ATG2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC132090296, LOC132090297 +1422 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	LOC130056647, LOC130056648 +1203 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056481, LOC130056482 +1072 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 208237	NC_000014.9:g.95696766_96390792dup	LOC126862036, LOC126862037 +30 more	Duplication	Thrombocythemia 1 +2 more	GLikely pathogenic
Select item 58336	GRCh38/hg38 14q32.13-32.2(chr14:95787358-96453757)x3	AK7, ATG2B +20 more	Copy number gain	See cases	GUncertain significance
Select item 2267048	NM_018036.7(ATG2B):c.6205G>A (p.Glu2069Lys)	ATG2B (E2069K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337707	NM_018036.7(ATG2B):c.6168C>T (p.Gly2056=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder +1 more	GLikely benign
Select item 3321129	NM_018036.7(ATG2B):c.6157G>C (p.Val2053Leu)	ATG2B (V2053L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296117	NM_018036.7(ATG2B):c.6157G>A (p.Val2053Met)	ATG2B (V2053M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039091	NM_018036.7(ATG2B):c.6150G>A (p.Thr2050=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GLikely benign
Select item 2348251	NM_018036.7(ATG2B):c.6106C>G (p.Pro2036Ala)	ATG2B (P2036A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271404	NM_018036.7(ATG2B):c.6098G>A (p.Arg2033His)	ATG2B (R2033H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288402	NM_018036.7(ATG2B):c.6029C>G (p.Thr2010Ser)	ATG2B (T2010S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1282005	NM_018036.7(ATG2B):c.6007-233G>A	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280979	NM_018036.7(ATG2B):c.6007-262C>T	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270419	NM_018036.7(ATG2B):c.6006+274C>T	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228350	NM_018036.7(ATG2B):c.6006+184T>C	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2614785	NM_018036.7(ATG2B):c.5984A>G (p.Lys1995Arg)	ATG2B (K1995R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045990	NM_018036.7(ATG2B):c.5941C>G (p.Arg1981Gly)	ATG2B (R1981G)	Single nucleotide variant (missense variant)	ATG2B-related disorder	GLikely benign
Select item 2397348	NM_018036.7(ATG2B):c.5932C>T (p.Pro1978Ser)	ATG2B (P1978S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326871	NM_018036.7(ATG2B):c.5929T>G (p.Phe1977Val)	ATG2B (F1977V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735075	NM_018036.7(ATG2B):c.5905A>G (p.Ile1969Val)	ATG2B (I1969V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1230270	NM_018036.7(ATG2B):c.5857-183T>A	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3130982	NM_018036.7(ATG2B):c.5835C>A (p.Asn1945Lys)	ATG2B (N1945K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443256	NM_018036.7(ATG2B):c.5805G>A (p.Ser1935=)	ATG2B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2379585	NM_018036.7(ATG2B):c.5759G>A (p.Arg1920His)	ATG2B (R1920H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1260376	NM_018036.7(ATG2B):c.5702-46A>G	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2299671	NM_018036.7(ATG2B):c.5683C>T (p.His1895Tyr)	ATG2B (H1895Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321136	NM_018036.7(ATG2B):c.5611G>T (p.Ala1871Ser)	ATG2B (A1871S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370082	NM_018036.7(ATG2B):c.5590G>A (p.Val1864Ile)	ATG2B (V1864I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1282199	NM_018036.7(ATG2B):c.5580-89A>T	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2346236	NM_018036.7(ATG2B):c.5558A>G (p.Lys1853Arg)	ATG2B (K1853R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239224	NM_018036.7(ATG2B):c.5531A>G (p.Gln1844Arg)	ATG2B (Q1844R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1242144	NM_018036.7(ATG2B):c.5497-141G>A	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2460103	NM_018036.7(ATG2B):c.5441C>T (p.Thr1814Met)	ATG2B (T1814M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1263262	NM_018036.7(ATG2B):c.5427-230C>T	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249043	NM_018036.7(ATG2B):c.5426+211C>G	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3130980	NM_018036.7(ATG2B):c.5387C>T (p.Ala1796Val)	ATG2B (A1796V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130979	NM_018036.7(ATG2B):c.5282A>T (p.Glu1761Val)	ATG2B (E1761V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321118	NM_018036.7(ATG2B):c.5278A>C (p.Lys1760Gln)	ATG2B (K1760Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337833	NM_018036.7(ATG2B):c.5278A>G (p.Lys1760Glu)	ATG2B (K1760E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612337	NM_018036.7(ATG2B):c.5264A>G (p.His1755Arg)	ATG2B (H1755R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050014	NM_018036.7(ATG2B):c.5219-4del	ATG2B	Deletion (intron variant)	ATG2B-related disorder	GLikely benign
Select item 1183682	NM_018036.7(ATG2B):c.5219-10A>T	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286296	NM_018036.7(ATG2B):c.5219-53T>G	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2548590	NM_018036.7(ATG2B):c.5212C>T (p.Pro1738Ser)	ATG2B (P1738S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1283616	NM_018036.7(ATG2B):c.5140-40T>C	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252959	NM_018036.7(ATG2B):c.5139+28G>A	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 789063	NM_018036.7(ATG2B):c.5139+9C>T	ATG2B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3058524	NM_018036.7(ATG2B):c.5109G>A (p.Ser1703=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GLikely benign
Select item 1281030	NM_018036.7(ATG2B):c.5103A>C (p.Arg1701Ser)	ATG2B (R1701S)	Single nucleotide variant (missense variant)	ATG2B-related disorder +1 more	GBenign
Select item 2360832	NM_018036.7(ATG2B):c.5059G>A (p.Val1687Met)	ATG2B (V1687M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1255240	NM_018036.7(ATG2B):c.5058C>T (p.His1686=)	ATG2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2617970	NM_018036.7(ATG2B):c.5051C>G (p.Ala1684Gly)	ATG2B (A1684G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1286710	NM_018036.7(ATG2B):c.5038-78dup	ATG2B	Duplication (intron variant)	not provided	GBenign
Select item 1261427	NM_018036.7(ATG2B):c.5038-228G>A	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252206	NM_018036.7(ATG2B):c.5038-306T>A	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256662	NM_018036.7(ATG2B):c.5037+165T>C	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274266	NM_018036.7(ATG2B):c.5037+18C>T	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2590973	NM_018036.7(ATG2B):c.5033A>G (p.Asn1678Ser)	ATG2B (N1678S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130978	NM_018036.7(ATG2B):c.4923G>T (p.Gln1641His)	ATG2B (Q1641H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789064	NM_018036.7(ATG2B):c.4899C>T (p.Leu1633=)	ATG2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 775103	NM_018036.7(ATG2B):c.4869G>A (p.Pro1623=)	ATG2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3130976	NM_018036.7(ATG2B):c.4868C>T (p.Pro1623Leu)	ATG2B (P1623L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1296550	NM_018036.7(ATG2B):c.4843-9C>T	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282415	NM_018036.7(ATG2B):c.4842+112A>C	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2217000	NM_018036.7(ATG2B):c.4811A>G (p.His1604Arg)	ATG2B (H1604R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130975	NM_018036.7(ATG2B):c.4781A>G (p.Asn1594Ser)	ATG2B (N1594S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355845	NM_018036.7(ATG2B):c.4777C>T (p.Arg1593Cys)	ATG2B (R1593C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338200	NM_018036.7(ATG2B):c.4766C>A (p.Thr1589Lys)	ATG2B (T1589K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130974	NM_018036.7(ATG2B):c.4762C>A (p.Pro1588Thr)	ATG2B (P1588T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293212	NM_018036.7(ATG2B):c.4748C>T (p.Ser1583Leu)	ATG2B (S1583L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130973	NM_018036.7(ATG2B):c.4746T>G (p.Ser1582Arg)	ATG2B (S1582R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288566	NM_018036.7(ATG2B):c.4734-26dup	ATG2B	Duplication (intron variant)	not provided	GBenign
Select item 1268750	NM_018036.7(ATG2B):c.4734-14_4734-13del	ATG2B	Deletion (intron variant)	not provided	GBenign
Select item 1281336	NM_018036.7(ATG2B):c.4734-190G>A	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2345415	NM_018036.7(ATG2B):c.4706C>T (p.Pro1569Leu)	ATG2B (P1569L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130972	NM_018036.7(ATG2B):c.4640G>A (p.Arg1547His)	ATG2B (R1547H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604440	NM_018036.7(ATG2B):c.4630C>T (p.Pro1544Ser)	ATG2B (P1544S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341375	NM_018036.7(ATG2B):c.4605C>G (p.Ser1535Arg)	ATG2B (S1535R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051990	NM_018036.7(ATG2B):c.4602G>A (p.Thr1534=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GLikely benign
Select item 1337047	NM_018036.7(ATG2B):c.4600A>T (p.Thr1534Ser)	ATG2B (T1534S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1337985	NM_018036.7(ATG2B):c.4596C>T (p.Thr1532=)	ATG2B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3130971	NM_018036.7(ATG2B):c.4585G>A (p.Val1529Ile)	ATG2B (V1529I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644499	NM_018036.7(ATG2B):c.4584C>T (p.Pro1528=)	ATG2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337984	NM_018036.7(ATG2B):c.4568A>G (p.Asn1523Ser)	ATG2B (N1523S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1177749	NM_018036.7(ATG2B):c.4507-178T>G	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273785	NM_018036.7(ATG2B):c.4506+179_4506+180insCTC	ATG2B	Insertion (intron variant)	not provided	GBenign
Select item 1250422	NM_018036.7(ATG2B):c.4506+144G>T	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247185	NM_018036.7(ATG2B):c.4506+125del	ATG2B	Deletion (intron variant)	not provided	GBenign
Select item 1240741	NM_018036.7(ATG2B):c.4506+124_4506+125del	ATG2B	Deletion (intron variant)	not provided	GBenign
Select item 1288457	NM_018036.7(ATG2B):c.4506+109G>A	ATG2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265316	NM_018036.7(ATG2B):c.4506+46dup	ATG2B	Duplication (intron variant)	not provided	GBenign
Select item 3130970	NM_018036.7(ATG2B):c.4499C>T (p.Ala1500Val)	ATG2B (A1500V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541995	NM_018036.7(ATG2B):c.4443G>T (p.Met1481Ile)	ATG2B (M1481I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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