ClinVar for MedGen (Select 482831) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24443101.	NM_001374828.1(ARID1B):c.1853dup (p.His619fs) GRCh37: Chr6:157150419-157150420 GRCh38: Chr6:156829285-156829286	ARID1B	H619fs	Coffin-Siris syndrome 1	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24442682.	NM_001374828.1(ARID1B):c.5719_5722del (p.Phe1907fs) GRCh37: Chr6:157527624-157527627 GRCh38: Chr6:157206490-157206493	ARID1B	F1074fs, F1854fs, F1867fs, F1907fs	Coffin-Siris syndrome 1	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24442073.	NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter) GRCh37: Chr6:157528525 GRCh38: Chr6:157207391	ARID1B	E1374, E2013, E2084, E2124, E2154, E2167, E2207*	Coffin-Siris syndrome 1	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24440914.	NM_001374828.1(ARID1B):c.3933del (p.Leu1312fs) GRCh37: Chr6:157510788 GRCh38: Chr6:157189654	ARID1B	L1259fs, L1272fs, L1312fs, L479fs	Coffin-Siris syndrome 1	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24423735.	NM_001374828.1(ARID1B):c.1648C>T (p.Gln550Ter) GRCh37: Chr6:157100462 GRCh38: Chr6:156779328	ARID1B	Q409, Q467, Q550*	Coffin-Siris syndrome 1	Pathogenic (Apr 28, 2021)	criteria provided, single submitter
Select item 24420886.	NM_001374828.1(ARID1B):c.6286del (p.Val2095_Leu2096insTer) GRCh37: Chr6:157528192 GRCh38: Chr6:157207058	ARID1B		Coffin-Siris syndrome 1	Likely pathogenic (Jan 20, 2021)	criteria provided, single submitter
Select item 24419247.	NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter) GRCh37: Chr6:157469908 GRCh38: Chr6:157148774	ARID1B	S138, S830, S888, S901, S971, S984	Coffin-Siris syndrome 1	Likely pathogenic (Jan 14, 2021)	criteria provided, single submitter
Select item 24391968.	NM_001374828.1(ARID1B):c.662A>G (p.Asn221Ser) GRCh37: Chr6:157099476 GRCh38: Chr6:156778342	LOC115308161, ARID1B	N138S, N221S, N80S	Coffin-Siris syndrome 1	Uncertain significance (Jan 23, 2020)	criteria provided, single submitter
Select item 24391959.	NM_001374828.1(ARID1B):c.5548G>C (p.Asp1850His) GRCh37: Chr6:157527454 GRCh38: Chr6:157206320	ARID1B	D1017H, D1656H, D1727H, D1767H, D1797H, D1810H, D1850H	Coffin-Siris syndrome 1	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 243919310.	NM_001374828.1(ARID1B):c.4711A>G (p.Met1571Val) GRCh37: Chr6:157522070 GRCh38: Chr6:157200936	ARID1B	M1377V, M1448V, M1488V, M1518V, M1531V, M1571V, M738V	Coffin-Siris syndrome 1	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 243919211.	NM_001374828.1(ARID1B):c.1825C>T (p.Pro609Ser) GRCh37: Chr6:157150394 GRCh38: Chr6:156829260	ARID1B	P468S, P526S, P609S	Coffin-Siris syndrome 1	Uncertain significance (Aug 2, 2021)	criteria provided, single submitter
Select item 243919112.	NM_001374828.1(ARID1B):c.765C>A (p.Asp255Glu) GRCh37: Chr6:157099579 GRCh38: Chr6:156778445	LOC115308161, ARID1B	D114E, D172E, D255E	Coffin-Siris syndrome 1	Uncertain significance (Mar 26, 2021)	criteria provided, single submitter
Select item 243919013.	NM_001374828.1(ARID1B):c.1312G>A (p.Gly438Ser) GRCh37: Chr6:157100126 GRCh38: Chr6:156778992	ARID1B	G297S, G355S, G438S	Coffin-Siris syndrome 1	Uncertain significance (Nov 7, 2021)	criteria provided, single submitter
Select item 243918914.	NM_001374828.1(ARID1B):c.1556G>A (p.Ser519Asn) GRCh37: Chr6:157100370 GRCh38: Chr6:156779236	ARID1B	S378N, S436N, S519N	Coffin-Siris syndrome 1	Uncertain significance (Apr 22, 2021)	criteria provided, single submitter
Select item 243918815.	NM_001374828.1(ARID1B):c.2345A>G (p.Gln782Arg) GRCh37: Chr6:157405893 GRCh38: Chr6:157084759	ARID1B	Q641R, Q699R, Q712R, Q782R, Q795R	Coffin-Siris syndrome 1	Uncertain significance (Aug 3, 2019)	criteria provided, single submitter
Select item 243918616.	NM_001374828.1(ARID1B):c.591GCA[12] (p.Gln214_His215insGlnGlnGlnGlnGln) GRCh37: Chr6:157099402-157099403 GRCh38: Chr6:156778268-156778269	ARID1B, LOC115308161		Coffin-Siris syndrome 1	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 243918517.	NM_001374828.1(ARID1B):c.5923T>C (p.Ser1975Pro) GRCh37: Chr6:157527829 GRCh38: Chr6:157206695	ARID1B	S1142P, S1781P, S1852P, S1892P, S1922P, S1935P, S1975P	Coffin-Siris syndrome 1	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 243918418.	NM_001374828.1(ARID1B):c.1598C>T (p.Pro533Leu) GRCh37: Chr6:157100412 GRCh38: Chr6:156779278	ARID1B	P392L, P450L, P533L	Coffin-Siris syndrome 1	Uncertain significance (Jan 19, 2021)	criteria provided, single submitter
Select item 243918319.	NM_001374828.1(ARID1B):c.6236C>T (p.Ser2079Leu) GRCh37: Chr6:157528142 GRCh38: Chr6:157207008	ARID1B	S1246L, S1885L, S1956L, S1996L, S2026L, S2039L, S2079L	Coffin-Siris syndrome 1	Uncertain significance (Nov 16, 2022)	criteria provided, single submitter
Select item 243918220.	NM_001374828.1(ARID1B):c.765C>G (p.Asp255Glu) GRCh37: Chr6:157099579 GRCh38: Chr6:156778445	LOC115308161, ARID1B	D114E, D172E, D255E	Coffin-Siris syndrome 1	Uncertain significance (Feb 17, 2021)	criteria provided, single submitter
Select item 243918121.	NM_001374828.1(ARID1B):c.6041A>G (p.Asp2014Gly) GRCh37: Chr6:157527947 GRCh38: Chr6:157206813	ARID1B	D1181G, D1820G, D1891G, D1931G, D1961G, D1974G, D2014G	Coffin-Siris syndrome 1	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 243917922.	NM_001374828.1(ARID1B):c.591GCA[11] (p.Gln214_His215insGlnGlnGlnGln) GRCh37: Chr6:157099402-157099403 GRCh38: Chr6:156778268-156778269	ARID1B, LOC115308161		Coffin-Siris syndrome 1	Uncertain significance (Apr 16, 2021)	criteria provided, single submitter
Select item 243917823.	NM_001374828.1(ARID1B):c.1213G>C (p.Gly405Arg) GRCh37: Chr6:157100027 GRCh38: Chr6:156778893	ARID1B	G264R, G322R, G405R	Coffin-Siris syndrome 1	Uncertain significance (Jun 11, 2021)	criteria provided, single submitter
Select item 243917724.	NM_001374828.1(ARID1B):c.1322A>G (p.Tyr441Cys) GRCh37: Chr6:157100136 GRCh38: Chr6:156779002	ARID1B	Y300C, Y358C, Y441C	Coffin-Siris syndrome 1	Uncertain significance (Sep 13, 2021)	criteria provided, single submitter
Select item 243917625.	NM_001374828.1(ARID1B):c.5926G>T (p.Ala1976Ser) GRCh37: Chr6:157527832 GRCh38: Chr6:157206698	ARID1B	A1143S, A1782S, A1853S, A1893S, A1923S, A1936S, A1976S	Coffin-Siris syndrome 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 243917526.	NM_001374828.1(ARID1B):c.*3T>C GRCh37: Chr6:157529028 GRCh38: Chr6:157207894	ARID1B		Coffin-Siris syndrome 1	Uncertain significance (Jan 17, 2019)	criteria provided, single submitter
Select item 243917427.	NM_001374828.1(ARID1B):c.1628_1642dup (p.Ala547_Gly548insAlaGlyAlaAlaAla) GRCh37: Chr6:157100430-157100431 GRCh38: Chr6:156779296-156779297	ARID1B		Coffin-Siris syndrome 1	Uncertain significance (Jul 30, 2021)	criteria provided, single submitter
Select item 243917328.	NM_001374828.1(ARID1B):c.1292C>T (p.Ala431Val) GRCh37: Chr6:157100106 GRCh38: Chr6:156778972	ARID1B	A290V, A348V, A431V	Coffin-Siris syndrome 1	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 243917229.	NM_001374828.1(ARID1B):c.932C>T (p.Pro311Leu) GRCh37: Chr6:157099746 GRCh38: Chr6:156778612	ARID1B	P170L, P228L, P311L	Coffin-Siris syndrome 1	Uncertain significance (Nov 29, 2021)	criteria provided, single submitter
Select item 243917130.	NM_001374828.1(ARID1B):c.1451G>T (p.Gly484Val) GRCh37: Chr6:157100265 GRCh38: Chr6:156779131	ARID1B	G343V, G401V, G484V	Coffin-Siris syndrome 1	Uncertain significance (Jun 3, 2021)	criteria provided, single submitter
Select item 243917031.	NM_001374828.1(ARID1B):c.1781G>T (p.Gly594Val) GRCh37: Chr6:157100595 GRCh38: Chr6:156779461	ARID1B	G453V, G511V, G594V	Coffin-Siris syndrome 1	Uncertain significance (Jan 30, 2020)	criteria provided, single submitter
Select item 243916932.	NM_001374828.1(ARID1B):c.2882G>A (p.Cys961Tyr) GRCh37: Chr6:157469878 GRCh38: Chr6:157148744	ARID1B	C128Y, C820Y, C878Y, C891Y, C961Y, C974Y	Coffin-Siris syndrome 1	Uncertain significance (Aug 3, 2019)	criteria provided, single submitter
Select item 243916833.	NM_001374828.1(ARID1B):c.6020G>A (p.Arg2007Gln) GRCh37: Chr6:157527926 GRCh38: Chr6:157206792	ARID1B	R1174Q, R1813Q, R1884Q, R1924Q, R1954Q, R1967Q, R2007Q	Coffin-Siris syndrome 1	Uncertain significance (Jul 25, 2019)	criteria provided, single submitter
Select item 243497834.	NM_001374828.1(ARID1B):c.612_613insGCAGCAG (p.Gln205fs) GRCh37: Chr6:157099426-157099427 GRCh38: Chr6:156778292-156778293	LOC115308161, ARID1B	Q205fs	Coffin-Siris syndrome 1	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 243495335.	NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter) GRCh37: Chr6:157521916 GRCh38: Chr6:157200782	ARID1B	Y1325, Y1396, Y1436, Y1466, Y1479, Y1519, Y686*	Coffin-Siris syndrome 1	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 243151936.	NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter) GRCh37: Chr6:157528313 GRCh38: Chr6:157207179	ARID1B	W1303, W1942, W2013, W2053, W2083, W2096, W2136*	Coffin-Siris syndrome 1	Likely pathogenic (Nov 25, 2022)	criteria provided, single submitter
Select item 243144037.	NM_001374828.1(ARID1B):c.4232-1G>A GRCh37: Chr6:157517298 GRCh38: Chr6:157196164	ARID1B		Coffin-Siris syndrome 1	Likely pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 241818938.	NM_001374828.1(ARID1B):c.2918G>T (p.Gly973Val) GRCh37: Chr6:157469914 GRCh38: Chr6:157148780	ARID1B	G140V, G832V, G890V, G903V, G973V, G986V	not provided, Coffin-Siris syndrome 1	Uncertain significance (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 224075039.	NM_001374828.1(ARID1B):c.292A>G (p.Ser98Gly) GRCh37: Chr6:157099106 GRCh38: Chr6:156777972	ARID1B, LOC115308161	S15G, S98G	Inborn genetic diseases, Coffin-Siris syndrome 1	Uncertain significance (Sep 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 220047840.	NM_001374828.1(ARID1B):c.4526G>T (p.Arg1509Leu) GRCh37: Chr6:157521885 GRCh38: Chr6:157200751	ARID1B	R1456L, R676L, R1386L, R1509L, R1315L, R1469L, R1426L	not provided, Coffin-Siris syndrome 1	Uncertain significance (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207454441.	NM_001374828.1(ARID1B):c.1631_1639del (p.Gly544_Ala546del) GRCh37: Chr6:157100437-157100445 GRCh38: Chr6:156779303-156779311	ARID1B		Coffin-Siris syndrome 1, not provided	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180634642.	NM_001374828.1(ARID1B):c.6224T>G (p.Val2075Gly) GRCh37: Chr6:157528130 GRCh38: Chr6:157206996	ARID1B	V1242G, V1881G, V1952G, V1992G, V2022G, V2035G, V2075G	Coffin-Siris syndrome 1	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 180580943.	NM_001374828.1(ARID1B):c.4510G>A (p.Gly1504Arg) GRCh37: Chr6:157521869 GRCh38: Chr6:157200735	ARID1B	G1310R, G1381R, G1421R, G1451R, G1464R, G1504R, G671R	Coffin-Siris syndrome 1	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 180563644.	NM_001374828.1(ARID1B):c.4395del (p.Pro1464_Tyr1465insTer) GRCh37: Chr6:157519957 GRCh38: Chr6:157198823	ARID1B		Coffin-Siris syndrome 1	Pathogenic (May 21, 2020)	criteria provided, single submitter
Select item 180542145.	NM_001374828.1(ARID1B):c.7030C>T (p.Arg2344Trp) GRCh37: Chr6:157528936 GRCh38: Chr6:157207802	ARID1B	R1511W, R2150W, R2221W, R2261W, R2291W, R2304W, R2344W	Coffin-Siris syndrome 1	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 180538846.	NM_001374828.1(ARID1B):c.3532del (p.Glu1178fs) GRCh37: Chr6:157502127 GRCh38: Chr6:157180993	ARID1B	E1125fs, E1138fs, E1178fs, E345fs	Coffin-Siris syndrome 1	Pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 180506547.	NM_001374828.1(ARID1B):c.4488del (p.Lys1496fs) GRCh37: Chr6:157521845 GRCh38: Chr6:157200711	ARID1B	K1443fs, K1456fs, K1496fs, K663fs	Coffin-Siris syndrome 1	Pathogenic (Jul 2, 2020)	criteria provided, single submitter
Select item 180497948.	NM_001374828.1(ARID1B):c.6529C>T (p.His2177Tyr) GRCh37: Chr6:157528435 GRCh38: Chr6:157207301	ARID1B	H1344Y, H1983Y, H2054Y, H2094Y, H2124Y, H2137Y, H2177Y	Coffin-Siris syndrome 1	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 180491549.	NM_001374828.1(ARID1B):c.4911dup (p.His1638fs) GRCh37: Chr6:157522269-157522270 GRCh38: Chr6:157201135-157201136	ARID1B	H1585fs, H1598fs, H1638fs, H805fs	Coffin-Siris syndrome 1	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 180318750.	NM_001374828.1(ARID1B):c.1293_1308del (p.Gly434fs) GRCh37: Chr6:157100101-157100116 GRCh38: Chr6:156778967-156778982	ARID1B	G434fs	Coffin-Siris syndrome 1	Pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 180302551.	NM_001374828.1(ARID1B):c.3261del (p.Met1087fs) GRCh37: Chr6:157495167 GRCh38: Chr6:157174033	ARID1B	M1087fs, M1100fs, M254fs	Coffin-Siris syndrome 1	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 180258952.	NM_001374828.1(ARID1B):c.3589G>A (p.Asp1197Asn) GRCh37: Chr6:157502187 GRCh38: Chr6:157181053	ARID1B	D1003N, D1074N, D1114N, D1144N, D1157N, D1197N, D364N	Coffin-Siris syndrome 1	Likely pathogenic (Nov 29, 2022)	criteria provided, single submitter
Select item 180258253.	NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val) GRCh37: Chr6:157406028 GRCh38: Chr6:157084894	ARID1B	A686V, A744V, A757V, A827V, A840V	Coffin-Siris syndrome 1	Likely pathogenic (Nov 29, 2022)	criteria provided, single submitter
Select item 177597354.	NM_001374828.1(ARID1B):c.1842G>A (p.Met614Ile) GRCh37: Chr6:157150411 GRCh38: Chr6:156829277	ARID1B	M614I, M531I, M473I	Coffin-Siris syndrome 1, Inborn genetic diseases	Conflicting interpretations of pathogenicity (May 20, 2021)	criteria provided, conflicting interpretations
Select item 177067655.	NM_001374828.1(ARID1B):c.1604A>C (p.Gln535Pro) GRCh37: Chr6:157100418 GRCh38: Chr6:156779284	ARID1B	Q535P, Q394P, Q452P	Coffin-Siris syndrome 1, Inborn genetic diseases	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173842156.	NM_001374828.1(ARID1B):c.4540A>G (p.Met1514Val) GRCh37: Chr6:157521899 GRCh38: Chr6:157200765	ARID1B	M1461V, M1391V, M1474V, M1514V, M681V, M1320V, M1431V	Coffin-Siris syndrome 1, Inborn genetic diseases, not provided	Uncertain significance (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172231857.	NM_001374828.1(ARID1B):c.2851C>T (p.Gln951Ter) GRCh37: Chr6:157469847 GRCh38: Chr6:157148713	ARID1B	Q118, Q810, Q868, Q881, Q951, Q964	Coffin-Siris syndrome 1	Pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 171319358.	NM_001374828.1(ARID1B):c.4738A>G (p.Ser1580Gly) GRCh37: Chr6:157522097 GRCh38: Chr6:157200963	ARID1B	S1386G, S1457G, S1497G, S1527G, S1540G, S1580G, S747G	Coffin-Siris syndrome 1	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 171035559.	NM_001374828.1(ARID1B):c.4968_4969del (p.Arg1657fs) GRCh37: Chr6:157522324-157522325 GRCh38: Chr6:157201190-157201191	ARID1B	R1604fs, R1617fs, R1657fs, R824fs	Coffin-Siris syndrome 1	Pathogenic (Aug 17, 2022)	criteria provided, single submitter
Select item 170991360.	NM_001374828.1(ARID1B):c.5047C>T (p.Gln1683Ter) GRCh37: Chr6:157522406 GRCh38: Chr6:157201272	ARID1B	Q1489, Q1560, Q1600, Q1630, Q1643, Q1683, Q850*	not provided, Coffin-Siris syndrome 1	Pathogenic/Likely pathogenic (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170935361.	NM_001374828.1(ARID1B):c.7046C>T (p.Ser2349Leu) GRCh37: Chr6:157528952 GRCh38: Chr6:157207818	ARID1B	S1516L, S2155L, S2226L, S2266L, S2296L, S2309L, S2349L	Coffin-Siris syndrome 1	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 170906462.	NM_001374828.1(ARID1B):c.2714del (p.Asn905fs) GRCh37: Chr6:157454293 GRCh38: Chr6:157133159	ARID1B	N72fs, N905fs, N918fs	Coffin-Siris syndrome 1	Likely pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 170659663.	NM_001374828.1(ARID1B):c.4770_4771dup (p.Arg1591fs) GRCh37: Chr6:157522127-157522128 GRCh38: Chr6:157200993-157200994	ARID1B	R1538fs, R1551fs, R1591fs, R758fs	Coffin-Siris syndrome 1	Likely pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 170653464.	NM_001374828.1(ARID1B):c.1462_1466del (p.Phe488fs) GRCh37: Chr6:157100273-157100277 GRCh38: Chr6:156779139-156779143	ARID1B	F488fs	Coffin-Siris syndrome 1	Likely pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 170560565.	NM_001374828.1(ARID1B):c.5399del (p.Ser1800fs) GRCh37: Chr6:157527305 GRCh38: Chr6:157206171	ARID1B	S1747fs, S1760fs, S1800fs, S967fs	Coffin-Siris syndrome 1	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170557366.	NM_001374828.1(ARID1B):c.5395-1G>A GRCh37: Chr6:157527300 GRCh38: Chr6:157206166	ARID1B		Coffin-Siris syndrome 1	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170532067.	NM_001374828.1(ARID1B):c.4647del (p.Tyr1550fs) GRCh37: Chr6:157522004 GRCh38: Chr6:157200870	ARID1B	Y1497fs, Y1510fs, Y1550fs, Y717fs	Coffin-Siris syndrome 1	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170376468.	NM_001374828.1(ARID1B):c.3154C>T (p.Pro1052Ser) GRCh37: Chr6:157488238 GRCh38: Chr6:157167104	ARID1B	P1052S, P1065S, P219S	Coffin-Siris syndrome 1	Uncertain significance (Feb 15, 2021)	criteria provided, single submitter
Select item 170368469.	GRCh37/hg19 6q25.3(chr6:157377242-157431665) GRCh37: Chr6:157377242-157431665	ARID1B		Coffin-Siris syndrome 1	Pathogenic	no assertion criteria provided
Select item 170368370.	GRCh37/hg19 6q25.3(chr6:157341357-157455697) GRCh37: Chr6:157341357-157455697	ARID1B		Coffin-Siris syndrome 1	Pathogenic	no assertion criteria provided
Select item 170172371.	NM_001374828.1(ARID1B):c.5602G>A (p.Glu1868Lys) GRCh37: Chr6:157527508 GRCh38: Chr6:157206374	ARID1B	E1035K, E1815K, E1828K, E1868K	Coffin-Siris syndrome 1	Uncertain significance (Sep 3, 2021)	criteria provided, single submitter
Select item 170166672.	NM_001374828.1(ARID1B):c.2069C>T (p.Pro690Leu) GRCh37: Chr6:157222592 GRCh38: Chr6:156901458	ARID1B	P690L, P703L	Coffin-Siris syndrome 1	Uncertain significance (Sep 10, 2021)	criteria provided, single submitter
Select item 169905573.	NM_001374828.1(ARID1B):c.4522A>T (p.Lys1508Ter) GRCh37: Chr6:157521881 GRCh38: Chr6:157200747	ARID1B	K1455, K1468, K1508, K675	Coffin-Siris syndrome 1	Pathogenic (Jun 24, 2022)	criteria provided, single submitter
Select item 169734674.	NM_001374828.1(ARID1B):c.3101del (p.Phe1034fs) GRCh37: Chr6:157488183 GRCh38: Chr6:157167049	ARID1B	F1034fs, F1047fs, F201fs	Coffin-Siris syndrome 1	Pathogenic (Feb 22, 2019)	no assertion criteria provided
Select item 169447575.	NM_001374828.1(ARID1B):c.6935del (p.Pro2312fs) GRCh37: Chr6:157528840 GRCh38: Chr6:157207706	ARID1B	P1479fs, P2259fs, P2272fs, P2312fs	Coffin-Siris syndrome 1	Pathogenic	criteria provided, single submitter
Select item 168731376.	NM_001374828.1(ARID1B):c.5615_5616dup (p.Glu1873fs) GRCh37: Chr6:157527519-157527520 GRCh38: Chr6:157206385-157206386	ARID1B	E1040fs, E1820fs, E1833fs, E1873fs	Coffin-Siris syndrome 1	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168716077.	NM_001374828.1(ARID1B):c.6873dup (p.Met2292fs) GRCh37: Chr6:157528778-157528779 GRCh38: Chr6:157207644-157207645	ARID1B	M1459fs, M2239fs, M2252fs, M2292fs	Coffin-Siris syndrome 1	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168710278.	NM_001374828.1(ARID1B):c.3827del (p.Glu1276fs) GRCh37: Chr6:157505477 GRCh38: Chr6:157184343	ARID1B	E1223fs, E1236fs, E1276fs, E443fs	Coffin-Siris syndrome 1	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 168554479.	NM_001374828.1(ARID1B):c.5365del (p.Ser1789fs) GRCh37: Chr6:157525101 GRCh38: Chr6:157203967	ARID1B	S1736fs, S1749fs, S1789fs, S956fs	Coffin-Siris syndrome 1	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168554380.	NM_001374828.1(ARID1B):c.2248-2A>G GRCh37: Chr6:157405794 GRCh38: Chr6:157084660	ARID1B		Coffin-Siris syndrome 1	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167974281.	NM_001374828.1(ARID1B):c.1051TCCGCC[1] (p.351SA[1]) GRCh37: Chr6:157099864-157099869 GRCh38: Chr6:156778730-156778735	ARID1B		Coffin-Siris syndrome 1	Uncertain significance (May 21, 2021)	criteria provided, single submitter
Select item 167964282.	NM_001374828.1(ARID1B):c.1942C>T (p.Arg648Trp) GRCh37: Chr6:157150511 GRCh38: Chr6:156829377	ARID1B	R648W	Coffin-Siris syndrome 1	Uncertain significance (May 14, 2021)	criteria provided, single submitter
Select item 167939183.	NM_001374828.1(ARID1B):c.4552C>T (p.Gln1518Ter) GRCh37: Chr6:157521911 GRCh38: Chr6:157200777	ARID1B	Q1465, Q1478, Q1518, Q685	Coffin-Siris syndrome 1	Pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 167912184.	NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter) GRCh37: Chr6:157222548 GRCh38: Chr6:156901414	ARID1B	Y675, Y688	Coffin-Siris syndrome 1	Likely pathogenic (Apr 19, 2022)	criteria provided, single submitter
Select item 152791085.	NM_001374828.1(ARID1B):c.2762G>T (p.Gly921Val) GRCh37: Chr6:157469758 GRCh38: Chr6:157148624	ARID1B	G88V, G921V, G934V	Coffin-Siris syndrome 1	Pathogenic (Mar 23, 2022)	criteria provided, single submitter
Select item 152620686.	NM_001374828.1(ARID1B):c.5402del (p.Gly1801fs) GRCh37: Chr6:157527307 GRCh38: Chr6:157206173	ARID1B	G1748fs, G1761fs, G1801fs, G968fs	Coffin-Siris syndrome 1	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 152614387.	NM_001374828.1(ARID1B):c.3827_3828del (p.Glu1276fs) GRCh37: Chr6:157505476-157505477 GRCh38: Chr6:157184342-157184343	ARID1B	E1223fs, E1236fs, E1276fs, E443fs	Coffin-Siris syndrome 1	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 142239788.	NM_001374828.1(ARID1B):c.869C>A (p.Ala290Asp) GRCh37: Chr6:157099683 GRCh38: Chr6:156778549	ARID1B	A290D	Inborn genetic diseases, not provided, Coffin-Siris syndrome 1	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 134454889.	NM_001374828.1(ARID1B):c.5263+1G>T GRCh37: Chr6:157522623 GRCh38: Chr6:157201489	ARID1B		Coffin-Siris syndrome 1	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 134313590.	NM_001374828.1(ARID1B):c.6236C>G (p.Ser2079Ter) GRCh37: Chr6:157528142 GRCh38: Chr6:157207008	ARID1B	S1246, S2026, S2039, S2079	Coffin-Siris syndrome 1	Pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 133450491.	NM_001374828.1(ARID1B):c.4215del (p.Phe1405fs) GRCh37: Chr6:157511326 GRCh38: Chr6:157190192	ARID1B	F1352fs, F1365fs, F1405fs, F572fs	Coffin-Siris syndrome 1	Pathogenic (Apr 23, 2021)	criteria provided, single submitter
Select item 133442492.	NM_001374828.1(ARID1B):c.2058del (p.Gln686fs) GRCh37: Chr6:157222581 GRCh38: Chr6:156901447	ARID1B	Q686fs, Q699fs	Coffin-Siris syndrome 1	Pathogenic	no assertion criteria provided
Select item 133386293.	NM_001374828.1(ARID1B):c.5264-2A>G GRCh37: Chr6:157524998 GRCh38: Chr6:157203864	ARID1B		Coffin-Siris syndrome 1	Likely pathogenic (Nov 24, 2020)	criteria provided, single submitter
Select item 133386194.	NM_001374828.1(ARID1B):c.3074A>T (p.Asn1025Ile) GRCh37: Chr6:157470070 GRCh38: Chr6:157148936	ARID1B	N1025I, N1038I, N192I	Coffin-Siris syndrome 1	Uncertain significance (Jul 28, 2020)	criteria provided, single submitter
Select item 133354595.	NM_001374828.1(ARID1B):c.4808del (p.Gly1603fs) GRCh37: Chr6:157522165 GRCh38: Chr6:157201031	ARID1B	G1550fs, G1563fs, G1603fs, G770fs	Coffin-Siris syndrome 1	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 132557196.	NM_001374828.1(ARID1B):c.4573G>A (p.Glu1525Lys) GRCh37: Chr6:157521932 GRCh38: Chr6:157200798	ARID1B	E1472K, E1485K, E1525K, E692K	Coffin-Siris syndrome 1	Uncertain significance (Apr 18, 2020)	criteria provided, single submitter
Select item 132392797.	NM_001374828.1(ARID1B):c.3664dup (p.Asp1222fs) GRCh37: Chr6:157502260-157502261 GRCh38: Chr6:157181126-157181127	ARID1B	D1169fs, D1182fs, D1222fs, D389fs	Coffin-Siris syndrome 1	Likely pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 132341098.	NM_001374828.1(ARID1B):c.6377dup (p.Val2128fs) GRCh37: Chr6:157528281-157528282 GRCh38: Chr6:157207147-157207148	ARID1B	V1295fs, V2075fs, V2088fs, V2128fs	Coffin-Siris syndrome 1	Pathogenic (Jun 12, 2019)	criteria provided, single submitter
Select item 132340999.	NM_001374828.1(ARID1B):c.4478del (p.Pro1493fs) GRCh37: Chr6:157520039 GRCh38: Chr6:157198905	ARID1B	P1440fs, P1453fs, P1493fs, P660fs	Coffin-Siris syndrome 1	Pathogenic (Dec 21, 2020)	criteria provided, single submitter
Select item 1320276100.	NM_001374828.1(ARID1B):c.5218C>T (p.Gln1740Ter) GRCh37: Chr6:157522577 GRCh38: Chr6:157201443	ARID1B	Q1687, Q1700, Q1740, Q907	Coffin-Siris syndrome 1	Pathogenic (Oct 2, 2021)	criteria provided, single submitter

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