23805[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	ABHD1, ADGRF3 +142 more	Copy number loss	See cases	GUncertain significance
Select item 3063836	NM_018263.6(ASXL2):c.*10A>G	ASXL2	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2906015	NM_018263.6(ASXL2):c.4299C>G (p.Val1433=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2131135	NM_018263.6(ASXL2):c.4285G>A (p.Val1429Ile)	ASXL2 (V1371I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 799516	NM_018263.6(ASXL2):c.4284C>T (p.Cys1428=)	ASXL2	Single nucleotide variant (synonymous variant)	ASXL2-related disorder +1 more	GLikely benign
Select item 2650732	NM_018263.6(ASXL2):c.4281G>C (p.Leu1427=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916008	NM_018263.6(ASXL2):c.4266C>T (p.Ile1422=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3066241	NM_018263.6(ASXL2):c.4262G>C (p.Cys1421Ser)	ASXL2 (C1161S +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 2446307	NM_018263.6(ASXL2):c.4259A>G (p.Asp1420Gly)	ASXL2 (D1160G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726629	NM_018263.6(ASXL2):c.4257T>C (p.Asp1419=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1570326	NM_018263.6(ASXL2):c.4245T>C (p.Ala1415=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738563	NM_018263.6(ASXL2):c.4242C>T (p.Gly1414=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1703089	NM_018263.6(ASXL2):c.4234G>C (p.Gly1412Arg)	ASXL2 (G1152R +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 2780003	NM_018263.6(ASXL2):c.4232A>G (p.Lys1411Arg)	ASXL2 (K1151R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662511	NM_018263.6(ASXL2):c.4232A>T (p.Lys1411Ile)	ASXL2 (K1151I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449235	NM_018263.6(ASXL2):c.4228T>G (p.Cys1410Gly)	ASXL2 (C1410G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2861777	NM_018263.6(ASXL2):c.4224C>G (p.Ile1408Met)	ASXL2 (I1350M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992033	NM_018263.6(ASXL2):c.4194G>A (p.Ser1398=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732358	NM_018263.6(ASXL2):c.4188G>A (p.Thr1396=)	ASXL2	Single nucleotide variant (synonymous variant)	ASXL2-related disorder +1 more	GBenign/Likely benign
Select item 2055420	NM_018263.6(ASXL2):c.4187C>T (p.Thr1396Met)	ASXL2 (T1136M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2338572	NM_018263.6(ASXL2):c.4183G>A (p.Gly1395Ser)	ASXL2 (G1135S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063746	NM_018263.6(ASXL2):c.4170G>C (p.Glu1390Asp)	ASXL2 (E1130D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650733	NM_018263.6(ASXL2):c.4167A>G (p.Glu1389=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2552510	NM_018263.6(ASXL2):c.4165G>A (p.Glu1389Lys)	ASXL2 (E1331K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 736445	NM_018263.6(ASXL2):c.4164C>T (p.Ser1388=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2176355	NM_018263.6(ASXL2):c.4158G>A (p.Ala1386=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737525	NM_018263.6(ASXL2):c.4157C>T (p.Ala1386Val)	ASXL2 (A1126V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2026630	NM_018263.6(ASXL2):c.4134T>C (p.His1378=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 634618	NM_018263.6(ASXL2):c.4118T>C (p.Met1373Thr)	ASXL2 (M1373T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2300415	NM_018263.6(ASXL2):c.4117A>G (p.Met1373Val)	ASXL2 (M1113V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1920162	NM_018263.6(ASXL2):c.4115C>G (p.Ala1372Gly)	ASXL2 (A1372G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354065	NM_018263.6(ASXL2):c.4115C>T (p.Ala1372Val)	ASXL2 (A1314V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377157	NM_018263.6(ASXL2):c.4111C>A (p.Gln1371Lys)	ASXL2 (Q1371K +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome +1 more	GBenign/Likely benign
Select item 1184384	NM_018263.6(ASXL2):c.4105G>T (p.Ala1369Ser)	ASXL2 (A1109S +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 737297	NM_018263.6(ASXL2):c.4089T>C (p.Thr1363=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659220	NM_018263.6(ASXL2):c.4068T>C (p.Asp1356=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2439278	NM_018263.6(ASXL2):c.4061T>C (p.Val1354Ala)	ASXL2 (V1094A +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 2066896	NM_018263.6(ASXL2):c.4047G>C (p.Gln1349His)	ASXL2 (Q1089H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801919	NM_018263.6(ASXL2):c.4042A>G (p.Ser1348Gly)	ASXL2 (S1290G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2608255	NM_018263.6(ASXL2):c.4030G>A (p.Ala1344Thr)	ASXL2 (A1084T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1362529	NM_018263.6(ASXL2):c.4026C>G (p.Asn1342Lys)	ASXL2 (N1342K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479143	NM_018263.6(ASXL2):c.4015A>G (p.Met1339Val)	ASXL2 (M1281V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1480969	NM_018263.6(ASXL2):c.4012G>A (p.Asp1338Asn)	ASXL2 (D1338N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464930	NM_018263.6(ASXL2):c.4000T>G (p.Ser1334Ala)	ASXL2 (S1074A +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome +2 more	GUncertain significance
Select item 1927236	NM_018263.6(ASXL2):c.3995A>G (p.Asn1332Ser)	ASXL2 (N1332S +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3130607	NM_018263.6(ASXL2):c.3994A>T (p.Asn1332Tyr)	ASXL2 (N1072Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2796532	NM_018263.6(ASXL2):c.3975A>G (p.Pro1325=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376565	NM_018263.6(ASXL2):c.3974C>G (p.Pro1325Arg)	ASXL2 (P1065R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378717	NM_018263.6(ASXL2):c.3971G>A (p.Gly1324Glu)	ASXL2 (G1064E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234480	NM_018263.6(ASXL2):c.3962C>A (p.Thr1321Asn)	ASXL2 (T1061N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747513	NM_018263.6(ASXL2):c.3948G>A (p.Leu1316=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613394	NM_018263.6(ASXL2):c.3941C>T (p.Pro1314Leu)	ASXL2 (P1314L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032033	NM_018263.6(ASXL2):c.3932T>G (p.Leu1311Arg)	ASXL2 (L1311R +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 2184820	NM_018263.6(ASXL2):c.3918A>C (p.Leu1306=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728705	NM_018263.6(ASXL2):c.3909C>T (p.His1303=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2608912	NM_018263.6(ASXL2):c.3904A>G (p.Thr1302Ala)	ASXL2 (T1244A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2416837	NM_018263.6(ASXL2):c.3900C>T (p.Ser1300=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2227716	NM_018263.6(ASXL2):c.3892G>C (p.Ala1298Pro)	ASXL2 (A1240P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2878519	NM_018263.6(ASXL2):c.3890C>T (p.Pro1297Leu)	ASXL2 (P1239L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978679	NM_018263.6(ASXL2):c.3890C>A (p.Pro1297His)	ASXL2 (P1037H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2688621	NM_018263.6(ASXL2):c.3869G>A (p.Ser1290Asn)	ASXL2 (S1030N +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 1383623	NM_018263.6(ASXL2):c.3848G>A (p.Arg1283His)	ASXL2 (R1225H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2427929	NM_018263.6(ASXL2):c.3847C>T (p.Arg1283Cys)	ASXL2 (R1023C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2138514	NM_018263.6(ASXL2):c.3844A>T (p.Ile1282Phe)	ASXL2 (I1022F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2555227	NM_018263.6(ASXL2):c.3839A>C (p.Lys1280Thr)	ASXL2 (K1280T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1722442	NM_018263.6(ASXL2):c.3839A>T (p.Lys1280Met)	ASXL2 (K1020M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2071249	NM_018263.6(ASXL2):c.3830T>C (p.Val1277Ala)	ASXL2 (V1219A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2231804	NM_018263.6(ASXL2):c.3829G>C (p.Val1277Leu)	ASXL2 (V1017L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1384509	NM_018263.6(ASXL2):c.3819G>A (p.Met1273Ile)	ASXL2 (M1013I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138515	NM_018263.6(ASXL2):c.3816G>T (p.Gln1272His)	ASXL2 (Q1214H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840586	NM_018263.6(ASXL2):c.3815A>T (p.Gln1272Leu)	ASXL2 (Q1272L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1311054	NM_018263.6(ASXL2):c.3808C>T (p.Gln1270Ter)	ASXL2 (Q1010* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2015992	NM_018263.6(ASXL2):c.3796A>G (p.Ile1266Val)	ASXL2 (I1006V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062134	NM_018263.6(ASXL2):c.3784G>T (p.Ala1262Ser)	ASXL2 (A1002S +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 3130605	NM_018263.6(ASXL2):c.3770A>G (p.Asp1257Gly)	ASXL2 (D1199G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319417	NM_018263.6(ASXL2):c.3757G>A (p.Gly1253Ser)	ASXL2 (G993S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3055042	NM_018263.6(ASXL2):c.3747G>C (p.Leu1249=)	ASXL2	Single nucleotide variant (synonymous variant)	ASXL2-related disorder	GLikely benign
Select item 1508151	NM_018263.6(ASXL2):c.3731G>A (p.Ser1244Asn)	ASXL2 (S1186N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2481931	NM_018263.6(ASXL2):c.3722C>T (p.Thr1241Ile)	ASXL2 (T1183I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1542974	NM_018263.6(ASXL2):c.3709T>C (p.Leu1237=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974268	NM_018263.6(ASXL2):c.3707C>T (p.Pro1236Leu)	ASXL2 (P976L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688622	NM_018263.6(ASXL2):c.3706C>T (p.Pro1236Ser)	ASXL2 (P1178S +2 more)	Single nucleotide variant (missense variant)	Shashi-Pena syndrome	GUncertain significance
Select item 453014	NM_018263.6(ASXL2):c.3701A>C (p.Glu1234Ala)	ASXL2 (E1234A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1579392	NM_018263.6(ASXL2):c.3699T>A (p.Ala1233=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783972	NM_018263.6(ASXL2):c.3674G>C (p.Cys1225Ser)	ASXL2 (C1167S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1409246	NM_018263.6(ASXL2):c.3671A>T (p.Asp1224Val)	ASXL2 (D964V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1915665	NM_018263.6(ASXL2):c.3660A>G (p.Leu1220=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2058632	NM_018263.6(ASXL2):c.3650G>A (p.Arg1217Lys)	ASXL2 (R957K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2310064	NM_018263.6(ASXL2):c.3641C>A (p.Pro1214His)	ASXL2 (P954H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2693743	NM_018263.6(ASXL2):c.3627C>T (p.Asp1209=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3130604	NM_018263.6(ASXL2):c.3623G>T (p.Gly1208Val)	ASXL2 (G1150V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1455264	NM_018263.6(ASXL2):c.3597C>T (p.Pro1199=)	ASXL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2227183	NM_018263.6(ASXL2):c.3590A>G (p.Glu1197Gly)	ASXL2 (E1197G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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