ClinVar for Gene (Select 55102) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321187	NM_018036.7(ATG2B):c.4145T>C (p.Phe1382Ser)	ATG2B (F1382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321180	NM_018036.7(ATG2B):c.308G>A (p.Arg103Gln)	ATG2B (R103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321169	NM_018036.7(ATG2B):c.3140A>G (p.Asn1047Ser)	ATG2B (N1047S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321159	NM_018036.7(ATG2B):c.1961A>C (p.Asn654Thr)	ATG2B (N654T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321147	NM_018036.7(ATG2B):c.143A>G (p.Gln48Arg)	ATG2B (Q48R)	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 3321129	NM_018036.7(ATG2B):c.6157G>C (p.Val2053Leu)	ATG2B (V2053L)	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 3321107	NM_018036.7(ATG2B):c.1288A>G (p.Asn430Asp)	ATG2B (N430D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321097	NM_018036.7(ATG2B):c.3386C>T (p.Pro1129Leu)	ATG2B (P1129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130983	NM_018036.7(ATG2B):c.610G>A (p.Glu204Lys)	ATG2B (E204K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3130978	NM_018036.7(ATG2B):c.4923G>T (p.Gln1641His)	ATG2B (Q1641H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3130975	NM_018036.7(ATG2B):c.4781A>G (p.Asn1594Ser)	ATG2B (N1594S)	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 3130973	NM_018036.7(ATG2B):c.4746T>G (p.Ser1582Arg)	ATG2B (S1582R)	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 3130971	NM_018036.7(ATG2B):c.4585G>A (p.Val1529Ile)	ATG2B (V1529I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3130969	NM_018036.7(ATG2B):c.43C>G (p.Arg15Gly)	ATG2B (R15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130968	NM_018036.7(ATG2B):c.4328T>G (p.Ile1443Ser)	ATG2B (I1443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130967	NM_018036.7(ATG2B):c.4240A>C (p.Ser1414Arg)	ATG2B (S1414R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130966	NM_018036.7(ATG2B):c.4058G>A (p.Cys1353Tyr)	ATG2B (C1353Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130965	NM_018036.7(ATG2B):c.3995A>G (p.Glu1332Gly)	ATG2B (E1332G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130964	NM_018036.7(ATG2B):c.3930G>C (p.Met1310Ile)	ATG2B (M1310I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130963	NM_018036.7(ATG2B):c.3713T>C (p.Phe1238Ser)	ATG2B (F1238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130962	NM_018036.7(ATG2B):c.3415C>T (p.Arg1139Cys)	ATG2B (R1139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130961	NM_018036.7(ATG2B):c.3347G>A (p.Ser1116Asn)	ATG2B (S1116N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130960	NM_018036.7(ATG2B):c.3326G>T (p.Cys1109Phe)	ATG2B (C1109F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130959	NM_018036.7(ATG2B):c.3044A>G (p.Glu1015Gly)	ATG2B (E1015G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130958	NM_018036.7(ATG2B):c.2852A>C (p.Lys951Thr)	ATG2B (K951T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130957	NM_018036.7(ATG2B):c.2831T>A (p.Ile944Asn)	ATG2B (I944N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130956	NM_018036.7(ATG2B):c.2358T>A (p.Asp786Glu)	ATG2B (D786E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130955	NM_018036.7(ATG2B):c.1806G>A (p.Met602Ile)	ATG2B (M602I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130954	NM_018036.7(ATG2B):c.1787G>A (p.Arg596Gln)	ATG2B (R596Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130953	NM_018036.7(ATG2B):c.1784C>T (p.Ser595Phe)	ATG2B (S595F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130952	NM_018036.7(ATG2B):c.170A>G (p.Asn57Ser)	ATG2B (N57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130951	NM_018036.7(ATG2B):c.1639A>C (p.Ile547Leu)	ATG2B (I547L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130950	NM_018036.7(ATG2B):c.1619C>T (p.Ala540Val)	ATG2B (A540V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130949	NM_018036.7(ATG2B):c.1322A>G (p.Tyr441Cys)	ATG2B (Y441C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130948	NM_018036.7(ATG2B):c.1297C>T (p.Leu433Phe)	ATG2B (L433F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130947	NM_018036.7(ATG2B):c.1171T>C (p.Tyr391His)	ATG2B (Y391H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3057870	NM_018036.7(ATG2B):c.4161+4C>T	ATG2B	Single nucleotide variant (intron variant)	ATG2B-related disorder	GLikely benign
Select item 3056752	NM_018036.7(ATG2B):c.3433C>T (p.Pro1145Ser)	ATG2B (P1145S)	Single nucleotide variant (missense variant)	ATG2B-related disorder	GLikely benign
Select item 3056484	NM_018036.7(ATG2B):c.12G>A (p.Pro4=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GBenign
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 3051316	NM_018036.7(ATG2B):c.3266A>G (p.Asn1089Ser)	ATG2B (N1089S)	Single nucleotide variant (missense variant)	ATG2B-related disorder	GLikely benign
Select item 3050648	NM_018036.7(ATG2B):c.925-9T>C	ATG2B	Single nucleotide variant (intron variant)	ATG2B-related disorder	GLikely benign
Select item 3050631	NM_018036.7(ATG2B):c.2289T>G (p.Ser763=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GLikely benign
Select item 3050014	NM_018036.7(ATG2B):c.5219-4del	ATG2B	Deletion (intron variant)	ATG2B-related disorder	GLikely benign
Select item 3046468	NM_018036.7(ATG2B):c.379T>C (p.Leu127=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GLikely benign
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 3045383	NM_018036.7(ATG2B):c.2819C>T (p.Thr940Met)	ATG2B (T940M)	Single nucleotide variant (missense variant)	ATG2B-related disorder	GLikely benign
Select item 3045012	NM_018036.7(ATG2B):c.4079T>C (p.Ile1360Thr)	ATG2B (I1360T)	Single nucleotide variant (missense variant)	ATG2B-related disorder	GBenign
Select item 3043846	NM_018036.7(ATG2B):c.2322A>T (p.Ser774=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GLikely benign
Select item 3042931	NM_018036.7(ATG2B):c.1881+5A>G	ATG2B	Single nucleotide variant (intron variant)	ATG2B-related disorder	GLikely benign
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 3038315	NM_018036.7(ATG2B):c.1374T>C (p.Thr458=)	ATG2B	Single nucleotide variant (synonymous variant)	ATG2B-related disorder	GLikely benign
Select item 3036620	NM_018036.7(ATG2B):c.1405C>G (p.Gln469Glu)	ATG2B (Q469E)	Single nucleotide variant (missense variant)	ATG2B-related disorder	GLikely benign
Select item 3035093	NM_018036.7(ATG2B):c.2438-4_2438-3dup	ATG2B	Duplication (intron variant)	ATG2B-related disorder	GLikely benign
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644499	NM_018036.7(ATG2B):c.4584C>T (p.Pro1528=)	ATG2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623902	NM_018036.7(ATG2B):c.1691G>A (p.Arg564Gln)	ATG2B (R564Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2617911	NM_018036.7(ATG2B):c.4163T>C (p.Val1388Ala)	ATG2B (V1388A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617807	NM_018036.7(ATG2B):c.1538C>G (p.Thr513Ser)	ATG2B (T513S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2613517	NM_018036.7(ATG2B):c.4036A>G (p.Ile1346Val)	ATG2B (I1346V)	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 2608257	NM_018036.7(ATG2B):c.4043C>T (p.Thr1348Met)	ATG2B (T1348M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607507	NM_018036.7(ATG2B):c.3064A>G (p.Thr1022Ala)	ATG2B (T1022A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604861	NM_018036.7(ATG2B):c.953T>C (p.Ile318Thr)	ATG2B (I318T)	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 2597818	NM_018036.7(ATG2B):c.4229G>A (p.Arg1410Gln)	ATG2B (R1410Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595090	NM_018036.7(ATG2B):c.733A>G (p.Thr245Ala)	ATG2B (T245A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2590646	NM_018036.7(ATG2B):c.2689G>C (p.Ala897Pro)	ATG2B (A897P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550265	NM_018036.7(ATG2B):c.3948G>T (p.Glu1316Asp)	ATG2B (E1316D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2541995	NM_018036.7(ATG2B):c.4443G>T (p.Met1481Ile)	ATG2B (M1481I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538755	NM_018036.7(ATG2B):c.475A>G (p.Thr159Ala)	ATG2B (T159A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527389	NM_018036.7(ATG2B):c.3416G>A (p.Arg1139His)	ATG2B (R1139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526449	NM_018036.7(ATG2B):c.1775G>A (p.Arg592Lys)	ATG2B (R592K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495212	NM_018036.7(ATG2B):c.521G>A (p.Arg174Lys)	ATG2B (R174K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487522	NM_018036.7(ATG2B):c.3055G>C (p.Glu1019Gln)	ATG2B (E1019Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473339	NM_018036.7(ATG2B):c.2294A>G (p.Gln765Arg)	ATG2B (Q765R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467998	NM_018036.7(ATG2B):c.3923G>A (p.Arg1308His)	ATG2B (R1308H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462804	NM_018036.7(ATG2B):c.824C>T (p.Pro275Leu)	ATG2B (P275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2455922	NM_018036.7(ATG2B):c.2153A>G (p.His718Arg)	ATG2B (H718R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443262	NM_018036.7(ATG2B):c.714A>G (p.Lys238=)	ATG2B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2443256	NM_018036.7(ATG2B):c.5805G>A (p.Ser1935=)	ATG2B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2443254	NM_018036.7(ATG2B):c.3913+6A>T	ATG2B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2443248	NM_018036.7(ATG2B):c.3782C>T (p.Thr1261Ile)	ATG2B (T1261I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2427518	NC_000014.8:g.(?_95080779)_(97347545_?)dup	AK7, ATG2B +17 more	Duplication	not provided	GUncertain significance

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