ClinVar for MedGen (Select 1615540) - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067868	NM_152641.4(ARID2):c.3601_3608del (p.Ile1201fs)	ARID2 (I1201fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 3065605	NM_152641.4(ARID2):c.4186C>T (p.Gln1396Ter)	ARID2 (Q1396*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 3065127	NM_152641.4(ARID2):c.3600_3601insG (p.Ile1201fs)	ARID2 (I1201fs)	Insertion (frameshift variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2691005	NM_152641.4(ARID2):c.869_881del (p.Ala290fs)	ARID2 (A290fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 2688606	NM_152641.4(ARID2):c.3764G>A (p.Gly1255Asp)	ARID2 (G1255D)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2688605	NM_152641.4(ARID2):c.905A>G (p.Asn302Ser)	ARID2 (N302S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2688604	NM_152641.4(ARID2):c.5261G>A (p.Arg1754Gln)	ARID2 (R1754Q)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2671933	NM_152641.4(ARID2):c.542_552del (p.Thr181fs)	ARID2 (T181fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 2663772	NM_152641.4(ARID2):c.1746_1747del (p.Arg582fs)	ARID2 (R582fs)	Microsatellite (frameshift variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 2584343	NM_152641.4(ARID2):c.890C>T (p.Ser297Phe)	ARID2 (S297F)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 2439205	NM_152641.4(ARID2):c.1588G>A (p.Ala530Thr)	ARID2 (A530T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2439204	NM_152641.4(ARID2):c.485T>A (p.Val162Glu)	ARID2 (V162E)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2439203	NM_152641.4(ARID2):c.3845A>G (p.Asp1282Gly)	ARID2 (D1282G)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2439202	NM_152641.4(ARID2):c.4433T>C (p.Ile1478Thr)	ARID2 (I1478T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2439201	NM_152641.4(ARID2):c.1447C>T (p.Pro483Ser)	ARID2 (P483S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2439200	NM_152641.4(ARID2):c.2473T>C (p.Ser825Pro)	ARID2 (S825P)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2439199	NM_152641.4(ARID2):c.121G>C (p.Gly41Arg)	ARID2, LOC130007728 (G41R)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2439198	NM_152641.4(ARID2):c.3608T>C (p.Met1203Thr)	ARID2 (M1203T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2439197	NM_152641.4(ARID2):c.4087G>A (p.Asp1363Asn)	ARID2 (D1363N)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2431633	NM_152641.4(ARID2):c.5080G>T (p.Asp1694Tyr)	ARID2 (D1694Y)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 2430284	NM_152641.4(ARID2):c.1588G>T (p.Ala530Ser)	ARID2 (A530S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1878537	NM_152641.4(ARID2):c.1973A>G (p.Gln658Arg)	ARID2 (Q658R)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1805865	NM_152641.4(ARID2):c.1334_1338del (p.Met445fs)	ARID2 (M445fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 1803972	NM_152641.4(ARID2):c.4126_4142del (p.Ile1376fs)	ARID2 (I1376fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 1710463	NM_152641.4(ARID2):c.2767C>T (p.Gln923Ter)	ARID2 (Q923*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GPathogenic
Select item 1710278	NM_152641.4(ARID2):c.675G>A (p.Trp225Ter)	ARID2 (W225*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GPathogenic
Select item 1709357	NM_152641.4(ARID2):c.4731G>T (p.Lys1577Asn)	ARID2 (K1577N)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1708211	NM_152641.4(ARID2):c.2659C>T (p.Gln887Ter)	ARID2 (Q887*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 1705536	NM_152641.4(ARID2):c.3643C>T (p.Gln1215Ter)	ARID2 (Q1215*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 1705351	NM_152641.4(ARID2):c.791G>A (p.Trp264Ter)	ARID2 (W264*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 1701711	NM_152641.4(ARID2):c.4568A>G (p.Asp1523Gly)	ARID2 (D1523G)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1701621	NM_152641.4(ARID2):c.186G>C (p.Lys62Asn)	ARID2, LOC130007728 (K62N)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1699045	NM_152641.4(ARID2):c.4252G>A (p.Gly1418Arg)	ARID2 (G1418R)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1699019	NM_152641.4(ARID2):c.4255_4256del (p.Pro1419fs)	ARID2 (P1419fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 1687412	NM_152641.4(ARID2):c.4942_4943del (p.Gln1648fs)	ARID2 (Q1648fs)	Microsatellite (frameshift variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 1684625	NM_152641.4(ARID2):c.2377C>T (p.Gln793Ter)	ARID2 (Q793*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GPathogenic
Select item 1684075	NM_152641.4(ARID2):c.5359C>T (p.Arg1787Cys)	ARID2 (R1787C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683747	NM_152641.4(ARID2):c.2566_2571del (p.Thr856_Ser857del)	ARID2	Deletion (inframe_deletion)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1679288	NM_152641.4(ARID2):c.4210dup (p.Gln1404fs)	ARID2 (Q1404fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 1526286	NC_000012.12:g.45690000_45750000del	ARID2, LINC00938 +2 more	Deletion	Coffin-Siris syndrome 6	GPathogenic
Select item 1343246	NM_152641.4(ARID2):c.1331-1G>C	ARID2	Single nucleotide variant (splice acceptor variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 1334071	NM_152641.4(ARID2):c.5093C>G (p.Ala1698Gly)	ARID2 (A1698G)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6 +1 more	GUncertain significance
Select item 1320312	NM_152641.4(ARID2):c.109dup (p.Ile37fs)	ARID2, LOC130007728 (I37fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 1320209	NM_152641.4(ARID2):c.3037C>T (p.Gln1013Ter)	ARID2 (Q1013*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 1301817	NM_152641.4(ARID2):c.4853C>A (p.Ser1618Tyr)	ARID2 (S1618Y)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 1299430	NM_152641.4(ARID2):c.2230G>A (p.Val744Ile)	ARID2 (V744I)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1285520	NM_152641.4(ARID2):c.4540_4541delinsGAA (p.Thr1514fs)	ARID2 (T1514fs)	Indel (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 1285399	NM_152641.4(ARID2):c.1716-2A>G	ARID2	Single nucleotide variant (splice acceptor variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 1170962	GRCh37/hg19 12q12(chr12:46150008-46321670)x1	ARID2, SCAF11	Copy number loss	Coffin-Siris syndrome 6	GPathogenic
Select item 1170961	GRCh37/hg19 12q12(chr12:46168172-46304719)x1	ARID2	Copy number loss	Coffin-Siris syndrome 6	GPathogenic
Select item 1170960	NM_152641.3:c.(705+1_706-1)_(1330+1_1331-1)del	ARID2	Deletion	Coffin-Siris syndrome 6	GPathogenic
Select item 1170959	NM_152641.4(ARID2):c.4732C>T (p.Gln1578Ter)	ARID2 (Q1578*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GPathogenic
Select item 1170958	NM_152641.4(ARID2):c.3814C>T (p.Arg1272Ter)	ARID2 (R1272*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GPathogenic
Select item 1170957	NM_152641.4(ARID2):c.3301_3302insAGGT (p.Val1101fs)	ARID2 (V1101fs)	Insertion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 1170956	NM_152641.4(ARID2):c.2401_2402del (p.Met801fs)	ARID2 (M801fs)	Microsatellite (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 1170955	NM_152641.4(ARID2):c.400dup (p.Gln134fs)	ARID2 (Q134fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic/Likely pathogenic
Select item 1170954	NM_152641.4(ARID2):c.118dup (p.Val40fs)	ARID2, LOC130007728 (V40fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 1064561	NM_152641.4(ARID2):c.1648C>G (p.Leu550Val)	ARID2 (L550V)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1034327	NM_152641.4(ARID2):c.5026C>T (p.Gln1676Ter)	ARID2 (Q1676*)	Single nucleotide variant (nonsense)	ARID2-related BAFopathy +1 more	GPathogenic
Select item 1034326	NM_152641.4(ARID2):c.410G>C (p.Ser137Thr)	ARID2 (S137T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1034325	NM_152641.4(ARID2):c.3694A>G (p.Thr1232Ala)	ARID2 (T1232A)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1034324	NM_152641.4(ARID2):c.2556G>T (p.Gln852His)	ARID2 (Q852H)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1031208	NM_152641.4(ARID2):c.820C>T (p.Arg274Ter)	ARID2 (R274*)	Single nucleotide variant (nonsense)	ARID2-related BAFopathy +1 more	GLikely pathogenic
Select item 1031207	NM_152641.4(ARID2):c.7A>C (p.Asn3His)	ARID2 (N3H)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 1031206	NM_152641.4(ARID2):c.4125C>T (p.Asn1375=)	ARID2	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 984951	NM_152641.4(ARID2):c.1121-1G>A	ARID2	Single nucleotide variant (splice acceptor variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 976728	NM_152641.4(ARID2):c.1784_1785del (p.His595fs)	ARID2 (H595fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 931731	NM_152641.4(ARID2):c.4640_4659del (p.Ala1547fs)	ARID2 (A1547fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 915367	NM_152641.4(ARID2):c.4769C>T (p.Pro1590Leu)	ARID2 (P1590L)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GBenign
Select item 812669	NM_152641.4(ARID2):c.3927_3928del (p.Gly1310fs)	ARID2 (G1310fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 807541	NM_152641.4(ARID2):c.2114del (p.Ser705fs)	ARID2 (S705fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 802839	NM_152641.4(ARID2):c.5346T>G (p.Tyr1782Ter)	ARID2 (Y1782*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GPathogenic
Select item 802838	NM_152641.4(ARID2):c.5008G>A (p.Glu1670Lys)	ARID2 (E1670K)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6	GUncertain significance
Select item 735102	NM_152641.4(ARID2):c.180C>T (p.Phe60=)	ARID2, LOC130007728	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 6 +1 more	GBenign/Likely benign
Select item 719747	NM_152641.4(ARID2):c.339A>C (p.Val113=)	ARID2	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 6 +1 more	GBenign/Likely benign
Select item 545705	NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter)	ARID2 (Q841*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GPathogenic
Select item 448921	NC_000012.11:g.46125066_46230365del	ARID2	Deletion	Coffin-Siris syndrome 6	GPathogenic
Select item 448920	NM_152641.4(ARID2):c.156del (p.Arg53fs)	ARID2, LOC130007728 (R53fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 448919	NM_152641.4(ARID2):c.3411_3412del (p.Gly1139fs)	ARID2 (G1139fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 448918	NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter)	ARID2 (Q1440*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 448917	NM_152641.4(ARID2):c.4441del (p.His1481fs)	ARID2 (H1481fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 6	GPathogenic
Select item 448916	NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter)	ARID2 (L343*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6	GLikely pathogenic
Select item 432360	NM_152641.4(ARID2):c.2758C>T (p.Gln920Ter)	ARID2 (Q920*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 6 +1 more	GPathogenic
Select item 207823	NM_152641.4(ARID2):c.2536del (p.Val846fs)	ARID2 (V846fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 133568	NM_152641.4(ARID2):c.4300G>T (p.Ala1434Ser)	ARID2 (A1434S)	Single nucleotide variant (missense variant)	ARID2-related condition +2 more	GBenign
Select item 133560	NM_152641.4(ARID2):c.1808C>T (p.Ala603Val)	ARID2 (A603V)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6 +1 more	GLikely benign
Select item 133558	NM_152641.4(ARID2):c.1472C>G (p.Thr491Ser)	ARID2 (T491S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 6 +3 more	GBenign/Likely benign

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Items: 87