ClinVar for MedGen (Select 482831) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 385

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792841.	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1 GRCh38: Chr6:150905553-158511926	AKAP12, ARID1B, ARMT1, CCDC170, CLDN20, CNKSR3, ESR1, FBXO5, GTF2H5, IPCEF1, LINC02840, LOC102723831, LOC105378066, LOC105378068, LOC105378073, LOC111828526, LOC115308161, LOC116183076, LOC116183077, LOC121132711, LOC123881337, LOC123881338, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC126859831, LOC126859832, LOC126859833, LOC126859834, LOC126859835, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, MIR1202, MIR12131, MIR1273C, MIR3692, MIR4466, MTHFD1L, MTRF1L, MYCT1, NOX3, OPRM1, RGS17, RMND1, SCAF8, SERAC1, SNORA116, SNORD28B, SNX9, SNX9-AS1, SYNE1, SYNE1-AS1, SYNJ2, SYNJ2-IT1, TFB1M, TIAM2, TMEM242, TULP4, VIP, ZBTB2, ZDHHC14		Coffin-Siris syndrome 1	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25791692.	GRCh38/hg38 6q25.3(chr6:157036218-157111403)x1 GRCh38: Chr6:157036218-157111403	ARID1B		Coffin-Siris syndrome 1	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25783803.	NM_001374828.1(ARID1B):c.1400del (p.Gly467fs) GRCh37: Chr6:157100210 GRCh38: Chr6:156779076	ARID1B	G467fs	Coffin-Siris syndrome 1	not provided	no assertion provided
Select item 25729884.	NM_001374828.1(ARID1B):c.4400dup (p.Gln1468fs) GRCh37: Chr6:157519961-157519962 GRCh38: Chr6:157198827-157198828	ARID1B	Q1415fs, Q1428fs, Q1468fs, Q635fs	Coffin-Siris syndrome 1	Pathogenic (May 23, 2023)	criteria provided, single submitter
Select item 25725545.	NM_001374828.1(ARID1B):c.6161dup (p.Cys2055fs) GRCh37: Chr6:157528066-157528067 GRCh38: Chr6:157206932-157206933	ARID1B	C1222fs, C2002fs, C2015fs, C2055fs	Coffin-Siris syndrome 1	Likely pathogenic	criteria provided, single submitter
Select item 25724936.	NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter) GRCh37: Chr6:157521997 GRCh38: Chr6:157200863	ARID1B	Y1352, Y1423, Y1463, Y1493, Y1506, Y1546, Y713*	Coffin-Siris syndrome 1	Likely pathogenic	criteria provided, single submitter
Select item 25724347.	NM_001374828.1(ARID1B):c.3813C>G (p.Tyr1271Ter) GRCh37: Chr6:157505463 GRCh38: Chr6:157184329	ARID1B	Y1077, Y1148, Y1188, Y1218, Y1231, Y1271, Y438*	Coffin-Siris syndrome 1	Pathogenic	criteria provided, single submitter
Select item 25723848.	NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter) GRCh37: Chr6:157505371 GRCh38: Chr6:157184237	ARID1B	K1047, K1118, K1158, K1188, K1201, K1241, K408*	Coffin-Siris syndrome 1	Likely pathogenic	criteria provided, single submitter
Select item 25055559.	NM_001374828.1(ARID1B):c.6723C>T (p.Tyr2241=) GRCh37: Chr6:157528629 GRCh38: Chr6:157207495	ARID1B		Coffin-Siris syndrome 1	Likely benign	criteria provided, single submitter
Select item 250527410.	NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs) GRCh37: Chr6:157454322-157454330 GRCh38: Chr6:157133188-157133196	ARID1B	M81fs, M914fs, M927fs	Coffin-Siris syndrome 1	Likely pathogenic (Feb 9, 2023)	criteria provided, single submitter
Select item 250527311.	NM_001374828.1(ARID1B):c.6924del (p.Leu2310fs) GRCh37: Chr6:157528830 GRCh38: Chr6:157207696	ARID1B	L1477fs, L2257fs, L2270fs, L2310fs	Coffin-Siris syndrome 1	Pathogenic (Feb 8, 2023)	criteria provided, single submitter
Select item 250507012.	NM_001374828.1(ARID1B):c.6218A>G (p.Asn2073Ser) GRCh37: Chr6:157528124 GRCh38: Chr6:157206990	ARID1B	N1240S, N1879S, N1950S, N1990S, N2020S, N2033S, N2073S	Coffin-Siris syndrome 1	not provided	no assertion provided
Select item 250287313.	NM_001374828.1(ARID1B):c.1811del (p.Met604fs) GRCh37: Chr6:157150380 GRCh38: Chr6:156829246	ARID1B	M604fs	Coffin-Siris syndrome 1	Likely pathogenic (May 11, 2023)	criteria provided, single submitter
Select item 250091114.	NM_001374828.1(ARID1B):c.6359_6360del (p.Lys2120fs) GRCh37: Chr6:157528264-157528265 GRCh38: Chr6:157207130-157207131	ARID1B	K1287fs, K2067fs, K2080fs, K2120fs	Coffin-Siris syndrome 1	Likely pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 250091015.	NM_001374828.1(ARID1B):c.5417dup (p.Leu1806fs) GRCh37: Chr6:157527319-157527320 GRCh38: Chr6:157206185-157206186	ARID1B	L1753fs, L1766fs, L1806fs, L973fs	Coffin-Siris syndrome 1	Likely pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 250090916.	NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter) GRCh37: Chr6:157522163 GRCh38: Chr6:157201029	ARID1B	Q1408, Q1479, Q1519, Q1549, Q1562, Q1602, Q769*	Coffin-Siris syndrome 1	Pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 250074617.	NM_001374828.1(ARID1B):c.2491G>C (p.Gly831Arg) GRCh37: Chr6:157406039 GRCh38: Chr6:157084905	ARID1B	G690R, G748R, G761R, G831R, G844R	Coffin-Siris syndrome 1	Likely pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 249957018.	NM_001374828.1(ARID1B):c.3163_3167dup (p.Ser1056fs) GRCh37: Chr6:157488246-157488247 GRCh38: Chr6:157167112-157167113	ARID1B	S1056fs, S1069fs, S223fs	Coffin-Siris syndrome 1	Pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 249813619.	NM_001374828.1(ARID1B):c.6762del (p.Met2255fs) GRCh37: Chr6:157528667 GRCh38: Chr6:157207533	ARID1B	M1422fs, M2202fs, M2215fs, M2255fs	Coffin-Siris syndrome 1	Pathogenic (Jun 4, 2021)	criteria provided, single submitter
Select item 244431020.	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 244426821.	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 244420722.	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 244409123.	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 244237324.	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 244208825.	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 244192426.	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 243919627.	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 243919528.	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 243919329.	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 243919230.	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 243919131.	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 243919032.	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 243918933.	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 243918834.	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 243918635.	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 243918536.	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 243918437.	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 243918338.	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 243918239.	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 243918140.	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 243917941.	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 243917842.	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 243917743.	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 243917644.	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 243917545.	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 243917446.	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 243917347.	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 243917248.	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 243917149.	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 243917050.	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 243916951.	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 243916852.	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 243497853.	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 243495354.	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 243151955.	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 243144056.	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 241818957.	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 224075058.	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 220047859.	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 207454460.	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 180634661.	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 180580962.	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 180563663.	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 180542164.	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 180538865.	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 180506566.	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 180497967.	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 180491568.	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 180318769.	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 180302570.	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 180258971.	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 180258272.	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 177597373.	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 177067674.	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 173842175.	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 172231876.	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 171319377.	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 171035578.	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 170991379.	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 (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 170935380.	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 170906481.	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 170659682.	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 170653483.	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 170560584.	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 170557385.	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 170532086.	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 170376487.	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 170368488.	GRCh37/hg19 6q25.3(chr6:157377242-157431665) GRCh37: Chr6:157377242-157431665	ARID1B		Coffin-Siris syndrome 1	Pathogenic	no assertion criteria provided
Select item 170368389.	GRCh37/hg19 6q25.3(chr6:157341357-157455697) GRCh37: Chr6:157341357-157455697	ARID1B		Coffin-Siris syndrome 1	Pathogenic	no assertion criteria provided
Select item 170172390.	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 170166691.	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 169905592.	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 169734693.	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 169447594.	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 168731395.	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 168716096.	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 168710297.	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 168554498.	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 168554399.	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 1679742100.	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

<< First< Prev

Page of 4