ClinVar for Gene (Select 26046) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292297	NM_015565.3(LTN1):c.1454A>G (p.Asn485Ser)	LTN1 (N485S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292296	NM_015565.3(LTN1):c.3893A>G (p.Asn1298Ser)	LTN1 (N1284S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292295	NM_015565.3(LTN1):c.1841T>C (p.Leu614Pro)	LTN1 (L614P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292294	NM_015565.3(LTN1):c.2900A>C (p.His967Pro)	LTN1 (H953P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292293	NM_015565.3(LTN1):c.2068C>T (p.Arg690Trp)	LTN1 (R690W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292292	NM_015565.3(LTN1):c.3964A>C (p.Ile1322Leu)	LTN1 (I1308L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3121515	NM_015565.3(LTN1):c.4522A>G (p.Ser1508Gly)	LTN1 (S1494G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121514	NM_015565.3(LTN1):c.4510C>T (p.Arg1504Trp)	LTN1 (R1490W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121513	NM_015565.3(LTN1):c.4207C>T (p.His1403Tyr)	LTN1 (H1389Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121512	NM_015565.3(LTN1):c.4141A>G (p.Thr1381Ala)	LTN1 (T1381A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121511	NM_015565.3(LTN1):c.3899C>A (p.Pro1300His)	LTN1 (P1286H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121510	NM_015565.3(LTN1):c.3840G>C (p.Leu1280Phe)	LTN1 (L1280F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121509	NM_015565.3(LTN1):c.3775A>G (p.Ser1259Gly)	LTN1 (S1245G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121508	NM_015565.3(LTN1):c.3296G>A (p.Arg1099Gln)	LTN1 (R1099Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121506	NM_015565.3(LTN1):c.3163C>A (p.Gln1055Lys)	LTN1 (Q1055K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121505	NM_015565.3(LTN1):c.3140T>G (p.Leu1047Arg)	LTN1 (L1033R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121504	NM_015565.3(LTN1):c.2921G>T (p.Arg974Ile)	LTN1 (R960I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121503	NM_015565.3(LTN1):c.2215G>C (p.Asp739His)	LTN1 (D725H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121502	NM_015565.3(LTN1):c.2086A>T (p.Met696Leu)	LTN1 (M696L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121501	NM_015565.3(LTN1):c.1823G>A (p.Arg608Gln)	LTN1 (R608Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121500	NM_015565.3(LTN1):c.1327G>A (p.Asp443Asn)	LTN1 (D443N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121499	NM_015565.3(LTN1):c.1000G>A (p.Val334Ile)	LTN1 (V334I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 2684913	GRCh37/hg19 21q21.1-21.3(chr21:21437700-30474088)x3	ADAMTS1, ADAMTS5 +14 more	Copy number gain	not provided	GPathogenic
Select item 2684912	GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3	N6AMT1, NCAM2 +52 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652579	NM_015565.3(LTN1):c.1533C>T (p.Ser511=)	LTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616858	NM_015565.3(LTN1):c.3710C>A (p.Ser1237Tyr)	LTN1 (S1223Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604505	NM_015565.3(LTN1):c.2275T>A (p.Ser759Thr)	LTN1 (S759T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603510	NM_015565.3(LTN1):c.4330A>G (p.Ile1444Val)	LTN1 (I1444V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600273	NM_015565.3(LTN1):c.3930T>G (p.Phe1310Leu)	LTN1 (F1310L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599801	NM_015565.3(LTN1):c.1653G>C (p.Glu551Asp)	LTN1 (E551D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593359	NM_015565.3(LTN1):c.1418C>T (p.Thr473Met)	LTN1 (T473M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592355	NM_015565.3(LTN1):c.1781T>C (p.Val594Ala)	LTN1 (V594A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588643	NM_015565.3(LTN1):c.2215G>A (p.Asp739Asn)	LTN1 (D739N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570509	NM_015565.3(LTN1):c.2419A>G (p.Thr807Ala)	LTN1 (T807A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554167	NM_015565.3(LTN1):c.1513C>G (p.Pro505Ala)	LTN1 (P505A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547313	NM_015565.3(LTN1):c.3544G>T (p.Asp1182Tyr)	LTN1 (D1168Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540312	NM_015565.3(LTN1):c.1628A>T (p.Asp543Val)	LTN1 (D543V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521544	NM_015565.3(LTN1):c.3536G>A (p.Ser1179Asn)	LTN1 (S1179N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486613	NM_015565.3(LTN1):c.3268C>T (p.Leu1090Phe)	LTN1 (L1076F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485859	NM_015565.3(LTN1):c.703T>G (p.Leu235Val)	LTN1 (L235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485406	NM_015565.3(LTN1):c.1903G>C (p.Gly635Arg)	LTN1 (G635R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484660	NM_015565.3(LTN1):c.2033T>C (p.Phe678Ser)	LTN1 (F678S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479165	NM_015565.3(LTN1):c.2815C>A (p.Leu939Ile)	LTN1 (L925I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474225	NM_015565.3(LTN1):c.2644T>A (p.Leu882Met)	LTN1 (L868M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455797	NM_015565.3(LTN1):c.3022G>T (p.Val1008Phe)	LTN1 (V994F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394805	NM_015565.3(LTN1):c.2953G>C (p.Asp985His)	LTN1 (D971H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394565	NM_015565.3(LTN1):c.1895T>C (p.Met632Thr)	LTN1 (M632T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389061	NM_015565.3(LTN1):c.913A>G (p.Ile305Val)	LTN1 (I305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387489	NM_015565.3(LTN1):c.1057C>T (p.Arg353Trp)	LTN1 (R353W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387460	NM_015565.3(LTN1):c.2971A>T (p.Ile991Leu)	LTN1 (I991L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387459	NM_015565.3(LTN1):c.2949A>T (p.Lys983Asn)	LTN1 (K969N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381781	NM_015565.3(LTN1):c.3194G>C (p.Arg1065Pro)	LTN1 (R1051P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371945	NM_015565.3(LTN1):c.3212C>T (p.Ser1071Leu)	LTN1 (S1071L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369724	NM_015565.3(LTN1):c.25A>C (p.Thr9Pro)	LOC130066503, LTN1 (T9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367245	NM_015565.3(LTN1):c.4596G>C (p.Glu1532Asp)	LTN1 (E1518D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359808	NM_015565.3(LTN1):c.2284T>C (p.Ser762Pro)	LTN1 (S762P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350065	NM_015565.3(LTN1):c.-35G>A	LTN1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2342025	NM_015565.3(LTN1):c.2731T>G (p.Ser911Ala)	LTN1 (S911A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335451	NM_015565.3(LTN1):c.1919G>A (p.Ser640Asn)	LTN1 (S640N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326268	NM_015565.3(LTN1):c.4452A>G (p.Ile1484Met)	LTN1 (I1484M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324019	NM_015565.3(LTN1):c.3560A>G (p.His1187Arg)	LTN1 (H1173R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305704	NM_015565.3(LTN1):c.1361G>A (p.Gly454Glu)	LTN1 (G454E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301852	NM_015565.3(LTN1):c.1868C>T (p.Ser623Phe)	LTN1 (S623F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289318	NM_015565.3(LTN1):c.1894A>G (p.Met632Val)	LTN1 (M632V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288452	NM_015565.3(LTN1):c.2398C>T (p.Leu800Phe)	LTN1 (L800F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280942	NM_015565.3(LTN1):c.1118C>T (p.Ser373Phe)	LTN1 (S373F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279351	NM_015565.3(LTN1):c.1700A>T (p.Glu567Val)	LTN1 (E567V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279259	NM_015565.3(LTN1):c.3710C>T (p.Ser1237Phe)	LTN1 (S1223F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267767	NM_015565.3(LTN1):c.3200T>G (p.Leu1067Arg)	LTN1 (L1053R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252914	NM_015565.3(LTN1):c.1535T>C (p.Val512Ala)	LTN1 (V512A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245077	NM_015565.3(LTN1):c.3886A>G (p.Ile1296Val)	LTN1 (I1282V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242796	NM_015565.3(LTN1):c.4415G>A (p.Cys1472Tyr)	LTN1 (C1458Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241107	NM_015565.3(LTN1):c.2797G>C (p.Glu933Gln)	LTN1 (E919Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235145	NM_015565.3(LTN1):c.2560T>C (p.Cys854Arg)	LTN1 (C854R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226732	NM_015565.3(LTN1):c.2418A>C (p.Lys806Asn)	LTN1 (K806N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222506	NM_015565.3(LTN1):c.5120A>G (p.Lys1707Arg)	LTN1 (K1693R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218735	NM_015565.3(LTN1):c.2093G>T (p.Arg698Ile)	LTN1 (R698I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217349	NM_015565.3(LTN1):c.2830A>C (p.Ile944Leu)	LTN1 (I930L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212999	NM_015565.3(LTN1):c.2087T>C (p.Met696Thr)	LTN1 (M696T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212888	NM_015565.3(LTN1):c.3179C>T (p.Thr1060Met)	LTN1 (T1046M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809314	GRCh37/hg19 21q21.3-22.11(chr21:29243314-32472073)x3	LTN1, USP16 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1707470	Single allele	CCT8, LINC00161 +29 more	Duplication	not specified	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1526712	GRCh37/hg19 21q21.3(chr21:30339313-30399972)	LTN1, RWDD2B +1 more	Copy number loss	not specified	GUncertain significance
Select item 1526711	GRCh37/hg19 21q21.3(chr21:30178276-30550204)	CCT8, LTN1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KRTAP20-1, KRTAP20-2 +91 more	Copy number gain	not specified	GPathogenic
Select item 1526709	GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)	KRTAP20-4, KRTAP21-1 +77 more	Copy number loss	not specified	GUncertain significance
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 982962	NM_015565.3(LTN1):c.5220del (p.Lys1740fs)	LTN1 (K1726fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 816152	GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1	ADAMTS1, ADAMTS5 +44 more	Copy number loss	not provided	GPathogenic
Select item 785670	NM_015565.3(LTN1):c.1386A>C (p.Glu462Asp)	LTN1 (E462D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771781	NM_015565.3(LTN1):c.1499C>T (p.Ala500Val)	LTN1 (A500V)	Single nucleotide variant (missense variant)	not provided	GBenign

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