MAP3K11[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152827	GRCh38/hg38 11q13.1(chr11:65327786-65626431)x3	DPF2, EHBP1L1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 152640	GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3	EHBP1L1, FAM89B +45 more	Copy number gain	See cases	GUncertain significance
Select item 2277721	NM_002419.4(MAP3K11):c.2497A>C (p.Lys833Gln)	MAP3K11 (K833Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528795	NM_002419.4(MAP3K11):c.2423A>C (p.Asp808Ala)	MAP3K11 (D808A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588709	NM_002419.4(MAP3K11):c.2278C>T (p.Pro760Ser)	MAP3K11 (P760S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394189	NM_002419.4(MAP3K11):c.2243C>T (p.Ser748Phe)	MAP3K11 (S748F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241975	NM_002419.4(MAP3K11):c.2239C>T (p.Arg747Cys)	MAP3K11 (R747C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248829	NM_002419.4(MAP3K11):c.2186G>A (p.Arg729Gln)	MAP3K11 (R729Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589330	NM_002419.4(MAP3K11):c.2086A>G (p.Ile696Val)	MAP3K11 (I696V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396344	NM_002419.4(MAP3K11):c.2083C>T (p.Leu695Phe)	MAP3K11 (L695F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341744	NM_002419.4(MAP3K11):c.1988C>T (p.Pro663Leu)	MAP3K11 (P663L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319686	NM_002419.4(MAP3K11):c.1843C>T (p.Arg615Trp)	MAP3K11 (R615W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263143	NM_002419.4(MAP3K11):c.1840C>T (p.Pro614Ser)	MAP3K11 (P614S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315462	NM_002419.4(MAP3K11):c.1779T>A (p.Asp593Glu)	MAP3K11 (D593E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491132	NM_002419.4(MAP3K11):c.1709C>T (p.Ser570Phe)	MAP3K11 (S570F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469480	NM_002419.4(MAP3K11):c.1682G>A (p.Arg561Gln)	MAP3K11 (R561Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249265	NM_002419.4(MAP3K11):c.1454C>T (p.Ala485Val)	MAP3K11 (A485V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616859	NM_002419.4(MAP3K11):c.1453G>A (p.Ala485Thr)	MAP3K11 (A485T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480186	NM_002419.4(MAP3K11):c.1446G>T (p.Lys482Asn)	MAP3K11 (K482N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411822	NM_002419.4(MAP3K11):c.1432T>C (p.Phe478Leu)	MAP3K11 (F478L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521157	NM_002419.4(MAP3K11):c.1208T>C (p.Ile403Thr)	MAP3K11 (I403T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460725	NM_002419.4(MAP3K11):c.1131G>C (p.Glu377Asp)	MAP3K11 (E377D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396660	NM_002419.4(MAP3K11):c.1109C>T (p.Ala370Val)	MAP3K11 (A370V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240508	NM_002419.4(MAP3K11):c.1070A>C (p.Asp357Ala)	MAP3K11 (D357A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493016	NM_002419.4(MAP3K11):c.1054G>T (p.Ala352Ser)	MAP3K11 (A352S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 982194	NM_002419.4(MAP3K11):c.847G>A (p.Ala283Thr)	MAP3K11 (A283T)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 2605257	NM_002419.4(MAP3K11):c.844G>C (p.Ala282Pro)	MAP3K11 (A282P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209507	NM_002419.4(MAP3K11):c.670C>T (p.Arg224Cys)	MAP3K11 (R224C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255027	NM_002419.4(MAP3K11):c.550C>G (p.Leu184Val)	MAP3K11 (L184V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485323	NM_002419.4(MAP3K11):c.479G>A (p.Ser160Asn)	MAP3K11 (S160N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483610	NM_002419.4(MAP3K11):c.449C>T (p.Pro150Leu)	MAP3K11 (P150L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544560	NM_002419.4(MAP3K11):c.364G>A (p.Val122Met)	MAP3K11 (V122M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248278	NM_002419.4(MAP3K11):c.329A>G (p.Glu110Gly)	MAP3K11 (E110G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239629	NM_002419.4(MAP3K11):c.218G>A (p.Arg73Gln)	MAP3K11 (R73Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558606	NM_002419.4(MAP3K11):c.157G>A (p.Glu53Lys)	MAP3K11 (E53K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320355	NM_002419.4(MAP3K11):c.124G>T (p.Ala42Ser)	MAP3K11 (A42S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348678	NM_002419.4(MAP3K11):c.67G>A (p.Gly23Ser)	MAP3K11 (G23S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426697	NC_000011.9:g.(?_65325080)_(65639825_?)del	AP5B1, CFL1 +15 more	Deletion	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	DRAP1, SNX32 +81 more	Deletion	Glycogen storage disease, type V +1 more	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ARL2, ATG2A +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 50