PKNOX2[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	ABCG4, ACRV1 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 147400	GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	ACRV1, BSX +166 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 2236499	NM_001382323.2(PKNOX2):c.121C>G (p.Gln41Glu)	PKNOX2 (Q12E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3307085	NM_001382323.2(PKNOX2):c.140C>A (p.Ala47Asp)	PKNOX2 (A18D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2409801	NM_001382323.2(PKNOX2):c.167T>C (p.Val56Ala)	PKNOX2 (V56A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2295723	NM_001382323.2(PKNOX2):c.181A>C (p.Ile61Leu)	PKNOX2 (I61L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3213977	NM_001382323.2(PKNOX2):c.206C>A (p.Ala69Asp)	PKNOX2 (A40D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2518313	NM_001382323.2(PKNOX2):c.215G>A (p.Arg72Gln)	PKNOX2 (R72Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283365	NM_001382323.2(PKNOX2):c.332A>C (p.Asn111Thr)	PKNOX2 (N111T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301774	NM_001382323.2(PKNOX2):c.392A>G (p.Asp131Gly)	PKNOX2 (D102G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213979	NM_001382323.2(PKNOX2):c.535G>T (p.Asp179Tyr)	PKNOX2 (D115Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307086	NM_001382323.2(PKNOX2):c.665C>T (p.Ala222Val)	PKNOX2 (A158V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528412	NM_001382323.2(PKNOX2):c.668T>A (p.Leu223His)	PKNOX2 (L159H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358952	NM_001382323.2(PKNOX2):c.697G>A (p.Val233Ile)	PKNOX2 (V204I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556256	NM_001382323.2(PKNOX2):c.727T>G (p.Leu243Val)	PKNOX2 (L214V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554925	NM_001382323.2(PKNOX2):c.790G>A (p.Gly264Arg)	PKNOX2 (G264R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589566	NM_001382323.2(PKNOX2):c.904A>C (p.Ile302Leu)	PKNOX2 (I226L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2354241	NM_001382323.2(PKNOX2):c.1168G>A (p.Gly390Ser)	PKNOX2 (G274S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221050	NM_001382323.2(PKNOX2):c.1193G>T (p.Gly398Val)	PKNOX2 (G282V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392247	NM_001382323.2(PKNOX2):c.1198A>G (p.Ile400Val)	PKNOX2 (I255V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269180	NM_001382323.2(PKNOX2):c.1207G>A (p.Asp403Asn)	PKNOX2 (D258N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307087	NM_001382323.2(PKNOX2):c.1309G>A (p.Glu437Lys)	PKNOX2 (E408K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 2685426	GRCh37/hg19 11q24.2(chr11:125208533-125519800)x1	CHEK1, EI24 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2426317	NC_000011.9:g.(?_123504851)_(126163012_?)del	ACRV1, CCDC15 +56 more	Deletion	not provided	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1375927	NC_000011.9:g.(?_123504851)_(126163012_?)dup	ACRV1, CCDC15 +56 more	Duplication	Holoprosencephaly 11	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 979327	GRCh37/hg19 11q24.2(chr11:124941693-125228288)x3	SLC37A2, TMEM218 +1 more	Copy number gain	not provided	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815478	GRCh37/hg19 11q24.2(chr11:125202487-125610231)x1	FEZ1, ACRV1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 815477	GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1	LINC02743, VSIG2 +74 more	Copy number loss	not provided	GPathogenic
Select item 815475	GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	not provided	GPathogenic
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 812909	Single allele	ACAD8, ACRV1 +74 more	Deletion	Paris-Trousseau thrombocytopenia	GPathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +160 more	Copy number gain	not provided	GPathogenic
Select item 638099	GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563882	GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1	ACAD8, ACRV1 +114 more	Copy number loss	not provided	GPathogenic
Select item 443847	GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3	CHEK1, CLMP +95 more	Copy number gain	See cases	GPathogenic
Select item 443289	GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 442908	GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	See cases	GPathogenic
Select item 442155	GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1	ACAD8, ACRV1 +105 more	Copy number loss	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	MSANTD2, NCAPD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 395037	GRCh37/hg19 11q24.2(chr11:124254553-125315622)x1	CCDC15, ESAM +19 more	Copy number loss	See cases	GPathogenic
Select item 393778	GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1	PATE2, PATE3 +104 more	Copy number loss	See cases	GPathogenic
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic

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Items: 84