ClinVar for Gene (Select 57492) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255196	NM_001374828.1(ARID1B):c.2254_2257del (p.Ser752fs)	ARID1B (S752fs +1 more)	Microsatellite (5 prime UTR variant +1 more)	Coffin-Siris syndrome 1	GPathogenic
Select item 3254957	NM_001374828.1(ARID1B):c.4442_4443dup (p.Gly1482fs)	ARID1B (G1429fs +3 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 3254955	NM_001374828.1(ARID1B):c.2187del (p.Gly730fs)	ARID1B (G730fs +1 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 3254706	NM_001374828.1(ARID1B):c.1729C>T (p.Gln577Ter)	ARID1B (Q577*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GPathogenic
Select item 3254704	NM_001374828.1(ARID1B):c.3924dup (p.Ser1309fs)	ARID1B (S1256fs +3 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 3253292	NM_001374828.1(ARID1B):c.1569C>A (p.Tyr523Ter)	ARID1B (Y523*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3253198	NM_001374828.1(ARID1B):c.1616A>G (p.Gln539Arg)	ARID1B (Q539R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252343	NM_001374828.1(ARID1B):c.5233C>T (p.Gln1745Ter)	ARID1B (Q1692* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3252257	NM_001374828.1(ARID1B):c.6227G>C (p.Arg2076Pro)	ARID1B (R1243P +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3251309	NM_001374828.1(ARID1B):c.6157C>T (p.Pro2053Ser)	ARID1B (P1220S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250872	NM_001374828.1(ARID1B):c.141GGC[8] (p.Ala53_Pro54insAlaAla)	ARID1B, LOC115308161	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3250861	NM_001374828.1(ARID1B):c.1628_1642del (p.Ala543_Ala547del)	ARID1B	Deletion (inframe_indel +1 more)	not provided	GLikely benign
Select item 3248630	NM_001374828.1(ARID1B):c.6362_6363del (p.Glu2121fs)	ARID1B (E1288fs +3 more)	Microsatellite (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 3246236	NC_000006.11:g.(?_157405776)_(157431715_?)dup	ARID1B	Duplication	not provided	GLikely pathogenic
Select item 3242298	GRCh37/hg19 6q25.3(chr6:157438634-157469535)x1	ARID1B	Copy number loss	not provided	GUncertain significance
Select item 3239562	NM_001374828.1(ARID1B):c.5914C>G (p.Pro1972Ala)	ARID1B (P1139A +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3239148	NM_001374828.1(ARID1B):c.903C>G (p.Pro301=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236713	NM_001374828.1(ARID1B):c.4889del (p.Asn1630fs)	ARID1B (N1577fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 3236712	NM_001374828.1(ARID1B):c.7052C>A (p.Ser2351Ter)	ARID1B (S1518* +6 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 3236222	NM_001374828.1(ARID1B):c.6451_6453del (p.Leu2151del)	ARID1B (L1318del +6 more)	Deletion (inframe_indel +1 more)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 3234615	NM_001374828.1(ARID1B):c.379G>T (p.Ala127Ser)	ARID1B, LOC115308161 (A127S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234607	NM_001374828.1(ARID1B):c.2076C>T (p.His692=)	ARID1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233399	NM_001374828.1(ARID1B):c.5276dup (p.Trp1760fs)	ARID1B (W1707fs +3 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3129411	NM_001374828.1(ARID1B):c.1190G>C (p.Gly397Ala)	ARID1B (G314A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3129410	NM_001374828.1(ARID1B):c.326A>C (p.Lys109Thr)	ARID1B, LOC115308161 +1 more (K26T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3129408	NM_001374828.1(ARID1B):c.6421G>A (p.Glu2141Lys)	ARID1B (E2018K +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129407	NM_001374828.1(ARID1B):c.6083T>C (p.Phe2028Ser)	ARID1B (F1905S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129406	NM_001374828.1(ARID1B):c.797G>T (p.Gly266Val)	ARID1B, LOC115308161 +1 more (G125V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3129405	NM_001374828.1(ARID1B):c.793C>T (p.Pro265Ser)	ARID1B, LOC115308161 +1 more (P182S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3129404	NM_001374828.1(ARID1B):c.5734A>G (p.Ile1912Val)	ARID1B (I1829V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129403	NM_001374828.1(ARID1B):c.5714G>T (p.Ser1905Ile)	ARID1B (S1711I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129402	NM_001374828.1(ARID1B):c.5135C>T (p.Thr1712Ile)	ARID1B (T1518I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129401	NM_001374828.1(ARID1B):c.5120T>C (p.Met1707Thr)	ARID1B (M1654T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129400	NM_001374828.1(ARID1B):c.4463T>C (p.Leu1488Pro)	ARID1B (L1405P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129398	NM_001374828.1(ARID1B):c.3193C>G (p.Pro1065Ala)	ARID1B (P1078A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129397	NM_001374828.1(ARID1B):c.3053dup (p.Val1019fs)	ARID1B (V186fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3129395	NM_001374828.1(ARID1B):c.1757C>T (p.Pro586Leu)	ARID1B (P503L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129394	NM_001374828.1(ARID1B):c.374C>T (p.Ala125Val)	ARID1B, LOC115308161 (A42V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3069187	NM_001374828.1(ARID1B):c.3967dup (p.Ser1323fs)	ARID1B (S1270fs +3 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 3068962	NM_001374828.1(ARID1B):c.410G>C (p.Gly137Ala)	ARID1B, LOC115308161 +1 more (G137A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067616	NM_001374828.1(ARID1B):c.5255A>G (p.Lys1752Arg)	ARID1B (K1558R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067386	NM_001374828.1(ARID1B):c.756C>T (p.Gly252=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3067351	NM_001374828.1(ARID1B):c.2518G>T (p.Gly840Trp)	ARID1B (G699W +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067216	NM_001374828.1(ARID1B):c.621G>A (p.Gln207=)	ARID1B, LOC115308161	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 3062918	GRCh37/hg19 6q25.3(chr6:156511986-157377251)x1	ARID1B	Copy number loss	not specified	GPathogenic
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 3061464	NM_001374828.1(ARID1B):c.4524G>A (p.Lys1508=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3061378	NM_001374828.1(ARID1B):c.2662C>T (p.Pro888Ser)	ARID1B (P55S +5 more)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3061083	NM_001374828.1(ARID1B):c.6169A>T (p.Ile2057Phe)	ARID1B (I1224F +6 more)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3060436	NM_001374828.1(ARID1B):c.1635G>T (p.Ala545=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3060140	NM_001374828.1(ARID1B):c.1629G>T (p.Ala543=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3059337	NM_001374828.1(ARID1B):c.966T>G (p.Pro322=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3058452	NM_001374828.1(ARID1B):c.495G>A (p.Gln165=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3058064	NM_001374828.1(ARID1B):c.7053A>G (p.Ser2351=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3057572	NM_001374828.1(ARID1B):c.360C>T (p.Ser120=)	ARID1B, LOC115308161	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3056657	NM_001374828.1(ARID1B):c.1281GGC[3] (p.Ala433del)	ARID1B (A292del +2 more)	Microsatellite (inframe_indel +1 more)	ARID1B-related disorder	GLikely benign
Select item 3055605	NM_001374828.1(ARID1B):c.3927G>A (p.Ser1309=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3055171	NM_001374828.1(ARID1B):c.1679A>G (p.Lys560Arg)	ARID1B (K419R +2 more)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3052352	NM_001374828.1(ARID1B):c.2247+35367del	ARID1B	Deletion (intron variant)	ARID1B-related disorder	GLikely benign
Select item 3052126	NM_001374828.1(ARID1B):c.900G>C (p.Val300=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3047726	NM_001374828.1(ARID1B):c.3089+4_3089+5insCTAC	ARID1B	Insertion (splice donor variant)	ARID1B-related disorder	GLikely benign
Select item 3046610	NM_001374828.1(ARID1B):c.655A>G (p.Asn219Asp)	ARID1B, LOC115308161 (N136D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ARID1B-related disorder	GUncertain significance
Select item 3045815	NM_001374828.1(ARID1B):c.918C>A (p.Gly306=)	ARID1B, LOC129997525	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3041955	NM_001374828.1(ARID1B):c.1587G>C (p.Pro529=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3041318	NM_001374828.1(ARID1B):c.1590G>C (p.Pro530=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3041259	NM_001374828.1(ARID1B):c.3698T>G (p.Ile1233Ser)	ARID1B (I1039S +6 more)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3037585	NM_001374828.1(ARID1B):c.4280G>T (p.Ser1427Ile)	ARID1B (S1233I +6 more)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3037469	NM_001374828.1(ARID1B):c.1623G>T (p.Ala541=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3036623	NM_001374828.1(ARID1B):c.1245AGGAGC[1] (p.416GA[2])	ARID1B	Microsatellite (inframe_indel +1 more)	ARID1B-related disorder	GUncertain significance
Select item 3036532	NM_001374828.1(ARID1B):c.269C>G (p.Ala90Gly)	ARID1B, LOC115308161 +1 more (A7G +1 more)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3036044	NM_001374828.1(ARID1B):c.1986+10G>A	ARID1B	Single nucleotide variant (intron variant)	ARID1B-related disorder	GLikely benign
Select item 3035027	NM_001374828.1(ARID1B):c.5832C>T (p.Leu1944=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3034313	NM_001374828.1(ARID1B):c.1188C>A (p.Gly396=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3033522	NM_001374828.1(ARID1B):c.1340G>A (p.Gly447Glu)	ARID1B (G306E +2 more)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3032841	NM_001374828.1(ARID1B):c.660C>T (p.Asn220=)	ARID1B, LOC115308161	Single nucleotide variant (non-coding transcript variant +1 more)	ARID1B-related disorder	GLikely benign
Select item 3032044	NM_001374828.1(ARID1B):c.808G>A (p.Asp270Asn)	ARID1B, LOC115308161 +1 more (D129N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ARID1B-related disorder	GUncertain significance
Select item 3030681	NM_001374828.1(ARID1B):c.2761+7C>T	ARID1B	Single nucleotide variant (intron variant)	ARID1B-related disorder	GLikely benign
Select item 3030288	NM_001374828.1(ARID1B):c.1602G>T (p.Ser534=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3029271	NM_001374828.1(ARID1B):c.7095A>G (p.Val2365=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
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 3027312	NM_001374828.1(ARID1B):c.3830G>A (p.Cys1277Tyr)	ARID1B (C1083Y +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026818	NM_001374828.1(ARID1B):c.2054G>C (p.Ser685Thr)	ARID1B (S544T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026743	NM_001374828.1(ARID1B):c.1608C>A (p.Pro536=)	ARID1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026329	NM_001374828.1(ARID1B):c.6996C>T (p.Asp2332=)	ARID1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025997	NM_001374828.1(ARID1B):c.1700C>T (p.Ala567Val)	ARID1B (A426V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025317	NM_001374828.1(ARID1B):c.1247G>C (p.Gly416Ala)	ARID1B (G275A +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3021362	NM_001374828.1(ARID1B):c.4639C>A (p.Pro1547Thr)	ARID1B (P1424T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020666	NM_001374828.1(ARID1B):c.6814A>G (p.Ile2272Val)	ARID1B (I1439V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020027	NM_001374828.1(ARID1B):c.1986+14C>G	ARID1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019547	NM_001374828.1(ARID1B):c.2581+4C>T	ARID1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3019133	NM_001374828.1(ARID1B):c.2381_2382delinsTA (p.Ala794Val)	ARID1B (A711V +4 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3017345	NM_001374828.1(ARID1B):c.1199G>A (p.Gly400Glu)	ARID1B (G317E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017269	NM_001374828.1(ARID1B):c.750G>A (p.Ala250=)	ARID1B, LOC115308161 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3016183	NM_001374828.1(ARID1B):c.5418A>G (p.Leu1806=)	ARID1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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