ClinVar for MedGen (Select 1615540) - ClinVar

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Items: 77

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24392051.	NM_152641.4(ARID2):c.1588G>A (p.Ala530Thr) GRCh37: Chr12:46242626 GRCh38: Chr12:45848843	ARID2	A530T	Coffin-Siris syndrome 6	Uncertain significance (Mar 19, 2021)	criteria provided, single submitter
Select item 24392042.	NM_152641.4(ARID2):c.485T>A (p.Val162Glu) GRCh37: Chr12:46211519 GRCh38: Chr12:45817736	ARID2	V162E	Coffin-Siris syndrome 6	Uncertain significance (Jul 30, 2019)	criteria provided, single submitter
Select item 24392033.	NM_152641.4(ARID2):c.3845A>G (p.Asp1282Gly) GRCh37: Chr12:46245751 GRCh38: Chr12:45851968	ARID2	D1282G	Coffin-Siris syndrome 6	Uncertain significance (Oct 19, 2021)	criteria provided, single submitter
Select item 24392024.	NM_152641.4(ARID2):c.4433T>C (p.Ile1478Thr) GRCh37: Chr12:46246339 GRCh38: Chr12:45852556	ARID2	I1478T	Coffin-Siris syndrome 6	Uncertain significance (Mar 24, 2021)	criteria provided, single submitter
Select item 24392015.	NM_152641.4(ARID2):c.1447C>T (p.Pro483Ser) GRCh37: Chr12:46233228 GRCh38: Chr12:45839445	ARID2	P483S	Coffin-Siris syndrome 6	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 24392006.	NM_152641.4(ARID2):c.2473T>C (p.Ser825Pro) GRCh37: Chr12:46244379 GRCh38: Chr12:45850596	ARID2	S825P	Coffin-Siris syndrome 6	Uncertain significance (Jun 24, 2021)	criteria provided, single submitter
Select item 24391997.	NM_152641.4(ARID2):c.121G>C (p.Gly41Arg) GRCh37: Chr12:46123855 GRCh38: Chr12:45730072	ARID2	G41R	Coffin-Siris syndrome 6	Uncertain significance (Nov 9, 2020)	criteria provided, single submitter
Select item 24391988.	NM_152641.4(ARID2):c.3608T>C (p.Met1203Thr) GRCh37: Chr12:46245514 GRCh38: Chr12:45851731	ARID2	M1203T	Coffin-Siris syndrome 6	Uncertain significance (Jun 18, 2020)	criteria provided, single submitter
Select item 24391979.	NM_152641.4(ARID2):c.4087G>A (p.Asp1363Asn) GRCh37: Chr12:46245993 GRCh38: Chr12:45852210	ARID2	D1363N	Coffin-Siris syndrome 6	Uncertain significance (Feb 18, 2021)	criteria provided, single submitter
Select item 243163310.	NM_152641.4(ARID2):c.5080G>T (p.Asp1694Tyr) GRCh37: Chr12:46285812 GRCh38: Chr12:45892029	ARID2	D1694Y	Coffin-Siris syndrome 6	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 243028411.	NM_152641.4(ARID2):c.1588G>T (p.Ala530Ser) GRCh37: Chr12:46242626 GRCh38: Chr12:45848843	ARID2	A530S	Coffin-Siris syndrome 6	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 187853712.	NM_152641.4(ARID2):c.1973A>G (p.Gln658Arg) GRCh37: Chr12:46243879 GRCh38: Chr12:45850096	ARID2	Q658R	Coffin-Siris syndrome 6	Uncertain significance	criteria provided, single submitter
Select item 180586513.	NM_152641.4(ARID2):c.1334_1338del (p.Met445fs) GRCh37: Chr12:46233114-46233118 GRCh38: Chr12:45839331-45839335	ARID2	M445fs	Coffin-Siris syndrome 6	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 180397214.	NM_152641.4(ARID2):c.4126_4142del (p.Ile1376fs) GRCh37: Chr12:46246027-46246043 GRCh38: Chr12:45852244-45852260	ARID2	I1376fs	Coffin-Siris syndrome 6	Likely pathogenic (May 12, 2020)	criteria provided, single submitter
Select item 171046315.	NM_152641.4(ARID2):c.2767C>T (p.Gln923Ter) GRCh37: Chr12:46244673 GRCh38: Chr12:45850890	ARID2	Q923*	Coffin-Siris syndrome 6	Pathogenic (Jul 28, 2022)	criteria provided, single submitter
Select item 171027816.	NM_152641.4(ARID2):c.675G>A (p.Trp225Ter) GRCh37: Chr12:46215240 GRCh38: Chr12:45821457	ARID2	W225*	Coffin-Siris syndrome 6	Pathogenic (Jun 2, 2022)	no assertion criteria provided
Select item 170935717.	NM_152641.4(ARID2):c.4731G>T (p.Lys1577Asn) GRCh37: Chr12:46246637 GRCh38: Chr12:45852854	ARID2	K1577N	Coffin-Siris syndrome 6	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 170821118.	NM_152641.4(ARID2):c.2659C>T (p.Gln887Ter) GRCh37: Chr12:46244565 GRCh38: Chr12:45850782	ARID2	Q887*	Coffin-Siris syndrome 6	Likely pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 170553619.	NM_152641.4(ARID2):c.3643C>T (p.Gln1215Ter) GRCh37: Chr12:46245549 GRCh38: Chr12:45851766	ARID2	Q1215*	Coffin-Siris syndrome 6	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170535120.	NM_152641.4(ARID2):c.791G>A (p.Trp264Ter) GRCh37: Chr12:46230542 GRCh38: Chr12:45836759	ARID2	W264*	Coffin-Siris syndrome 6	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170171121.	NM_152641.4(ARID2):c.4568A>G (p.Asp1523Gly) GRCh37: Chr12:46246474 GRCh38: Chr12:45852691	ARID2	D1523G	Coffin-Siris syndrome 6	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 170162122.	NM_152641.4(ARID2):c.186G>C (p.Lys62Asn) GRCh37: Chr12:46123920 GRCh38: Chr12:45730137	ARID2	K62N	Coffin-Siris syndrome 6	Uncertain significance (Sep 8, 2021)	criteria provided, single submitter
Select item 169904523.	NM_152641.4(ARID2):c.4252G>A (p.Gly1418Arg) GRCh37: Chr12:46246158 GRCh38: Chr12:45852375	ARID2	G1418R	Coffin-Siris syndrome 6	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 169901924.	NM_152641.4(ARID2):c.4255_4256del (p.Pro1419fs) GRCh37: Chr12:46246161-46246162 GRCh38: Chr12:45852378-45852379	ARID2	P1419fs	Coffin-Siris syndrome 6	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 168741225.	NM_152641.4(ARID2):c.4942_4943del (p.Gln1648fs) GRCh37: Chr12:46285580-46285581 GRCh38: Chr12:45891797-45891798	ARID2	Q1648fs	Coffin-Siris syndrome 6	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168462526.	NM_152641.4(ARID2):c.2377C>T (p.Gln793Ter) GRCh37: Chr12:46244283 GRCh38: Chr12:45850500	ARID2	Q793*	Coffin-Siris syndrome 6	Pathogenic	no assertion criteria provided
Select item 168407527.	NM_152641.4(ARID2):c.5359C>T (p.Arg1787Cys) GRCh37: Chr12:46287500 GRCh38: Chr12:45893717	ARID2	R1787C	not provided	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 168374728.	NM_152641.4(ARID2):c.2566_2571del (p.Thr856_Ser857del) GRCh37: Chr12:46244472-46244477 GRCh38: Chr12:45850689-45850694	ARID2		Coffin-Siris syndrome 6	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 167928829.	NM_152641.4(ARID2):c.4210dup (p.Gln1404fs) GRCh37: Chr12:46246115-46246116 GRCh38: Chr12:45852332-45852333	ARID2	Q1404fs	Coffin-Siris syndrome 6	Pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 152628630.	Single allele GRCh38: Chr12:45690000-45750000	ARID2, LINC00938		Coffin-Siris syndrome 6	Pathogenic (Jan 18, 2022)	no assertion criteria provided
Select item 134324631.	NM_152641.4(ARID2):c.1331-1G>C GRCh37: Chr12:46233111 GRCh38: Chr12:45839328	ARID2		Coffin-Siris syndrome 6	Pathogenic (Dec 20, 2021)	criteria provided, single submitter
Select item 133407132.	NM_152641.4(ARID2):c.5093C>G (p.Ala1698Gly) GRCh37: Chr12:46285825 GRCh38: Chr12:45892042	ARID2	A1698G	Coffin-Siris syndrome 6	Uncertain significance (Apr 8, 2019)	criteria provided, single submitter
Select item 132031233.	NM_152641.4(ARID2):c.109dup (p.Ile37fs) GRCh37: Chr12:46123836-46123837 GRCh38: Chr12:45730053-45730054	ARID2	I37fs	Coffin-Siris syndrome 6	Likely pathogenic (Sep 24, 2021)	criteria provided, single submitter
Select item 132020934.	NM_152641.4(ARID2):c.3037C>T (p.Gln1013Ter) GRCh37: Chr12:46244943 GRCh38: Chr12:45851160	ARID2	Q1013*	Coffin-Siris syndrome 6	Likely pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 130181735.	NM_152641.4(ARID2):c.4853C>A (p.Ser1618Tyr) GRCh37: Chr12:46254663 GRCh38: Chr12:45860880	ARID2	S1618Y	Coffin-Siris syndrome 6	Uncertain significance (Feb 18, 2020)	criteria provided, single submitter
Select item 129943036.	NM_152641.4(ARID2):c.2230G>A (p.Val744Ile) GRCh37: Chr12:46244136 GRCh38: Chr12:45850353	ARID2	V744I	Coffin-Siris syndrome 6	Uncertain significance (Jun 23, 2021)	criteria provided, single submitter
Select item 128552037.	NM_152641.4(ARID2):c.4540_4541delinsGAA (p.Thr1514fs) GRCh37: Chr12:46246446-46246447 GRCh38: Chr12:45852663-45852664	ARID2	T1514fs	Coffin-Siris syndrome 6	Pathogenic (Sep 7, 2020)	criteria provided, single submitter
Select item 128539938.	NM_152641.4(ARID2):c.1716-2A>G GRCh37: Chr12:46243361 GRCh38: Chr12:45849578	ARID2		Coffin-Siris syndrome 6	Likely pathogenic (Oct 7, 2020)	criteria provided, single submitter
Select item 117096239.	GRCh37/hg19 12q12(chr12:46150008-46321670)x1 GRCh37: Chr12:46150008-46321670	ARID2, SCAF11		Coffin-Siris syndrome 6	Pathogenic (Jan 1, 2021)	no assertion criteria provided
Select item 117096140.	GRCh37/hg19 12q12(chr12:46168172-46304719)x1 GRCh37: Chr12:46168172-46304719	ARID2		Coffin-Siris syndrome 6	Pathogenic (Jan 1, 2021)	no assertion criteria provided
Select item 117096041.	NM_152641.3:c.(705+1_706-1)_(1330+1_1331-1)del	ARID2		Coffin-Siris syndrome 6	Pathogenic (Jan 1, 2021)	no assertion criteria provided
Select item 117095942.	NM_152641.4(ARID2):c.4732C>T (p.Gln1578Ter) GRCh37: Chr12:46246638 GRCh38: Chr12:45852855	ARID2	Q1578*	Coffin-Siris syndrome 6	Pathogenic (Jan 1, 2021)	criteria provided, single submitter
Select item 117095843.	NM_152641.4(ARID2):c.3814C>T (p.Arg1272Ter) GRCh37: Chr12:46245720 GRCh38: Chr12:45851937	ARID2	R1272*	Coffin-Siris syndrome 6	Pathogenic (Jan 1, 2021)	criteria provided, single submitter
Select item 117095744.	NM_152641.4(ARID2):c.3301_3302insAGGT (p.Val1101fs) GRCh37: Chr12:46245207-46245208 GRCh38: Chr12:45851424-45851425	ARID2	V1101fs	Coffin-Siris syndrome 6	Pathogenic (Jan 1, 2021)	criteria provided, single submitter
Select item 117095645.	NM_152641.4(ARID2):c.2401_2402del (p.Met801fs) GRCh37: Chr12:46244305-46244306 GRCh38: Chr12:45850522-45850523	ARID2	M801fs	Coffin-Siris syndrome 6	Pathogenic (Jan 1, 2021)	criteria provided, single submitter
Select item 117095546.	NM_152641.4(ARID2):c.400dup (p.Gln134fs) GRCh37: Chr12:46205314-46205315 GRCh38: Chr12:45811531-45811532	ARID2	Q134fs	Coffin-Siris syndrome 6	Pathogenic (Jan 1, 2021)	criteria provided, single submitter
Select item 117095447.	NM_152641.4(ARID2):c.118dup (p.Val40fs) GRCh37: Chr12:46123850-46123851 GRCh38: Chr12:45730067-45730068	ARID2	V40fs	Coffin-Siris syndrome 6	Pathogenic (Jan 1, 2021)	criteria provided, single submitter
Select item 106456148.	NM_152641.4(ARID2):c.1648C>G (p.Leu550Val) GRCh37: Chr12:46242686 GRCh38: Chr12:45848903	ARID2	L550V	Coffin-Siris syndrome 6	Uncertain significance (May 1, 2020)	criteria provided, single submitter
Select item 103432749.	NM_152641.4(ARID2):c.5026C>T (p.Gln1676Ter) GRCh37: Chr12:46285666 GRCh38: Chr12:45891883	ARID2	Q1676*	ARID2-related BAFopathy, Coffin-Siris syndrome 6	Pathogenic (Jun 10, 2021)	criteria provided, single submitter
Select item 103432650.	NM_152641.4(ARID2):c.410G>C (p.Ser137Thr) GRCh37: Chr12:46205326 GRCh38: Chr12:45811543	ARID2	S137T	Coffin-Siris syndrome 6	Uncertain significance (Jul 16, 2018)	criteria provided, single submitter
Select item 103432551.	NM_152641.4(ARID2):c.3694A>G (p.Thr1232Ala) GRCh37: Chr12:46245600 GRCh38: Chr12:45851817	ARID2	T1232A	Coffin-Siris syndrome 6	Uncertain significance (Mar 27, 2018)	criteria provided, single submitter
Select item 103432452.	NM_152641.4(ARID2):c.2556G>T (p.Gln852His) GRCh37: Chr12:46244462 GRCh38: Chr12:45850679	ARID2	Q852H	Coffin-Siris syndrome 6	Uncertain significance (Jul 24, 2018)	criteria provided, single submitter
Select item 103120853.	NM_152641.4(ARID2):c.820C>T (p.Arg274Ter) GRCh37: Chr12:46230571 GRCh38: Chr12:45836788	ARID2	R274*	ARID2-related BAFopathy, Coffin-Siris syndrome 6	Likely pathogenic (Jun 10, 2021)	criteria provided, single submitter
Select item 103120754.	NM_152641.4(ARID2):c.7A>C (p.Asn3His) GRCh37: Chr12:46123626 GRCh38: Chr12:45729843	ARID2	N3H	Coffin-Siris syndrome 6	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 103120655.	NM_152641.4(ARID2):c.4125C>T (p.Asn1375=) GRCh37: Chr12:46246031 GRCh38: Chr12:45852248	ARID2		Coffin-Siris syndrome 6	Uncertain significance (Jul 20, 2019)	criteria provided, single submitter
Select item 98495156.	NM_152641.4(ARID2):c.1121-1G>A GRCh37: Chr12:46231280 GRCh38: Chr12:45837497	ARID2		Coffin-Siris syndrome 6	Pathogenic (Mar 27, 2020)	criteria provided, single submitter
Select item 97672857.	NM_152641.4(ARID2):c.1784_1785del (p.His595fs) GRCh37: Chr12:46243431-46243432 GRCh38: Chr12:45849648-45849649	ARID2	H595fs	Coffin-Siris syndrome 6	Pathogenic (Jun 8, 2020)	criteria provided, single submitter
Select item 93173158.	NM_152641.4(ARID2):c.4640_4659del (p.Ala1547fs) GRCh37: Chr12:46246538-46246557 GRCh38: Chr12:45852755-45852774	ARID2	A1547fs	Coffin-Siris syndrome 6	Pathogenic (Mar 31, 2020)	criteria provided, single submitter
Select item 91536759.	NM_152641.4(ARID2):c.4769C>T (p.Pro1590Leu) GRCh37: Chr12:46246675 GRCh38: Chr12:45852892	ARID2	P1590L	Coffin-Siris syndrome 6	Benign (May 3, 2020)	criteria provided, single submitter
Select item 81266960.	NM_152641.4(ARID2):c.3927_3928del (p.Gly1310fs) GRCh37: Chr12:46245833-46245834 GRCh38: Chr12:45852050-45852051	ARID2	G1310fs	Coffin-Siris syndrome 6	Likely pathogenic (Mar 9, 2018)	criteria provided, single submitter
Select item 80754161.	NM_152641.4(ARID2):c.2114del (p.Ser705fs) GRCh37: Chr12:46244020 GRCh38: Chr12:45850237	ARID2	S705fs	Coffin-Siris syndrome 6	Pathogenic (Dec 30, 2019)	criteria provided, single submitter
Select item 80283962.	NM_152641.4(ARID2):c.5346T>G (p.Tyr1782Ter) GRCh37: Chr12:46287487 GRCh38: Chr12:45893704	ARID2	Y1782*	Coffin-Siris syndrome 6	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80283863.	NM_152641.4(ARID2):c.5008G>A (p.Glu1670Lys) GRCh37: Chr12:46285648 GRCh38: Chr12:45891865	ARID2	E1670K	Coffin-Siris syndrome 6	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 73510264.	NM_152641.4(ARID2):c.180C>T (p.Phe60=) GRCh37: Chr12:46123914 GRCh38: Chr12:45730131	ARID2		not provided, Coffin-Siris syndrome 6	Benign/Likely benign (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71974765.	NM_152641.4(ARID2):c.339A>C (p.Val113=) GRCh37: Chr12:46205255 GRCh38: Chr12:45811472	ARID2		Coffin-Siris syndrome 6, not provided	Benign/Likely benign (Aug 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 54570566.	NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter) GRCh37: Chr12:46244427 GRCh38: Chr12:45850644	ARID2	Q841*	Coffin-Siris syndrome 6	Pathogenic (Jun 11, 2020)	criteria provided, single submitter
Select item 44892167.	NC_000012.11:g.46125066_46230365del GRCh37: Chr12:46125066-46230365	ARID2		Coffin-Siris syndrome 6	Pathogenic (Dec 13, 2017)	no assertion criteria provided
Select item 44892068.	NM_152641.4(ARID2):c.156del (p.Arg53fs) GRCh37: Chr12:46123889 GRCh38: Chr12:45730106	ARID2	R53fs	Coffin-Siris syndrome 6	Pathogenic (Dec 13, 2017)	no assertion criteria provided
Select item 44891969.	NM_152641.4(ARID2):c.3411_3412del (p.Gly1139fs) GRCh37: Chr12:46245317-46245318 GRCh38: Chr12:45851534-45851535	ARID2	G1139fs	Coffin-Siris syndrome 6	Pathogenic (Jan 1, 2021)	criteria provided, single submitter
Select item 44891870.	NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) GRCh37: Chr12:46246224 GRCh38: Chr12:45852441	ARID2	Q1440*	Coffin-Siris syndrome 6	Likely pathogenic (Oct 15, 2018)	criteria provided, single submitter
Select item 44891771.	NM_152641.4(ARID2):c.4441del (p.His1481fs) GRCh37: Chr12:46246347 GRCh38: Chr12:45852564	ARID2	H1481fs	Coffin-Siris syndrome 6	Pathogenic (Dec 14, 2017)	no assertion criteria provided
Select item 44891672.	NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) GRCh37: Chr12:46231108 GRCh38: Chr12:45837325	ARID2	L343*	Coffin-Siris syndrome 6	Likely pathogenic (Oct 15, 2018)	criteria provided, single submitter
Select item 43236073.	NM_152641.4(ARID2):c.2758C>T (p.Gln920Ter) GRCh37: Chr12:46244664 GRCh38: Chr12:45850881	ARID2	Q920*	Coffin-Siris syndrome 6, not provided	Pathogenic (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20782374.	NM_152641.4(ARID2):c.2536del (p.Val846fs) GRCh37: Chr12:46244442 GRCh38: Chr12:45850659	ARID2	V846fs	not provided	Pathogenic (Dec 12, 2016)	criteria provided, single submitter
Select item 13356875.	NM_152641.4(ARID2):c.4300G>T (p.Ala1434Ser) GRCh37: Chr12:46246206 GRCh38: Chr12:45852423	ARID2	A1434S	Coffin-Siris syndrome 6, not provided	Benign (Jul 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13356076.	NM_152641.4(ARID2):c.1808C>T (p.Ala603Val) GRCh37: Chr12:46243455 GRCh38: Chr12:45849672	ARID2	A603V	Coffin-Siris syndrome 6, not provided	Likely benign (Sep 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13355877.	NM_152641.4(ARID2):c.1472C>G (p.Thr491Ser) GRCh37: Chr12:46233253 GRCh38: Chr12:45839470	ARID2	T491S	not provided, Coffin-Siris syndrome 6, Inborn genetic diseases	Benign/Likely benign (Oct 18, 2021)	criteria provided, multiple submitters, no conflicts

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Items: 77