IL11[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	BRSK1, C19orf85 +124 more	Copy number gain	See cases	GUncertain significance
Select item 3109060	NM_000641.4(IL11):c.593G>A (p.Arg198Gln)	IL11 (R119Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371043	NM_000641.4(IL11):c.592C>T (p.Arg198Trp)	IL11 (R119W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109059	NM_000641.4(IL11):c.565G>A (p.Val189Met)	IL11 (V110M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310649	NM_000641.4(IL11):c.548T>C (p.Leu183Pro)	IL11 (L104P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250461	NM_000641.4(IL11):c.539G>C (p.Gly180Ala)	IL11 (G101A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537097	NM_000641.4(IL11):c.538G>A (p.Gly180Arg)	IL11 (G180R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237811	NM_000641.4(IL11):c.536G>A (p.Gly179Glu)	IL11 (G100E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774358	NM_000641.4(IL11):c.534G>T (p.Leu178=)	IL11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2290162	NM_000641.4(IL11):c.508G>T (p.Gly170Cys)	IL11 (G170C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410582	NM_000641.4(IL11):c.487C>T (p.Pro163Ser)	IL11 (P163S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406397	NM_000641.4(IL11):c.457C>T (p.Pro153Ser)	IL11 (P74S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568502	NM_000641.4(IL11):c.415C>G (p.Arg139Gly)	IL11 (R139G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377704	NM_000641.4(IL11):c.413G>A (p.Arg138His)	IL11 (R138H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109058	NM_000641.4(IL11):c.412C>T (p.Arg138Cys)	IL11 (R138C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600750	NM_000641.4(IL11):c.402C>A (p.Asp134Glu)	IL11 (D134E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109057	NM_000641.4(IL11):c.338G>A (p.Arg113Gln)	IL11 (R113Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339193	NM_000641.4(IL11):c.320A>T (p.His107Leu)	IL11 (H28L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222507	NM_000641.4(IL11):c.317G>A (p.Arg106Gln)	IL11 (R106Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535658	NM_000641.4(IL11):c.298G>C (p.Asp100His)	IL11 (D100H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109056	NM_000641.4(IL11):c.292C>G (p.Arg98Gly)	IL11 (R19G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250740	NM_000641.4(IL11):c.205G>T (p.Asp69Tyr)	IL11 (D69Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357851	NM_000641.4(IL11):c.94T>G (p.Ser32Ala)	IL11 (S32A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109061	NM_000641.4(IL11):c.85C>G (p.Pro29Ala)	IL11 (P29A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479161	NM_000641.4(IL11):c.82C>T (p.Pro28Ser)	IL11 (P28S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2261824	NM_000641.4(IL11):c.53C>G (p.Thr18Arg)	IL11 (T18R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808436	GRCh37/hg19 19q13.42(chr19:55642778-55932200)x3	BRSK1, COX6B2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	BRSK1, CCDC106 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564600	GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	KMT5C, NLRP8 +39 more	Copy number loss	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

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Items: 50