosum, agenesis of
Nail dysplasia
Hypertrichosis
Neonatal hypotonia
Global developmental delay
Inborn genetic diseases
Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16043413

rs_1057518951

3 SubmittersRCV000414997 RCV002524668 RCV003313067 RCV001196338

NM_001374828.1(ARID1B):c.266G>A (p.Gly89Asp)

SNV
Germline

Chr6:156777946

Likely pathogenic

Coffin-Siris syndrome 1
ARID1B-related BAFopathy

Criteria Provided
Single Submitter

CA16043663

rs_1057518648

1 SubmittersRCV000414923 RCV001533081

NM_001374828.1(ARID1B):c.4058+1G>C

SNV
Germline

Chr6:157189781

Pathogenic

Coffin-Siris syndrome 1
ARID1B-related BAFopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16043721

rs_1057518691

2 SubmittersRCV000415272 RCV001533123

NM_001374828.1(ARID1B):c.2582-2A>C

SNV
Germline

Chr6:157133026

Conflicting classifications of pathogenicity

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Conflicting Classifications

CA16605057

rs_1057524160

3 SubmittersRCV000426914 RCV001331137

NM_001374828.1(ARID1B):c.5672C>T (p.Pro1891Leu)

SNV
Germline

Chr6:157206444

Conflicting classifications of pathogenicity

not specified
Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4067880

rs_142466273

4 SubmittersRCV000445047 RCV001770292 RCV003237843

NM_001374828.1(ARID1B):c.1984C>T (p.Gln662Ter)

SNV
Germline

Chr6:156829419

Pathogenic

Nicolaides-Baraitser syndrome
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16609413

rs_1060499668

2 SubmittersRCV000449505 RCV005603625

NM_001374828.1(ARID1B):c.4825C>T (p.Gln1609Ter)

SNV
Germline

Chr6:157201050

Pathogenic/Likely pathogenic

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16618266

rs_1064793482

3 SubmittersRCV000478760 RCV003985791

NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter)

SNV
Germline/somatic

Chr6:157206971

Pathogenic/Likely pathogenic

Condition: not provided
Coffin-Siris syndrome 1
Medulloblastoma WNT activated

Criteria Provided
Multiple Submitters
No Conflicts

CA366247749

rs_1028186690

7 SubmittersRCV001548527 RCV000496177 RCV006254075

NM_001374828.1(ARID1B):c.927C>T (p.Ala309=)

SNV
Germline

Chr6:156778607

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Coffin-Siris syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA452989246

rs_1450163641

6 SubmittersRCV000503608 RCV000998729 RCV001807267 RCV002367682

NM_001374828.1(ARID1B):c.1238G>C (p.Gly413Ala)

SNV
Germline

Chr6:156778918

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Conflicting Classifications

CA4066724

rs_749315126

5 SubmittersRCV000502400 RCV001553321 RCV001807268

NM_001374828.1(ARID1B):c.1732C>T (p.Gln578Ter)

SNV
Germline

Chr6:156779412

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366385589

rs_1554248236

2 SubmittersRCV000501251 RCV005054201

NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter)

SNV
Germline

Chr6:157184315

Pathogenic

Coffin-Siris syndrome 1
Intellectual disability

Criteria Provided
Single Submitter

CA366230330

rs_1554231836

2 SubmittersRCV000500865 RCV001249528

NM_001374828.1(ARID1B):c.4267C>T (p.Gln1423Ter)

SNV
Germline

Chr6:157196200

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366238078

rs_1554234341

3 SubmittersRCV000500042

NM_001374828.1(ARID1B):c.4315G>A (p.Gly1439Arg)

SNV
Germline

Chr6:157196248

Conflicting classifications of pathogenicity

not specified
Coffin-Siris syndrome 1
Condition: not provided
Inborn genetic diseases
ARID1B-related disorder

Criteria Provided
Conflicting Classifications

CA4067588

rs_199674889

7 SubmittersRCV000501797 RCV001807269 RCV001815395 RCV002316432 RCV004535585

NM_001374828.1(ARID1B):c.4714G>A (p.Gly1572Ser)

SNV
Germline

Chr6:157200939

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4067690

rs_141461351

4 SubmittersRCV000500933 RCV002329190 RCV003139703 RCV003574779

NM_001374828.1(ARID1B):c.5240G>A (p.Arg1747Gln)

SNV
Germline

Chr6:157201465

Conflicting classifications of pathogenicity

not specified
Coffin-Siris syndrome 1

Criteria Provided
Conflicting Classifications

CA4067773

rs_762183842

2 SubmittersRCV000499492 RCV003139704

NM_001374828.1(ARID1B):c.2170C>T (p.Gln724Ter)

SNV
Germline

Chr6:156935499

Likely pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA366380407

rs_1554270809

2 SubmittersRCV000505250 RCV000512856

NM_001374828.1(ARID1B):c.3714+2T>G

SNV
Germline

Chr6:157181180

Pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA366228589

rs_1404726383

1 SubmittersRCV000505225

NM_001374828.1(ARID1B):c.6895C>T (p.Gln2299Ter)

SNV
Germline

Chr6:157207667

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA366249299

rs_758120346

2 SubmittersRCV000505205 RCV003128948

NM_001374828.1(ARID1B):c.3714+1G>A

SNV
Germline/somatic

Chr6:157181179

Pathogenic

Medulloblastoma
Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366228581

rs_1554231278

2 SubmittersRCV000505583 RCV001775127

NM_001374828.1(ARID1B):c.901C>G (p.Pro301Ala)

SNV
Germline

Chr6:156778581

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Coffin-Siris syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA150802743

rs_1044746171

6 SubmittersRCV000513831 RCV002367708 RCV005398731 RCV005434986

NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala)

SNV
Germline

Chr6:156778909

Conflicting classifications of pathogenicity

Condition: not provided
Coffin-Siris syndrome 1
Inborn genetic diseases
ARID1B-related disorder

Criteria Provided
Conflicting Classifications

CA366383630

rs_1455234951

6 SubmittersRCV000522517 RCV000765880 RCV002316478 RCV004537880

NM_001374828.1(ARID1B):c.2572C>T (p.Gln858Ter)

SNV
Germline

Chr6:157110552

Pathogenic

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366386733

rs_1554298232

3 SubmittersRCV000519622 RCV001775129

NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter)

SNV
Germline

Chr6:157207523

Pathogenic

Condition: not provided
Coffin-Siris syndrome 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA366248978

rs_1554238072

14 SubmittersRCV000523285 RCV000995695 RCV002314905

NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter)

SNV
Germline

Chr6:157196311

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA366238872

rs_773740590

7 SubmittersRCV000578297 RCV000578964 RCV000624544

NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)

SNV
Germline

Chr6:157206917

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Coffin-Siris syndrome 1
ARID1B-related BAFopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA366247636

rs_1554237658

14 SubmittersRCV000578816 RCV000622953 RCV000625417 RCV001533032

NM_001374828.1(ARID1B):c.4459G>A (p.Gly1487Ser)

SNV
Germline

Chr6:157198887

Conflicting classifications of pathogenicity

Condition: not provided
Coffin-Siris syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4067629

rs_151115781

5 SubmittersRCV000585064 RCV001807297 RCV002315880

NM_001374828.1(ARID1B):c.2581+5G>A

SNV
Germline

Chr6:157110566

Conflicting classifications of pathogenicity

Condition: not provided
See cases
Coffin-Siris syndrome 1
ARID1B-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA645556457

rs_1554298239

6 SubmittersRCV000599173 RCV001420229 RCV001807301 RCV004530730 RCV004024880

NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter)

SNV
Germline/somatic

Chr6:157201464

Pathogenic

Condition: not provided
Coffin-Siris syndrome 1
ARID1B-related BAFopathy
Inborn genetic diseases
Cervical cancer
Squamous cell carcinoma of the head and neck
Medulloblastoma WNT activated

Criteria Provided
Multiple Submitters
No Conflicts

CA366243193

rs_1554236040

16 SubmittersRCV000599263 RCV000677116 RCV001533026 RCV004024877 RCV005898750 RCV005898749 RCV006254111

NM_001374828.1(ARID1B):c.1867C>T (p.Gln623Ter)

SNV
Germline

Chr6:156829302

Pathogenic

Inborn genetic diseases
Coffin-Siris syndrome 1
ARID1B-related BAFopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA366384047

rs_1554256703

3 SubmittersRCV000624037 RCV000679918 RCV001533085

NM_001374828.1(ARID1B):c.1987-29738G>T

SNV
Germline

Chr6:156871638

Pathogenic

Inborn genetic diseases
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA4066877

rs_201653711

2 SubmittersRCV000623614 RCV000763142

NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter)

SNV
Germline

Chr6:157207463

Pathogenic

Inborn genetic diseases
ARID1B-related BAFopathy
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366248842

rs_1554238035

3 SubmittersRCV000624474 RCV001533061 RCV001807308

NM_003107.3(SOX4):c.198C>A (p.Phe66Leu)

SNV
Germline

Chr6:21594732

Likely pathogenic

Mild intellectual disability
Coffin-Siris syndrome 10
Developmental delay
Mild facial and digital morphological abnormalities
Intellectual disability

Criteria Provided
Single Submitter

CA363269640

rs_1334099693

3 SubmittersRCV000660880 RCV000787353 RCV001261716

NM_001374828.1(ARID1B):c.2038C>T (p.Gln680Ter)

SNV
Germline

Chr6:156901427

Pathogenic

Coffin-Siris syndrome 1
ARID1B-related BAFopathy

Criteria Provided
Single Submitter

CA366380713

rs_1554265271

1 SubmittersRCV000679919 RCV001533087

NM_001374828.1(ARID1B):c.3597C>G (p.Tyr1199Ter)

SNV
Germline

Chr6:157181061

Pathogenic

Coffin-Siris syndrome 1
ARID1B-related BAFopathy

Criteria Provided
Single Submitter

CA366227648

rs_1562328526

1 SubmittersRCV000679920 RCV001533117

NM_001374828.1(ARID1B):c.4106C>A (p.Ser1369Ter)

SNV
Germline

Chr6:157190085

Pathogenic

Coffin-Siris syndrome 1
ARID1B-related BAFopathy

Criteria Provided
Single Submitter

CA366235085

rs_772973856

1 SubmittersRCV000679922 RCV001533019

NM_001374828.1(ARID1B):c.4905G>A (p.Trp1635Ter)

SNV
Germline

Chr6:157201130

Pathogenic

Coffin-Siris syndrome 1
ARID1B-related BAFopathy

Criteria Provided
Single Submitter

CA366242069

rs_1554235834

1 SubmittersRCV000679923 RCV001533024

NM_001374828.1(ARID1B):c.4509C>G (p.Tyr1503Ter)

SNV
Germline

Chr6:157200734

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366240734

rs_377021700

1 SubmittersRCV000710059

NM_001374828.1(ARID1B):c.1439C>T (p.Ser480Leu)

SNV
Germline

Chr6:156779119

Conflicting classifications of pathogenicity

Condition: not provided
Coffin-Siris syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA366384393

rs_1235258455

5 SubmittersRCV001557395 RCV001807330 RCV002315410

NM_001374828.1(ARID1B):c.1720G>A (p.Ala574Thr)

SNV
Germline

Chr6:156779400

Conflicting classifications of pathogenicity

Coffin-Siris syndrome 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366385540

rs_1296293849

4 SubmittersRCV002493283 RCV002316761 RCV002533040

NM_001374828.1(ARID1B):c.1337C>T (p.Ala446Val)

SNV
Germline

Chr6:156779017

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Coffin-Siris syndrome 1
ARID1B-related disorder

Criteria Provided
Conflicting Classifications

CA4066732

rs_748273011

7 SubmittersRCV001556601 RCV002313578 RCV003486924 RCV004737976

NM_001374828.1(ARID1B):c.4379G>A (p.Arg1460Gln)

SNV
Germline

Chr6:157196312

Conflicting classifications of pathogenicity

Inborn genetic diseases
Coffin-Siris syndrome 1
ARID1B-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4067605

rs_761133847

4 SubmittersRCV002316165 RCV003141720 RCV004535780 RCV005092072

NM_001374828.1(ARID1B):c.4609C>G (p.Pro1537Ala)

SNV
Germline

Chr6:157200834

Conflicting classifications of pathogenicity

Inborn genetic diseases
Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4067664

rs_140639463

3 SubmittersRCV002315299 RCV002499312 RCV003558544

NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter)

SNV
Germline

Chr6:157206623

Likely pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA366246990

rs_1451259945

1 SubmittersRCV000723328

NM_001374828.1(ARID1B):c.4794C>G (p.Tyr1598Ter)

SNV
Germline

Chr6:157201019

Pathogenic

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366241531

rs_1562345819

2 SubmittersRCV000734984 RCV002250688

NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter)

SNV
Germline

Chr6:157084701

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366387084

rs_1554294593

3 SubmittersRCV000760214

NM_001374828.1(ARID1B):c.5395-2A>C

SNV
Germline

Chr6:157206165

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366245418

rs_1562350940

1 SubmittersRCV000760273

NM_001374828.1(ARID1B):c.3904C>T (p.Gln1302Ter)

SNV
Germline

Chr6:157184420

Pathogenic

Condition: not provided
Coffin-Siris syndrome
Coffin-Siris syndrome 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA366230809

rs_1554231904

5 SubmittersRCV000760515 RCV003313141 RCV001807343 RCV004659196

NM_001374828.1(ARID1B):c.3236-1G>A

SNV
Germline

Chr6:157174007

Conflicting classifications of pathogenicity

Condition: not provided
ARID1B-related disorder
Coffin-Siris syndrome 1

Criteria Provided
Conflicting Classifications

CA4067258

rs_752642190

6 SubmittersRCV000782226 RCV004535914 RCV005870860

NM_003107.3(SOX4):c.334G>C (p.Ala112Pro)

SNV
Germline

Chr6:21594868

Pathogenic/Likely pathogenic

Coffin-Siris syndrome 10
Intellectual disability
Developmental delay
Mild facial and digital morphological abnormalities

No Assertion Criteria Provided

CA363270097

rs_1464282327

2 SubmittersRCV000787354 RCV001261717

NM_003107.3(SOX4):c.176T>G (p.Ile59Ser)

SNV
Germline

Chr6:21594710

Pathogenic/Likely pathogenic

Coffin-Siris syndrome 10
Intellectual disability
Developmental delay
Mild facial and digital morphological abnormalities

No Assertion Criteria Provided

CA363269590

rs_1582601669

2 SubmittersRCV000787355 RCV001261718

NM_003107.3(SOX4):c.315G>T (p.Lys105Asn)

SNV
Germline

Chr6:21594849

Pathogenic/Likely pathogenic

Coffin-Siris syndrome 10
Intellectual disability
Developmental delay
Mild facial and digital morphological abnormalities

No Assertion Criteria Provided

CA363270004

rs_1582601747

2 SubmittersRCV000787356 RCV001261719

NM_001374828.1(ARID1B):c.3770C>G (p.Ser1257Ter)

SNV
Unknown

Chr6:157184286

Likely pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA366230222

rs_1583469292

1 SubmittersRCV000788110

NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr)

SNV
Germline

Chr6:157207035

Likely pathogenic

Marfanoid habitus and intellectual disability
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366247891

rs_1583516082

2 SubmittersRCV000850432 RCV002226742

NM_001374828.1(ARID1B):c.3937C>T (p.Gln1313Ter)

SNV
Germline

Chr6:157189659

Pathogenic

Coffin-Siris syndrome 1
ARID1B-related BAFopathy

Criteria Provided
Single Submitter

CA366234029

rs_1554232919

1 SubmittersRCV000850528 RCV001533120

NM_001374828.1(ARID1B):c.3345G>A (p.Lys1115=)

SNV
Germline

Chr6:157174117

Pathogenic/Likely pathogenic

Coffin-Siris syndrome 1
Condition: not provided
Coffin-Siris syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA452779887

rs_1583451360

3 SubmittersRCV000856774 RCV003233868 RCV006449374

NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter)

SNV
Germline

Chr6:157196232

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366238339

rs_1583491515

2 SubmittersRCV000987809

NM_001374828.1(ARID1B):c.1870C>T (p.Gln624Ter)

SNV
Germline

Chr6:156829305

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366384068

rs_754167205

1 SubmittersRCV000995694

NM_003076.5(SMARCD1):c.990C>G (p.Asp330Glu)

SNV
Germline

Chr12:50090357

Pathogenic

Coffin-Siris syndrome 11

No Assertion Criteria Provided

CA384792124

rs_1592289150

1 SubmittersRCV001003485

NM_003076.5(SMARCD1):c.1336A>G (p.Arg446Gly)

SNV
Germline

Chr12:50096916

Pathogenic

Coffin-Siris syndrome 11

No Assertion Criteria Provided

CA384795236

rs_1592294569

1 SubmittersRCV001003486

NM_003076.5(SMARCD1):c.1457G>A (p.Trp486Ter)

SNV
Germline

Chr12:50098778

Pathogenic

Coffin-Siris syndrome 11

No Assertion Criteria Provided

CA384797045

rs_1592295890

1 SubmittersRCV001003487

NM_003076.5(SMARCD1):c.1483T>C (p.Phe495Leu)

SNV
Germline

Chr12:50098804

Pathogenic

Coffin-Siris syndrome 11

No Assertion Criteria Provided

CA384797193

rs_1592295914

1 SubmittersRCV001003488

NM_003076.5(SMARCD1):c.1507C>T (p.Arg503Ter)

SNV
Germline

Chr12:50098959

Pathogenic

Coffin-Siris syndrome 11
Condition: not provided

Criteria Provided
Single Submitter

CA384797402

rs_372368908

2 SubmittersRCV001003489 RCV001564444

NM_001374828.1(ARID1B):c.5774G>A (p.Arg1925Gln)

SNV
Germline

Chr6:157206546

Conflicting classifications of pathogenicity

Microcephaly
Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4067897

rs_751043203

3 SubmittersRCV001252730 RCV002479199 RCV005093042

NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter)

SNV
Germline

Chr6:156901496

Pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA366380893

rs_1554265316

1 SubmittersRCV001028057

NM_001374828.1(ARID1B):c.3946C>T (p.Gln1316Ter)

SNV
Germline

Chr6:157189668

Pathogenic

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366234048

rs_1554232925

2 SubmittersRCV001049055 RCV002272397

NM_001374828.1(ARID1B):c.3266C>T (p.Pro1089Leu)

SNV
Germline

Chr6:157174038

Conflicting classifications of pathogenicity

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Conflicting Classifications

CA4067264

rs_540277176

3 SubmittersRCV001090775 RCV005232122

NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter)

SNV
Germline

Chr6:157200782

Likely pathogenic

Coffin-Siris syndrome
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366240921

rs_1794042593

2 SubmittersRCV001195289 RCV003225960

NM_001374828.1(ARID1B):c.1987-10T>G

SNV
Germline

Chr6:156901366

Conflicting classifications of pathogenicity

Coffin-Siris syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA571907258

rs_1276255111

2 SubmittersRCV001197541 RCV003490108

NM_001374828.1(ARID1B):c.4479+1G>T

SNV
Germline

Chr6:157198908

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366239931

rs_1554235041

2 SubmittersRCV001197917

NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr)

SNV
Germline

Chr6:157133061

Conflicting classifications of pathogenicity

Condition: not provided
Coffin-Siris syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4067105

rs_761093701

6 SubmittersRCV001200524 RCV001807390 RCV002447043

NM_001374828.1(ARID1B):c.3277A>T (p.Lys1093Ter)

SNV
Germline

Chr6:157174049

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366224419

rs_902091666

1 SubmittersRCV001249188

NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter)

SNV
Germline

Chr6:157206407

Pathogenic/Likely pathogenic

Coffin-Siris syndrome
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366246283

rs_1794456297

2 SubmittersRCV001249783 RCV003225962

NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro)

SNV
Germline

Chr6:157207389

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366248674

rs_1794550318

1 SubmittersRCV001250800

NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter)

SNV
Germline

Chr6:156779469

Pathogenic/Likely pathogenic

Intellectual disability
Inborn genetic diseases
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366385799

rs_1779032666

3 SubmittersRCV001255334 RCV001267290 RCV001253257

NM_001374828.1(ARID1B):c.5394+3A>C

SNV
Unknown

Chr6:157203999

Likely pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA1139659335

rs_1794283740

1 SubmittersRCV001261230

NM_001374828.1(ARID1B):c.5826G>A (p.Trp1942Ter)

SNV
Germline

Chr6:157206598

Pathogenic

Condition: not provided
Coffin-Siris syndrome 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA366246935

rs_1554237335

3 SubmittersRCV001268743 RCV002464433 RCV004960667

NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter)

SNV
Germline

Chr6:157196275

Likely pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA366238647

rs_1554234402

1 SubmittersRCV001283817

NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter)

SNV
Germline

Chr6:157133192

Pathogenic

Autism spectrum disorder
Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366388555

rs_1554301257

2 SubmittersRCV001291272 RCV004594267

NM_001374828.1(ARID1B):c.6410G>A (p.Trp2137Ter)

SNV
Germline

Chr6:157207182

Pathogenic

Condition: not provided
Coffin-Siris syndrome 1
ARID1B-related BAFopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA366248218

rs_1554237850

3 SubmittersRCV001291576 RCV001332344 RCV001533034

NM_001374828.1(ARID1B):c.7052C>G (p.Ser2351Ter)

SNV
Germline

Chr6:157207824

Pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA366249647

rs_1794583960

1 SubmittersRCV001293711

NM_001374828.1(ARID1B):c.1114G>A (p.Gly372Arg)

SNV
Germline

Chr6:156778794

Conflicting classifications of pathogenicity

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366383113

rs_926297805

2 SubmittersRCV001332345 RCV003558812

NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val)

SNV
Germline

Chr6:156779059

Conflicting classifications of pathogenicity

Coffin-Siris syndrome 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA366384179

rs_1274183370

5 SubmittersRCV001331136 RCV001587349 RCV002546448

NM_001374828.1(ARID1B):c.5912C>T (p.Pro1971Leu)

SNV
Germline

Chr6:157206684

Conflicting classifications of pathogenicity

Coffin-Siris syndrome 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA150378481

rs_962264300

3 SubmittersRCV001332343 RCV002546551 RCV004960794

NM_001374828.1(ARID1B):c.1876A>G (p.Ser626Gly)

SNV
Germline

Chr6:156829311

Conflicting classifications of pathogenicity

Coffin-Siris syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA366384108

rs_1214970789

2 SubmittersRCV001336507 RCV003284214

NM_001374828.1(ARID1B):c.6172G>A (p.Ala2058Thr)

SNV
Germline

Chr6:157206944

Conflicting classifications of pathogenicity

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4067967

rs_772464386

3 SubmittersRCV001334087 RCV003433118

NM_001394372.1(BICRA):c.1993C>T (p.Gln665Ter)

SNV
Germline

Chr19:47681163

Pathogenic

Coffin-Siris syndrome 12

No Assertion Criteria Provided

CA406616603

rs_1229548274

1 SubmittersRCV001431523

NM_001394372.1(BICRA):c.192G>C (p.Glu64Asp)

SNV
Germline

Chr19:47679362

Pathogenic

Coffin-Siris syndrome 12

No Assertion Criteria Provided

CA406607939

rs_2123584339

1 SubmittersRCV001431529

NM_001374828.1(ARID1B):c.3345G>C (p.Lys1115Asn)

SNV
Germline

Chr6:157174117

Pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA366224666

rs_1583451360

1 SubmittersRCV001527606

NM_001374828.1(ARID1B):c.3585G>A (p.Trp1195Ter)

SNV
Germline

Chr6:157181049

Pathogenic

ARID1B-related BAFopathy
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366227554

rs_1554231205

2 SubmittersRCV001533115 RCV005432746

NM_001374828.1(ARID1B):c.4150C>T (p.Gln1384Ter)

SNV
Germline

Chr6:157190129

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366235333

rs_1182325800

3 SubmittersRCV001542338 RCV006275095

NM_001374828.1(ARID1B):c.5896C>T (p.Arg1966Cys)

SNV
Germline

Chr6:157206668

Likely pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA366247100

rs_1369594791

1 SubmittersRCV001543360

NM_001374828.1(ARID1B):c.2773A>T (p.Arg925Ter)

SNV
Germline

Chr6:157148635

Pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA366388626

rs_1554226001

1 SubmittersRCV001822882

NM_003107.3(SOX4):c.1040C>A (p.Ser347Ter)

SNV
Germline

Chr6:21595574

Pathogenic/Likely pathogenic

Coffin-Siris syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA363271826

rs_2113558441

2 SubmittersRCV001598703

NM_001374828.1(ARID1B):c.1280C>T (p.Ala427Val)

SNV
Germline

Chr6:156778960

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Coffin-Siris syndrome 1
ARID1B-related disorder

Criteria Provided
Conflicting Classifications

CA4066731

rs_530780611

6 SubmittersRCV001684943 RCV002386500 RCV003136125 RCV004536250

NM_001374828.1(ARID1B):c.6344C>T (p.Pro2115Leu)

SNV
Germline

Chr6:157207116

Conflicting classifications of pathogenicity

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Conflicting Classifications

CA4067998

rs_368420323

4 SubmittersRCV001755080 RCV003136139

NM_001374828.1(ARID1B):c.4921C>T (p.Gln1641Ter)

SNV
Germline

Chr6:157201146

Pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA366242107

rs_1554235841

1 SubmittersRCV001771814

NM_001374828.1(ARID1B):c.1560C>G (p.Tyr520Ter)

SNV
Germline

Chr6:156779240

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366384892

rs_2114999746

4 SubmittersRCV001775282 RCV001843596

NM_001374828.1(ARID1B):c.5218C>T (p.Gln1740Ter)

SNV
Germline

Chr6:157201443

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366243111

rs_1554236027

3 SubmittersRCV001775449 RCV004728808

NM_001374828.1(ARID1B):c.5264-2A>G

SNV
Germline

Chr6:157203864

Pathogenic/Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366243712

rs_1794274425

2 SubmittersRCV001809077

NM_001374828.1(ARID1B):c.6236C>G (p.Ser2079Ter)

SNV
Unknown

Chr6:157207008

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366247831

rs_2128395778

1 SubmittersRCV001843736

NM_001374828.1(ARID1B):c.5263+1G>T

SNV
Germline

Chr6:157201489

Pathogenic

Condition: not provided
Coffin-Siris syndrome 1
Acute myeloid leukemia
Squamous cell lung carcinoma

Criteria Provided
Single Submitter

CA366243331

rs_2128377544

3 SubmittersRCV001848638 RCV002246549 RCV005922798 RCV005922797

NM_001374828.1(ARID1B):c.869C>A (p.Ala290Asp)

SNV
Germline

Chr6:156778549

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Coffin-Siris syndrome 1
Coffin-Siris syndrome

Criteria Provided
Conflicting Classifications

CA150802741

rs_920305028

5 SubmittersRCV001919520 RCV002352591 RCV003136312 RCV005361835

NM_001374828.1(ARID1B):c.2762G>T (p.Gly921Val)

SNV
Germline

Chr6:157148624

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366388602

rs_2128633891

1 SubmittersRCV002074476

NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter)

SNV
Unknown

Chr6:156901414

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366380682

rs_773640553

1 SubmittersRCV002226564

NM_001374828.1(ARID1B):c.4552C>T (p.Gln1518Ter)

SNV
Germline

Chr6:157200777

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366240908

rs_1554235541

2 SubmittersRCV002226988 RCV003718450

NM_001374828.1(ARID1B):c.2248-2A>G

SNV
Germline

Chr6:157084660

Pathogenic/Likely pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366386943

rs_2128462015

2 SubmittersRCV002249270 RCV003679079

NM_001394372.1(BICRA):c.3248+1G>A

SNV
Germline

Chr19:47696513

Pathogenic

Coffin-Siris syndrome 12

Criteria Provided
Single Submitter

CA406622082

rs_1490477251

1 SubmittersRCV002249297

NM_003107.3(SOX4):c.975C>G (p.Tyr325Ter)

SNV
Germline

Chr6:21595509

Pathogenic

Coffin-Siris syndrome 10

Criteria Provided
Single Submitter

CA363271693

rs_1305965061

1 SubmittersRCV002246736

NM_001374828.1(ARID1B):c.4522A>T (p.Lys1508Ter)

SNV
Germline

Chr6:157200747

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366240795

rs_1554235505

1 SubmittersRCV002272912

NM_001394372.1(BICRA):c.3529C>T (p.Arg1177Ter)

SNV
Unknown

Chr19:47699339

Likely pathogenic

Coffin-Siris syndrome 12

Criteria Provided
Single Submitter

CA406607631

rs_1375723922

1 SubmittersRCV002274300

NM_001374828.1(ARID1B):c.5395-1G>A

SNV
Germline

Chr6:157206166

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366245427

rs_2538754639

1 SubmittersRCV002283887

NM_001374828.1(ARID1B):c.5047C>T (p.Gln1683Ter)

SNV
Germline

Chr6:157201272

Pathogenic/Likely pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366242378

rs_1554235916

3 SubmittersRCV002290255 RCV003120883

NM_001374828.1(ARID1B):c.5570A>G (p.Asp1857Gly)

SNV
Germline

Chr6:157206342

Conflicting classifications of pathogenicity

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Conflicting Classifications

CA366245893

rs_2538758120

2 SubmittersRCV002301868 RCV004720363

NM_001374828.1(ARID1B):c.2851C>T (p.Gln951Ter)

SNV
Germline

Chr6:157148713

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366388796

rs_1168117828

1 SubmittersRCV002302432

NM_001374828.1(ARID1B):c.1842G>A (p.Met614Ile)

SNV
Germline

Chr6:156829277

Conflicting classifications of pathogenicity

Inborn genetic diseases
Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA150808636

rs_1048427417

3 SubmittersRCV002398490 RCV003138248 RCV003565553

NM_001394372.1(BICRA):c.1921C>T (p.Gln641Ter)

SNV
Germline

Chr19:47681091

Pathogenic

Coffin-Siris syndrome 12

Criteria Provided
Single Submitter

CA406616376

rs_2514111647

1 SubmittersRCV002463409

NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val)

SNV
Germline

Chr6:157084894

Conflicting classifications of pathogenicity

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366387475

rs_2128463445

3 SubmittersRCV002465421 RCV005639425

NM_001374828.1(ARID1B):c.3589G>A (p.Asp1197Asn)

SNV
Germline

Chr6:157181053

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA4067350

rs_761227259

1 SubmittersRCV002465428

NM_001374828.1(ARID1B):c.6224T>G (p.Val2075Gly)

SNV
Germline

Chr6:157206996

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366247805

rs_2128395673

1 SubmittersRCV002470630

NM_001374828.1(ARID1B):c.4526G>T (p.Arg1509Leu)

SNV
Germline

Chr6:157200751

Conflicting classifications of pathogenicity

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Conflicting Classifications

CA366240822

rs_1049209609

2 SubmittersRCV002638233 RCV003140141

NM_001374828.1(ARID1B):c.2918G>T (p.Gly973Val)

SNV
Germline

Chr6:157148780

Conflicting classifications of pathogenicity

Condition: not provided
Coffin-Siris syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4067164

rs_771600870

3 SubmittersRCV003118298 RCV003140246 RCV004961177

NM_001374828.1(ARID1B):c.395C>T (p.Ser132Phe)

SNV
Germline

Chr6:156778075

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Conflicting Classifications

CA4066616

rs_375486386

3 SubmittersRCV002775737 RCV002800389 RCV005034417

NM_001374828.1(ARID1B):c.4795C>T (p.Gln1599Ter)

SNV
Germline

Chr6:157201020

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366241538

rs_2538678370

2 SubmittersRCV005869950 RCV002957709

NM_001374828.1(ARID1B):c.4957C>T (p.Gln1653Ter)

SNV
Germline

Chr6:157201182

Pathogenic/Likely pathogenic

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366242188

rs_2128375131

2 SubmittersRCV003029797 RCV005415652

NM_001374828.1(ARID1B):c.5807A>G (p.Asn1936Ser)

SNV
Germline

Chr6:157206579

Conflicting classifications of pathogenicity

Inborn genetic diseases
Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4067903

rs_139181534

3 SubmittersRCV002830474 RCV003487050 RCV003561102

NM_001374828.1(ARID1B):c.4232-1G>A

SNV
Germline

Chr6:157196164

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366237824

rs_2128355925

1 SubmittersRCV003140494

NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter)

SNV
Germline

Chr6:157207179

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366248209

rs_2538782467

1 SubmittersRCV003140573

NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter)

SNV
Germline

Chr6:157200782

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366240920

rs_1794042593

1 SubmittersRCV003134975

NM_001374828.1(ARID1B):c.2345A>G (p.Gln782Arg)

SNV
Germline

Chr6:157084759

Conflicting classifications of pathogenicity

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4067022

rs_368202669

2 SubmittersRCV003141523 RCV003542472

NM_001374828.1(ARID1B):c.765C>A (p.Asp255Glu)

SNV
Germline

Chr6:156778445

Conflicting classifications of pathogenicity

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366382058

rs_1171803835

2 SubmittersRCV003141526 RCV005099366

NM_001374828.1(ARID1B):c.662A>G (p.Asn221Ser)

SNV
Germline

Chr6:156778342

Conflicting classifications of pathogenicity

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4066678

rs_561130072

3 SubmittersRCV003141531 RCV005642941

NM_001394372.1(BICRA):c.1933C>T (p.Gln645Ter)

SNV
Unknown

Chr19:47681103

Likely pathogenic

Coffin-Siris syndrome 12

Criteria Provided
Single Submitter

CA406616418

rs_2514111692

1 SubmittersRCV003147923

NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter)

SNV
Unknown

Chr6:157148774

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366388922

rs_2128634414

1 SubmittersRCV003148239

NM_001374828.1(ARID1B):c.1648C>T (p.Gln550Ter)

SNV
Germline

Chr6:156779328

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366385251

rs_1779009539

1 SubmittersRCV003149146

NM_003107.3(SOX4):c.1333G>T (p.Glu445Ter)

SNV
Germline

Chr6:21595867

Pathogenic

Coffin-Siris syndrome 10
Condition: not provided

Criteria Provided
Single Submitter

CA363272424

rs_2532642024

2 SubmittersRCV003152402 RCV004721158

NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter)

SNV
Unknown

Chr6:157207391

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366248678

rs_1554237988

1 SubmittersRCV003153005

NM_001374828.1(ARID1B):c.2491G>C (p.Gly831Arg)

SNV
Germline

Chr6:157084905

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366387497

rs_2128463505

1 SubmittersRCV003225658

NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)

SNV
Germline

Chr6:157201029

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366241596

rs_1380267781

1 SubmittersRCV003226094

NM_001374828.1(ARID1B):c.6218A>G (p.Asn2073Ser)

SNV
Germline

Chr6:157206990

Conflicting classifications of pathogenicity

Coffin-Siris syndrome 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4067972

rs_762587131

3 SubmittersRCV003233250 RCV004285649 RCV005102470

NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter)

SNV
Unknown

Chr6:157184237

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366229929

rs_1554231792

1 SubmittersRCV003314269

NM_001374828.1(ARID1B):c.3813C>G (p.Tyr1271Ter)

SNV
Unknown

Chr6:157184329

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366230393

rs_2128325330

1 SubmittersRCV003314319

NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter)

SNV
Germline

Chr6:157200863

Pathogenic/Likely pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366241101

rs_2128373069

2 SubmittersRCV003314378 RCV005102865

NM_003107.3(SOX4):c.281G>A (p.Gly94Asp)

SNV
Germline

Chr6:21594815

Likely pathogenic

Coffin-Siris syndrome 10

Criteria Provided
Single Submitter

CA363269850

rs_2532639300

1 SubmittersRCV003329106

NM_001374828.1(ARID1B):c.421G>A (p.Ala141Thr)

SNV
Germline

Chr6:156778101

Conflicting classifications of pathogenicity

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Conflicting Classifications

CA4066621

rs_772615576

2 SubmittersRCV003432126 RCV003487070

NM_001374828.1(ARID1B):c.5825G>A (p.Trp1942Ter)

SNV
Germline

Chr6:157206597

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366246934

rs_1554237332

1 SubmittersRCV003444039

NM_001374828.1(ARID1B):c.3061C>T (p.Gln1021Ter)

SNV
Germline

Chr6:157148923

Pathogenic/Likely pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366389253

rs_1554226145

3 SubmittersRCV003444085 RCV004775402

NM_001374828.1(ARID1B):c.3235+2T>A

SNV
Germline

Chr6:157167187

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366389651

rs_1583439013

1 SubmittersRCV003456355

NM_001374828.1(ARID1B):c.5926G>A (p.Ala1976Thr)

SNV
Germline

Chr6:157206698

Conflicting classifications of pathogenicity

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4067923

rs_183921218

2 SubmittersRCV003487078 RCV005100312

NM_001394372.1(BICRA):c.3300C>A (p.Tyr1100Ter)

SNV
Germline

Chr19:47698685

Pathogenic

Coffin-Siris syndrome 12

Criteria Provided
Single Submitter

CA406622517

rs_1973387849

1 SubmittersRCV003493344

NM_001374828.1(ARID1B):c.4692C>A (p.His1564Gln)

SNV
Germline

Chr6:157200917

Conflicting classifications of pathogenicity

Condition: not provided
Coffin-Siris syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA366241224

rs_917868982

3 SubmittersRCV003562658 RCV005036894 RCV005475409

NM_001374828.1(ARID1B):c.1021C>T (p.Gln341Ter)

SNV
Germline

Chr6:156778701

Pathogenic

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA366382827

rs_1778885211

2 SubmittersRCV003687588 RCV005230547

NM_001374828.1(ARID1B):c.6880C>T (p.Gln2294Ter)

SNV
Germline

Chr6:157207652

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366249263

rs_1554238124

2 SubmittersRCV003983782 RCV005363319

NM_001374828.1(ARID1B):c.951T>G (p.Tyr317Ter)

SNV
Germline

Chr6:156778631

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

CA366382562

rs_2546829263

1 SubmittersRCV003990206

NM_001374828.1(ARID1B):c.7052C>A (p.Ser2351Ter)

SNV
Germline

Chr6:157207824

Likely pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

CA366249646

rs_1794583960

1 SubmittersRCV004556168

NM_003107.3(SOX4):c.335C>A (p.Ala112Glu)

SNV
Germline

Chr6:21594869

Likely pathogenic

Coffin-Siris syndrome 10

Criteria Provided
Single Submitter

rs_2532639461

1 SubmittersRCV004594835

NM_001374828.1(ARID1B):c.1729C>T (p.Gln577Ter)

SNV
Germline

Chr6:156779409

Pathogenic

Coffin-Siris syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2546846179

2 SubmittersRCV004594889 RCV006564997

NM_001374828.1(ARID1B):c.6533G>A (p.Trp2178Ter)

SNV
Germline

Chr6:157207305

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004596707

NM_001374828.1(ARID1B):c.1651C>T (p.Gln551Ter)

SNV
Germline

Chr6:156779331

Pathogenic

Condition: not provided
Coffin-Siris syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004721850 RCV006254413

NM_001374828.1(ARID1B):c.1718G>A (p.Trp573Ter)

SNV
Germline

Chr6:156779398

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004776338

NM_001394372.1(BICRA):c.3631C>G (p.Pro1211Ala)

SNV
Germline

Chr19:47701363

Conflicting classifications of pathogenicity

Coffin-Siris syndrome 12
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004785000 RCV005256990

NM_001374828.1(ARID1B):c.4479+2T>C

SNV
Germline

Chr6:157198909

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004785162

NM_001394372.1(BICRA):c.2018G>C (p.Ser673Thr)

SNV
Germline

Chr19:47681188

Likely pathogenic

Coffin-Siris syndrome 12

Criteria Provided
Single Submitter

1 SubmittersRCV004785232

NM_001374828.1(ARID1B):c.4726C>T (p.Gln1576Ter)

SNV
Germline

Chr6:157200951

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004799134

NM_001374828.1(ARID1B):c.3704G>C (p.Gly1235Ala)

SNV
Germline

Chr6:157181168

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004808513

NM_003107.3(SOX4):c.200T>C (p.Met67Thr)

SNV
Germline

Chr6:21594734

Likely pathogenic

Coffin-Siris syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV004819983

NM_001374828.1(ARID1B):c.3341C>G (p.Ser1114Ter)

SNV
Germline

Chr6:157174113

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004823273

NM_001330288.2(SMARCC2):c.2549-2A>G

SNV
Germline

Chr12:56169697

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005055432

NM_003107.3(SOX4):c.185C>T (p.Pro62Leu)

SNV
Germline

Chr6:21594719

Likely pathogenic

Coffin-Siris syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV005087579

NM_003076.5(SMARCD1):c.1271T>C (p.Ile424Thr)

SNV
Germline

Chr12:50096851

Likely pathogenic

Coffin-Siris syndrome 11

Criteria Provided
Single Submitter

1 SubmittersRCV005233466

NM_003107.3(SOX4):c.185C>G (p.Pro62Arg)

SNV
Germline

Chr6:21594719

Likely pathogenic

Coffin-Siris syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV005638220

NM_001374828.1(ARID1B):c.4763G>A (p.Trp1588Ter)

SNV
Germline

Chr6:157200988

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005255225

NM_001374828.1(ARID1B):c.2247+1G>C

SNV
Germline

Chr6:156935577

Pathogenic

Coffin-Siris syndrome 1

No Assertion Criteria Provided

1 SubmittersRCV005865108

NM_001374828.1(ARID1B):c.5317G>T (p.Glu1773Ter)

SNV
Germline

Chr6:157203919

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005416018

NM_003107.3(SOX4):c.1274C>A (p.Ser425Ter)

SNV
Germline

Chr6:21595808

Pathogenic

Coffin-Siris syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV005625071

NM_001374828.1(ARID1B):c.4730C>A (p.Ser1577Ter)

SNV
Germline

Chr6:157200955

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005860781

NM_003108.4(SOX11):c.187G>C (p.Glu63Gln)

SNV
Unknown

Chr2:5692908

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005861997

NM_003107.3(SOX4):c.251T>G (p.Met84Arg)

SNV
Unknown

Chr6:21594785

Likely pathogenic

Coffin-Siris syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV005861999

NM_001374828.1(ARID1B):c.2491+1G>A

SNV
Germline

Chr6:157084906

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005882622

NM_001394372.1(BICRA):c.2104C>T (p.Gln702Ter)

SNV
Germline

Chr19:47681274

Likely pathogenic

Coffin-Siris syndrome 12

Criteria Provided
Single Submitter

1 SubmittersRCV005885834

NM_001374828.1(ARID1B):c.1791+1G>A

SNV
Germline

Chr6:156779472

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005880911

NM_001374828.1(ARID1B):c.2335C>T (p.Gln779Ter)

SNV
Germline

Chr6:157084749

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV006258238

NM_001374828.1(ARID1B):c.4633C>T (p.Gln1545Ter)

SNV
Germline

Chr6:157200858

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV006258239

NM_001374828.1(ARID1B):c.2581+1G>T

SNV
Germline

Chr6:157110562

Likely pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV006454986

NM_001374828.1(ARID1B):c.3584G>A (p.Trp1195Ter)

SNV
Germline

Chr6:157181048

Pathogenic

Coffin-Siris syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV006455033