ClinVar for Gene (Select 57492) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384099	NM_001374828.1(ARID1B):c.4726C>T (p.Gln1576Ter)	ARID1B (Q1523* +3 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 3383823	NM_001374828.1(ARID1B):c.1669G>A (p.Gly557Ser)	ARID1B (G557S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381704	NM_001374828.1(ARID1B):c.824T>A (p.Met275Lys)	ARID1B, LOC115308161 +1 more (M275K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3378371	NM_001374828.1(ARID1B):c.3235+700C>G	ARID1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3378350	NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[4] (p.His182_Leu183insHisHisHisHisAlaHisHisHisHisHisHisAlaHisHis)	ARID1B, LOC115308161	Microsatellite	not provided	GUncertain significance
Select item 3378319	NM_001374828.1(ARID1B):c.6919C>T (p.Pro2307Ser)	ARID1B (P1474S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378016	NM_001374828.1(ARID1B):c.1616A>T (p.Gln539Leu)	ARID1B (Q539L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377661	NM_001374828.1(ARID1B):c.3906G>C (p.Gln1302His)	ARID1B (Q1249H +3 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 3377138	NM_001374828.1(ARID1B):c.1278_1308del (p.Ala431fs)	ARID1B (A431fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 3376426	NM_001374828.1(ARID1B):c.4479+2T>C	ARID1B	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 3376324	NM_001374828.1(ARID1B):c.1393_1401del (p.Pro465_Gly467del)	ARID1B	Deletion	Coffin-Siris syndrome 1	GUncertain significance
Select item 3375855	NM_001374828.1(ARID1B):c.7109G>C (p.Gly2370Ala)	ARID1B (G1537A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375594	NM_001374828.1(ARID1B):c.6704A>G (p.Tyr2235Cys)	ARID1B (Y1402C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373337	NM_001374828.1(ARID1B):c.2967T>A (p.Ser989Arg)	ARID1B (S1002R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373022	NM_001374828.1(ARID1B):c.6208T>C (p.Cys2070Arg)	ARID1B (C1237R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372744	NM_001374828.1(ARID1B):c.5635_5636del (p.Glu1879fs)	ARID1B (E1046fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3372297	NM_001374828.1(ARID1B):c.4382G>T (p.Arg1461Met)	ARID1B (R1408M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372284	NM_001374828.1(ARID1B):c.2411G>T (p.Gly804Val)	ARID1B (G804V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3372048	NM_001374828.1(ARID1B):c.633G>T (p.Gln211His)	ARID1B, LOC115308161 (Q211H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3371991	NM_001374828.1(ARID1B):c.6748T>G (p.Cys2250Gly)	ARID1B (C1417G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371755	NM_001374828.1(ARID1B):c.6244C>T (p.Pro2082Ser)	ARID1B (P1249S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370895	NM_001374828.1(ARID1B):c.6423G>C (p.Glu2141Asp)	ARID1B (E1308D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370729	NM_001374828.1(ARID1B):c.1157G>T (p.Arg386Leu)	ARID1B (R386L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370305	NM_001374828.1(ARID1B):c.1718G>A (p.Trp573Ter)	ARID1B (W573*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GPathogenic
Select item 3369031	NM_001374828.1(ARID1B):c.3128T>A (p.Met1043Lys)	ARID1B (M1043K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368946	NM_001374828.1(ARID1B):c.2856G>A (p.Met952Ile)	ARID1B (M119I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367985	NM_001374828.1(ARID1B):c.6823C>G (p.Gln2275Glu)	ARID1B (Q1442E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367804	NM_001374828.1(ARID1B):c.6380G>A (p.Gly2127Glu)	ARID1B (G1294E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367619	NM_001374828.1(ARID1B):c.3328C>A (p.Pro1110Thr)	ARID1B (P1110T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367320	NM_001374828.1(ARID1B):c.4993A>G (p.Thr1665Ala)	ARID1B (T1612A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367253	NM_001374828.1(ARID1B):c.495_512dup (p.His170_His171insGlnGlnHisHisHisHis)	ARID1B, LOC115308161	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3367239	NM_001374828.1(ARID1B):c.784C>G (p.Leu262Val)	ARID1B, LOC115308161 +1 more (L262V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3366855	NM_001374828.1(ARID1B):c.6946_6947del (p.Asp2316fs)	ARID1B (D1483fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome	GLikely pathogenic
Select item 3366104	NM_001374828.1(ARID1B):c.1987-29723G>T	ARID1B	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 3365766	NM_001374828.1(ARID1B):c.7097T>C (p.Leu2366Pro)	ARID1B (L1533P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365306	NM_001374828.1(ARID1B):c.743G>A (p.Ser248Asn)	ARID1B, LOC115308161 +1 more (S248N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3364998	NM_001374828.1(ARID1B):c.5289G>T (p.Met1763Ile)	ARID1B (M1710I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364836	NM_001374828.1(ARID1B):c.2544T>G (p.His848Gln)	ARID1B (H15Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364663	NM_001374828.1(ARID1B):c.3920-9_3932dup	ARID1B	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 3364662	NM_001374828.1(ARID1B):c.1483C>T (p.Pro495Ser)	ARID1B (P495S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364569	NM_001374828.1(ARID1B):c.1202G>C (p.Gly401Ala)	ARID1B (G401A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364553	NM_001374828.1(ARID1B):c.5364C>T (p.Asp1788=)	ARID1B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3364523	NM_001374828.1(ARID1B):c.1915C>T (p.Gln639Ter)	ARID1B (Q639*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3364515	NM_001374828.1(ARID1B):c.5319G>C (p.Glu1773Asp)	ARID1B (E1720D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364203	NM_001374828.1(ARID1B):c.2411del (p.Gly804fs)	ARID1B (G804fs +1 more)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 3363951	NM_001374828.1(ARID1B):c.3719A>G (p.Asn1240Ser)	ARID1B (N1187S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363933	NM_001374828.1(ARID1B):c.2549C>T (p.Ala850Val)	ARID1B (A17V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363749	NM_001374828.1(ARID1B):c.2459G>C (p.Arg820Pro)	ARID1B (R820P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3363363	NM_001374828.1(ARID1B):c.262G>A (p.Ala88Thr)	ARID1B, LOC115308161 +1 more (A88T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363259	NM_001374828.1(ARID1B):c.5275G>T (p.Ala1759Ser)	ARID1B (A1706S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362603	NM_001374828.1(ARID1B):c.5979_5982del (p.Lys1994fs)	ARID1B (K1161fs +3 more)	Deletion (frameshift variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic
Select item 3362558	NM_001374828.1(ARID1B):c.6300del (p.Lys2100fs)	ARID1B (K1267fs +3 more)	Deletion (frameshift variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic
Select item 3362375	NM_001374828.1(ARID1B):c.4205dup (p.Asp1403fs)	ARID1B (D1350fs +3 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 3362148	NM_001374828.1(ARID1B):c.3458G>T (p.Ser1153Ile)	ARID1B (S1153I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361835	NM_001374828.1(ARID1B):c.3102C>G (p.Phe1034Leu)	ARID1B (F1034L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361729	NM_001374828.1(ARID1B):c.2812A>G (p.Ser938Gly)	ARID1B (S105G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361433	NM_001374828.1(ARID1B):c.3205_3228dup (p.Ser1076_Ser1077insMetAlaProAlaMetValAsnSer)	ARID1B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3361362	NM_001374828.1(ARID1B):c.628C>T (p.Gln210Ter)	ARID1B (Q210*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3360842	NM_001374828.1(ARID1B):c.832C>G (p.Pro278Ala)	ARID1B (P278A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3360509	NM_001374828.1(ARID1B):c.3729G>C (p.Lys1243Asn)	ARID1B (K1190N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360311	NM_001374828.1(ARID1B):c.1299AGG[3] (p.Gly440_Tyr441insGly)	ARID1B	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3358667	NM_001374828.1(ARID1B):c.1211GAG[13] (p.Gly411_Ala412insGlyGlyGlyGlyGly)	ARID1B	Microsatellite (inframe_insertion)	ARID1B-related disorder	GUncertain significance
Select item 3355364	NM_001374828.1(ARID1B):c.995G>C (p.Gly332Ala)	ARID1B (G332A)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3354725	NM_001374828.1(ARID1B):c.1287G>A (p.Ala429=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3353308	NM_001374828.1(ARID1B):c.1585CCG[4] (p.Pro533del)	ARID1B (P533del)	Microsatellite (inframe_deletion)	ARID1B-related disorder	GLikely benign
Select item 3350588	NM_001374828.1(ARID1B):c.4983G>A (p.Pro1661=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3349920	NM_001374828.1(ARID1B):c.1405G>C (p.Gly469Arg)	ARID1B (G469R)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3349825	NM_001374828.1(ARID1B):c.1080C>T (p.Pro360=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3349537	NM_001374828.1(ARID1B):c.4774A>C (p.Asn1592His)	ARID1B (N1539H +3 more)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3348634	NM_001374828.1(ARID1B):c.2299A>T (p.Ser767Cys)	ARID1B (S767C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	ARID1B-related disorder	GUncertain significance
Select item 3348592	NM_001374828.1(ARID1B):c.4391C>A (p.Pro1464His)	ARID1B (P1411H +3 more)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3347942	NM_001374828.1(ARID1B):c.5620G>T (p.Asp1874Tyr)	ARID1B (D1041Y +3 more)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3347682	NM_001374828.1(ARID1B):c.1533C>T (p.Pro511=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related disorder	GLikely benign
Select item 3345743	NM_001374828.1(ARID1B):c.339C>A (p.Ser113Arg)	ARID1B, LOC115308161 (S113R)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3345536	NM_001374828.1(ARID1B):c.1808C>A (p.Pro603Gln)	ARID1B (P603Q)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3345239	NM_001374828.1(ARID1B):c.1159C>T (p.Pro387Ser)	ARID1B (P387S)	Single nucleotide variant (missense variant)	ARID1B-related disorder	GUncertain significance
Select item 3344815	NM_001374828.1(ARID1B):c.612delinsGCAG (p.Gln214_His215insGln)	ARID1B, LOC115308161	Indel (non-coding transcript variant +1 more)	ARID1B-related disorder	GUncertain significance
Select item 3343821	NM_001374828.1(ARID1B):c.805_813del (p.Asp269_Ala271del)	ARID1B, LOC115308161 +1 more	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3342839	NM_001374828.1(ARID1B):c.4402C>T (p.Gln1468Ter)	ARID1B (Q1415* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3342606	NM_001374828.1(ARID1B):c.770dup (p.Pro260fs)	ARID1B, LOC115308161 +1 more (P260fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 3342345	NM_001374828.1(ARID1B):c.1287_1320del (p.Ala430fs)	ARID1B (A430fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3341981	NM_001374828.1(ARID1B):c.1191C>G (p.Gly397=)	ARID1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341980	NM_001374828.1(ARID1B):c.1190G>A (p.Gly397Asp)	ARID1B (G397D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341915	NM_001374828.1(ARID1B):c.20_21insAGCGGC (p.Ala14_Arg15insAlaAla)	ARID1B, LOC115308161 +1 more	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 3341878	NM_001374828.1(ARID1B):c.44G>C (p.Arg15Pro)	ARID1B, LOC115308161 (R15P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3341877	NM_001374828.1(ARID1B):c.43C>G (p.Arg15Gly)	ARID1B, LOC115308161 (R15G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3341874	NM_001374828.1(ARID1B):c.6082T>G (p.Phe2028Val)	ARID1B (F1195V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341061	NM_001374828.1(ARID1B):c.6929del (p.Leu2310fs)	ARID1B (L1477fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3340979	NM_001374828.1(ARID1B):c.878C>T (p.Thr293Met)	ARID1B, LOC129997525 (T293M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340955	NM_001374828.1(ARID1B):c.6724G>C (p.Val2242Leu)	ARID1B (V1409L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340656	NM_001374828.1(ARID1B):c.595C>T (p.Gln199Ter)	ARID1B, LOC115308161 (Q199*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 3340628	NM_001374828.1(ARID1B):c.3082C>T (p.Gln1028Ter)	ARID1B (Q1028* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3340568	NM_001374828.1(ARID1B):c.1651C>T (p.Gln551Ter)	ARID1B (Q551*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3340070	NM_001374828.1(ARID1B):c.3735G>T (p.Trp1245Cys)	ARID1B (W1192C +3 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 3339984	NM_001374828.1(ARID1B):c.803A>G (p.Glu268Gly)	ARID1B, LOC115308161 +1 more (E268G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3339075	NM_001374828.1(ARID1B):c.1503C>G (p.Thr501=)	ARID1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3337814	NM_001374828.1(ARID1B):c.3263C>T (p.Ser1088Phe)	ARID1B (S1088F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336893	NM_001374828.1(ARID1B):c.1293_1314dup (p.Gly439fs)	ARID1B (G439fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3314442	NM_001374828.1(ARID1B):c.4295T>C (p.Met1432Thr)	ARID1B (M1432T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3314431	NM_001374828.1(ARID1B):c.3022G>A (p.Val1008Met)	ARID1B (V1021M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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