ClinVar for MedGen (Select 482831) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 418

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066079	NM_001374828.1(ARID1B):c.6496A>G (p.Ser2166Gly)	ARID1B (S1333G +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 3065129	NM_001374828.1(ARID1B):c.951T>G (p.Tyr317Ter)	ARID1B, LOC129997525 (Y176* +2 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 3062109	NM_001374828.1(ARID1B):c.2221_2222dup (p.Gln741fs)	ARID1B (Q741fs +1 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 3062054	NM_001374828.1(ARID1B):c.5496del (p.Ala1833fs)	ARID1B (A1000fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 3061959	NM_001374828.1(ARID1B):c.6319G>A (p.Glu2107Lys)	ARID1B (E1274K +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GLikely benign
Select item 3061799	NM_001374828.1(ARID1B):c.6880C>T (p.Gln2294Ter)	ARID1B (Q1461* +6 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GPathogenic
Select item 3027463	NM_001374828.1(ARID1B):c.5693del (p.Lys1898fs)	ARID1B (K1065fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2921065	NM_001374828.1(ARID1B):c.1940del (p.Gly647fs)	ARID1B (G647fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 2691881	NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs)	ARID1B (Y441fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2688603	NM_001374828.1(ARID1B):c.1355G>A (p.Ser452Asn)	ARID1B (S311N +2 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2688602	NM_001374828.1(ARID1B):c.3172A>G (p.Ser1058Gly)	ARID1B (S1058G +5 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2688601	NM_001374828.1(ARID1B):c.3007C>A (p.Pro1003Thr)	ARID1B (P170T +5 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2688600	NM_001374828.1(ARID1B):c.5926G>A (p.Ala1976Thr)	ARID1B (A1143T +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2674618	NM_001374828.1(ARID1B):c.3235+2T>A	ARID1B	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 2664992	NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG	ARID1B	Indel (splice acceptor variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2664720	NM_001374828.1(ARID1B):c.5189_5194delinsAGGCT (p.Thr1730fs)	ARID1B (T1677fs +3 more)	Indel (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 2663889	NM_001374828.1(ARID1B):c.586T>C (p.Phe196Leu)	ARID1B, LOC115308161 (F113L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2663855	NM_001374828.1(ARID1B):c.3061C>T (p.Gln1021Ter)	ARID1B (Q1021* +5 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GPathogenic
Select item 2663826	NM_001374828.1(ARID1B):c.5825G>A (p.Trp1942Ter)	ARID1B (W1109* +6 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2657050	NM_001374828.1(ARID1B):c.421G>A (p.Ala141Thr)	ARID1B, LOC115308161 +1 more (A141T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2627755	NM_001374828.1(ARID1B):c.6773dup (p.Leu2258fs)	ARID1B (L1425fs +3 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 2627084	NM_001374828.1(ARID1B):c.4662G>T (p.Arg1554Ser)	ARID1B (R1360S +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2626903	NM_001374828.1(ARID1B):c.5867_5872delinsC (p.His1956fs)	ARID1B (H1123fs +3 more)	Indel (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 2584657	NM_001374828.1(ARID1B):c.19GCG[7] (p.Ala14del)	ARID1B, LOC115308161 +1 more (A14del)	Microsatellite (inframe_deletion)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2584654	NM_003107.3(SOX4):c.1157C>T (p.Ser386Phe)	SOX4 (S386F)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2580987	NM_001374828.1(ARID1B):c.5323A>G (p.Thr1775Ala)	ARID1B (T1581A +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GLikely benign
Select item 2580952	NM_001374828.1(ARID1B):c.4785T>G (p.Pro1595=)	ARID1B	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2580853	NM_001374828.1(ARID1B):c.6103del (p.Ser2035fs)	ARID1B (S1202fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 2579169	GRCh38/hg38 6q25.3(chr6:157036218-157111403)x1	ARID1B, LOC129389697 +4 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 2578380	NM_001374828.1(ARID1B):c.1400del (p.Gly467fs)	ARID1B (G467fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	Gnot provided
Select item 2572988	NM_001374828.1(ARID1B):c.4400dup (p.Gln1468fs)	ARID1B (Q1415fs +3 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 2572554	NM_001374828.1(ARID1B):c.6161dup (p.Cys2055fs)	ARID1B (C1222fs +3 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2572493	NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter)	ARID1B (Y1352* +6 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2572434	NM_001374828.1(ARID1B):c.3813C>G (p.Tyr1271Ter)	ARID1B (Y1077* +6 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GPathogenic
Select item 2572384	NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter)	ARID1B (K1047* +6 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2505555	NM_001374828.1(ARID1B):c.6723C>T (p.Tyr2241=)	ARID1B	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 1	GLikely benign
Select item 2505274	NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs)	ARID1B (M81fs +2 more)	Indel (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2505273	NM_001374828.1(ARID1B):c.6924del (p.Leu2310fs)	ARID1B (L1477fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 2505070	NM_001374828.1(ARID1B):c.6218A>G (p.Asn2073Ser)	ARID1B (N1240S +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	Gnot provided
Select item 2502873	NM_001374828.1(ARID1B):c.1811del (p.Met604fs)	ARID1B (M604fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2500911	NM_001374828.1(ARID1B):c.6359_6360del (p.Lys2120fs)	ARID1B (K1287fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2500910	NM_001374828.1(ARID1B):c.5417dup (p.Leu1806fs)	ARID1B (L1753fs +3 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2500909	NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)	ARID1B (Q1408* +6 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GPathogenic
Select item 2500746	NM_001374828.1(ARID1B):c.2491G>C (p.Gly831Arg)	ARID1B (G690R +4 more)	Single nucleotide variant (missense variant +1 more)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2499570	NM_001374828.1(ARID1B):c.3163_3167dup (p.Ser1056fs)	ARID1B (S1056fs +2 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 2498136	NM_001374828.1(ARID1B):c.6762del (p.Met2255fs)	ARID1B (M1422fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 2444310	NM_001374828.1(ARID1B):c.1853dup (p.His619fs)	ARID1B (H619fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2444268	NM_001374828.1(ARID1B):c.5719_5722del (p.Phe1907fs)	ARID1B (F1074fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2444207	NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter)	ARID1B (E1374* +6 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2444091	NM_001374828.1(ARID1B):c.3933del (p.Leu1312fs)	ARID1B (L1259fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2442373	NM_001374828.1(ARID1B):c.1648C>T (p.Gln550Ter)	ARID1B (Q409* +2 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GPathogenic
Select item 2442088	NM_001374828.1(ARID1B):c.6286del (p.Val2095_Leu2096insTer)	ARID1B	Deletion (frameshift variant +1 more)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2441924	NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter)	ARID1B (S138* +5 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2439196	NM_001374828.1(ARID1B):c.662A>G (p.Asn221Ser)	ARID1B, LOC115308161 (N138S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439195	NM_001374828.1(ARID1B):c.5548G>C (p.Asp1850His)	ARID1B (D1017H +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439193	NM_001374828.1(ARID1B):c.4711A>G (p.Met1571Val)	ARID1B (M1377V +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439192	NM_001374828.1(ARID1B):c.1825C>T (p.Pro609Ser)	ARID1B (P468S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2439191	NM_001374828.1(ARID1B):c.765C>A (p.Asp255Glu)	ARID1B, LOC115308161 +1 more (D114E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439190	NM_001374828.1(ARID1B):c.1312G>A (p.Gly438Ser)	ARID1B (G297S +2 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +1 more	GUncertain significance
Select item 2439189	NM_001374828.1(ARID1B):c.1556G>A (p.Ser519Asn)	ARID1B (S378N +2 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439188	NM_001374828.1(ARID1B):c.2345A>G (p.Gln782Arg)	ARID1B (Q641R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439186	NM_001374828.1(ARID1B):c.591GCA[12] (p.Gln214_His215insGlnGlnGlnGlnGln)	ARID1B, LOC115308161	Microsatellite (inframe_indel +2 more)	not provided +1 more	GUncertain significance
Select item 2439185	NM_001374828.1(ARID1B):c.5923T>C (p.Ser1975Pro)	ARID1B (S1142P +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439184	NM_001374828.1(ARID1B):c.1598C>T (p.Pro533Leu)	ARID1B (P392L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2439183	NM_001374828.1(ARID1B):c.6236C>T (p.Ser2079Leu)	ARID1B (S1246L +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439182	NM_001374828.1(ARID1B):c.765C>G (p.Asp255Glu)	LOC115308161, LOC129997525 +1 more (D114E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2439181	NM_001374828.1(ARID1B):c.6041A>G (p.Asp2014Gly)	ARID1B (D1181G +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439179	NM_001374828.1(ARID1B):c.591GCA[11] (p.Gln214_His215insGlnGlnGlnGln)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +2 more)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439178	NM_001374828.1(ARID1B):c.1213G>C (p.Gly405Arg)	ARID1B (G264R +2 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439177	NM_001374828.1(ARID1B):c.1322A>G (p.Tyr441Cys)	ARID1B (Y300C +2 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439176	NM_001374828.1(ARID1B):c.5926G>T (p.Ala1976Ser)	ARID1B (A1143S +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439175	NM_001374828.1(ARID1B):c.*3T>C	ARID1B	Single nucleotide variant (3 prime UTR variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439174	NM_001374828.1(ARID1B):c.1628_1642dup (p.Ala547_Gly548insAlaGlyAlaAlaAla)	ARID1B	Duplication (inframe_indel +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439173	NM_001374828.1(ARID1B):c.1292C>T (p.Ala431Val)	ARID1B (A290V +2 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439172	NM_001374828.1(ARID1B):c.932C>T (p.Pro311Leu)	ARID1B, LOC129997525 (P170L +2 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439171	NM_001374828.1(ARID1B):c.1451G>T (p.Gly484Val)	ARID1B (G343V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2439170	NM_001374828.1(ARID1B):c.1781G>T (p.Gly594Val)	ARID1B (G453V +2 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439169	NM_001374828.1(ARID1B):c.2882G>A (p.Cys961Tyr)	ARID1B (C128Y +5 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2439168	NM_001374828.1(ARID1B):c.6020G>A (p.Arg2007Gln)	ARID1B (R1174Q +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 2434978	NM_001374828.1(ARID1B):c.612_613insGCAGCAG (p.Gln205fs)	ARID1B, LOC115308161 (Q205fs)	Insertion (non-coding transcript variant +1 more)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2434953	NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter)	ARID1B (Y1325* +6 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2431519	NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter)	ARID1B (W1303* +6 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2431440	NM_001374828.1(ARID1B):c.4232-1G>A	ARID1B	Single nucleotide variant (splice acceptor variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2418189	NM_001374828.1(ARID1B):c.2918G>T (p.Gly973Val)	ARID1B (G140V +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2274329	NM_001374828.1(ARID1B):c.5807A>G (p.Asn1936Ser)	ARID1B (N1742S +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 2240750	NM_001374828.1(ARID1B):c.292A>G (p.Ser98Gly)	ARID1B, LOC115308161 +1 more (S15G +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +2 more	GUncertain significance
Select item 2200478	NM_001374828.1(ARID1B):c.4526G>T (p.Arg1509Leu)	ARID1B (R1456L +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2074544	NM_001374828.1(ARID1B):c.1631_1639del (p.Gly544_Ala546del)	ARID1B	Deletion (inframe_indel +1 more)	Coffin-Siris syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1806346	NM_001374828.1(ARID1B):c.6224T>G (p.Val2075Gly)	ARID1B (V1242G +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 1805809	NM_001374828.1(ARID1B):c.4510G>A (p.Gly1504Arg)	ARID1B (G1310R +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 1805636	NM_001374828.1(ARID1B):c.4395del (p.Pro1464_Tyr1465insTer)	ARID1B	Deletion (frameshift variant +1 more)	Coffin-Siris syndrome 1	GPathogenic
Select item 1805421	NM_001374828.1(ARID1B):c.7030C>T (p.Arg2344Trp)	ARID1B (R1511W +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 1805388	NM_001374828.1(ARID1B):c.3532del (p.Glu1178fs)	ARID1B (E1125fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 1805065	NM_001374828.1(ARID1B):c.4488del (p.Lys1496fs)	ARID1B (K1443fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 1804979	NM_001374828.1(ARID1B):c.6529C>T (p.His2177Tyr)	ARID1B (H1344Y +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 1804915	NM_001374828.1(ARID1B):c.4911dup (p.His1638fs)	ARID1B (H1585fs +3 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 1803187	NM_001374828.1(ARID1B):c.1293_1308del (p.Gly434fs)	ARID1B (G434fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 1803025	NM_001374828.1(ARID1B):c.3261del (p.Met1087fs)	ARID1B (M1087fs +2 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 1802589	NM_001374828.1(ARID1B):c.3589G>A (p.Asp1197Asn)	ARID1B (D1003N +6 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GLikely pathogenic

<< First< Prev

Page of 5