ClinVar for Gene (Select 139818) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3362713	NM_144658.4(DOCK11):c.1388A>G (p.Gln463Arg)	DOCK11 (Q463R)	Single nucleotide variant (missense variant)	Autoinflammatory disease, multisystem, with immune dysregulation, X-linked	GUncertain significance
Select item 3273313	NM_144658.4(DOCK11):c.5192A>G (p.Glu1731Gly)	DOCK11 (E1731G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273312	NM_144658.4(DOCK11):c.1679C>T (p.Ser560Leu)	DOCK11 (S560L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273311	NM_144658.4(DOCK11):c.1678T>G (p.Ser560Ala)	DOCK11 (S560A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273309	NM_144658.4(DOCK11):c.2878T>C (p.Tyr960His)	DOCK11 (Y960H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273308	NM_144658.4(DOCK11):c.3430C>A (p.Leu1144Ile)	DOCK11 (L1144I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273307	NM_144658.4(DOCK11):c.854C>T (p.Thr285Met)	DOCK11 (T285M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273306	NM_144658.4(DOCK11):c.4664A>G (p.Asn1555Ser)	DOCK11 (N1555S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273305	NM_144658.4(DOCK11):c.4712C>T (p.Ala1571Val)	DOCK11 (A1571V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251187	NM_144658.4(DOCK11):c.3180+3A>G	DOCK11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3084975	NM_144658.4(DOCK11):c.640T>A (p.Ser214Thr)	DOCK11 (S214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084974	NM_144658.4(DOCK11):c.5794C>T (p.Leu1932Phe)	DOCK11 (L1932F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084973	NM_144658.4(DOCK11):c.5526T>A (p.Phe1842Leu)	DOCK11 (F1842L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084972	NM_144658.4(DOCK11):c.5351A>G (p.Tyr1784Cys)	DOCK11 (Y1784C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084971	NM_144658.4(DOCK11):c.5186G>A (p.Arg1729His)	DOCK11 (R1729H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084969	NM_144658.4(DOCK11):c.4954T>G (p.Phe1652Val)	DOCK11 (F1652V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084968	NM_144658.4(DOCK11):c.4697C>T (p.Ala1566Val)	DOCK11 (A1566V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084967	NM_144658.4(DOCK11):c.4485C>G (p.Ser1495Arg)	DOCK11 (S1495R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084966	NM_144658.4(DOCK11):c.3728C>A (p.Pro1243Gln)	DOCK11 (P1243Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084965	NM_144658.4(DOCK11):c.3641G>A (p.Ser1214Asn)	DOCK11 (S1214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084964	NM_144658.4(DOCK11):c.3563A>G (p.Tyr1188Cys)	DOCK11 (Y1188C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084963	NM_144658.4(DOCK11):c.3164G>A (p.Ser1055Asn)	DOCK11 (S1055N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084962	NM_144658.4(DOCK11):c.3052G>A (p.Asp1018Asn)	DOCK11 (D1018N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084960	NM_144658.4(DOCK11):c.2914A>G (p.Met972Val)	DOCK11 (M972V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084959	NM_144658.4(DOCK11):c.2774C>T (p.Pro925Leu)	DOCK11 (P925L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084958	NM_144658.4(DOCK11):c.2662G>A (p.Val888Ile)	DOCK11 (V888I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084957	NM_144658.4(DOCK11):c.2395G>A (p.Val799Met)	DOCK11 (V799M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084956	NM_144658.4(DOCK11):c.2308A>G (p.Thr770Ala)	DOCK11 (T770A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084955	NM_144658.4(DOCK11):c.175G>A (p.Asp59Asn)	DOCK11 (D59N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084954	NM_144658.4(DOCK11):c.1473C>A (p.His491Gln)	DOCK11 (H491Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084953	NM_144658.4(DOCK11):c.1409A>C (p.Asn470Thr)	DOCK11 (N470T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084952	NM_144658.4(DOCK11):c.1375C>T (p.Arg459Cys)	DOCK11 (R459C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685761	GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	AGTR2, AKAP14 +66 more	Copy number gain	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685004	GRCh37/hg19 Xq24(chrX:117608406-118049140)x3	DOCK11, IL13RA1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661271	NM_144658.4(DOCK11):c.6132C>T (p.Pro2044=)	DOCK11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661270	NM_144658.4(DOCK11):c.4539T>C (p.Phe1513=)	DOCK11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661269	NM_144658.4(DOCK11):c.3817C>T (p.Arg1273Cys)	DOCK11 (R1273C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2661268	NM_144658.4(DOCK11):c.2820G>A (p.Thr940=)	DOCK11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661267	NM_144658.4(DOCK11):c.1956C>T (p.Tyr652=)	DOCK11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661266	NM_144658.4(DOCK11):c.749A>G (p.His250Arg)	DOCK11 (H250R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2661265	NM_144658.4(DOCK11):c.236G>A (p.Arg79His)	DOCK11 (R79H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661264	NM_144658.4(DOCK11):c.24C>T (p.Thr8=)	DOCK11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636083	NM_144658.4(DOCK11):c.1201G>T (p.Ala401Ser)	DOCK11 (A401S)	Single nucleotide variant (missense variant)	DOCK11-related disorder	GUncertain significance
Select item 2623147	NM_144658.4(DOCK11):c.3298A>C (p.Asn1100His)	DOCK11 (N1100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622871	NM_144658.4(DOCK11):c.199T>C (p.Phe67Leu)	DOCK11 (F67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612229	NM_144658.4(DOCK11):c.2620C>A (p.Gln874Lys)	DOCK11 (Q874K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594067	NM_144658.4(DOCK11):c.1297A>G (p.Thr433Ala)	DOCK11 (T433A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592519	NM_144658.4(DOCK11):c.5788C>A (p.Gln1930Lys)	DOCK11 (Q1930K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569767	NM_144658.4(DOCK11):c.224C>T (p.Ser75Leu)	DOCK11 (S75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559659	NM_144658.4(DOCK11):c.5425A>G (p.Thr1809Ala)	DOCK11 (T1809A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541475	NM_144658.4(DOCK11):c.5595T>G (p.Phe1865Leu)	DOCK11 (F1865L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533886	NM_144658.4(DOCK11):c.6065A>G (p.Asp2022Gly)	DOCK11 (D2022G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533259	NM_144658.4(DOCK11):c.5167G>C (p.Val1723Leu)	DOCK11 (V1723L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529228	NM_144658.4(DOCK11):c.2194T>A (p.Phe732Ile)	DOCK11 (F732I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522692	NM_144658.4(DOCK11):c.1582G>A (p.Ala528Thr)	DOCK11 (A528T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518734	NM_144658.4(DOCK11):c.5132G>A (p.Arg1711His)	DOCK11 (R1711H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513694	NM_144658.4(DOCK11):c.3283C>T (p.Arg1095Trp)	DOCK11 (R1095W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508491	NM_144658.4(DOCK11):c.3539G>A (p.Arg1180Gln)	DOCK11 (R1180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2499987	NM_144658.4(DOCK11):c.5653C>T (p.Arg1885Cys)	DOCK11 (R1885C)	Single nucleotide variant (missense variant)	Autoinflammatory disease, multisystem, with immune dysregulation, X-linked +1 more	GPathogenic
Select item 2499986	NM_144658.4(DOCK11):c.4097G>A (p.Arg1366Gln)	DOCK11 (R1366Q)	Single nucleotide variant (missense variant)	DOCK11 deficiency +1 more	GPathogenic
Select item 2499985	NM_144658.4(DOCK11):c.5117T>C (p.Leu1706Ser)	DOCK11 (L1706S)	Single nucleotide variant (missense variant)	DOCK11 deficiency	GPathogenic
Select item 2499984	NM_144658.4(DOCK11):c.1240G>T (p.Asp414Tyr)	DOCK11 (D414Y)	Single nucleotide variant (missense variant)	DOCK11 deficiency +1 more	GPathogenic
Select item 2499983	NM_144658.4(DOCK11):c.823A>T (p.Thr275Ser)	DOCK11 (T275S)	Single nucleotide variant (missense variant)	Autoinflammatory disease, multisystem, with immune dysregulation, X-linked +1 more	GPathogenic
Select item 2499982	NM_144658.4(DOCK11):c.4007A>G (p.His1336Arg)	DOCK11 (H1336R)	Single nucleotide variant (missense variant)	DOCK11 deficiency	GPathogenic
Select item 2499981	NM_144658.4(DOCK11):c.3893T>G (p.Leu1298Arg)	DOCK11 (L1298R)	Single nucleotide variant (missense variant)	DOCK11 deficiency +1 more	GPathogenic
Select item 2498179	NM_144658.4(DOCK11):c.1678_1679delinsGT (p.Ser560Val)	DOCK11 (S560V)	Indel (missense variant)	See cases	GUncertain significance
Select item 2482076	NM_144658.4(DOCK11):c.2984A>G (p.His995Arg)	DOCK11 (H995R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444466	NM_144658.4(DOCK11):c.75dup (p.Glu26Ter)	DOCK11 (E26*)	Duplication (nonsense)	Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia	GPathogenic
Select item 2444459	NM_144658.4(DOCK11):c.1718+5G>A	DOCK11	Single nucleotide variant (intron variant)	Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia	GPathogenic
Select item 2444458	NM_144658.4(DOCK11):c.5120G>C (p.Trp1707Ser)	DOCK11 (W1707S)	Single nucleotide variant (missense variant)	Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia	GPathogenic
Select item 2444457	NM_144658.4(DOCK11):c.323A>G (p.Tyr108Cys)	DOCK11 (Y108C)	Single nucleotide variant (missense variant)	Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia	GLikely pathogenic
Select item 2425675	NC_000023.10:g.(?_117629935)_(119761021_?)dup	AKAP14, ATP1B4 +27 more	Duplication	not provided	GUncertain significance
Select item 2424705	NC_000023.10:g.(?_117629935)_(119761021_?)del	AKAP14, ATP1B4 +27 more	Deletion	X-linked intellectual disability Cabezas type +1 more	GPathogenic
Select item 2401632	NM_144658.4(DOCK11):c.3097C>T (p.Arg1033Cys)	DOCK11 (R1033C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395465	NM_144658.4(DOCK11):c.5957T>C (p.Met1986Thr)	DOCK11 (M1986T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392154	NM_144658.4(DOCK11):c.2170C>A (p.Gln724Lys)	DOCK11 (Q724K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357325	NM_144658.4(DOCK11):c.4066C>T (p.Leu1356Phe)	DOCK11 (L1356F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336337	NM_144658.4(DOCK11):c.77A>T (p.Glu26Val)	DOCK11 (E26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336336	NM_144658.4(DOCK11):c.65A>G (p.Gln22Arg)	DOCK11 (Q22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332435	NM_144658.4(DOCK11):c.1692T>G (p.Ile564Met)	DOCK11 (I564M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309461	NM_144658.4(DOCK11):c.3587C>T (p.Ser1196Phe)	DOCK11 (S1196F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294093	NM_144658.4(DOCK11):c.4544A>C (p.Tyr1515Ser)	DOCK11 (Y1515S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294092	NM_144658.4(DOCK11):c.4541A>C (p.Glu1514Ala)	DOCK11 (E1514A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292875	NM_144658.4(DOCK11):c.2544G>T (p.Glu848Asp)	DOCK11 (E848D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284772	NM_144658.4(DOCK11):c.2215A>T (p.Ile739Phe)	DOCK11 (I739F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264488	NM_144658.4(DOCK11):c.2563T>C (p.Cys855Arg)	DOCK11 (C855R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254661	NM_144658.4(DOCK11):c.673G>T (p.Ala225Ser)	DOCK11 (A225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237042	NM_144658.4(DOCK11):c.118G>T (p.Val40Phe)	DOCK11 (V40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230186	NM_144658.4(DOCK11):c.3569G>A (p.Cys1190Tyr)	DOCK11 (C1190Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209805	NM_144658.4(DOCK11):c.862A>G (p.Thr288Ala)	DOCK11 (T288A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205007	NM_144658.4(DOCK11):c.1967A>G (p.Lys656Arg)	DOCK11 (K656R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204482	NM_144658.4(DOCK11):c.4994C>T (p.Ala1665Val)	DOCK11 (A1665V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic

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