19864[HGNC] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +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	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +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	ABCG4, ACAD8 +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 3216910	NM_014352.4(POU2F3):c.181C>T (p.Arg61Trp)	POU2F3 (R61W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300840	NM_014352.4(POU2F3):c.329T>A (p.Phe110Tyr)	POU2F3 (F112Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247484	NM_014352.4(POU2F3):c.352G>A (p.Gly118Arg)	POU2F3 (G118R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331357	NM_014352.4(POU2F3):c.376C>T (p.Leu126Phe)	POU2F3 (L126F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548716	NM_014352.4(POU2F3):c.403G>A (p.Gly135Ser)	POU2F3 (G135S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273943	NM_014352.4(POU2F3):c.421A>G (p.Thr141Ala)	POU2F3 (T141A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369339	NM_014352.4(POU2F3):c.446C>T (p.Ala149Val)	POU2F3 (A149V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309017	NM_014352.4(POU2F3):c.449T>C (p.Phe150Ser)	POU2F3 (F150S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216911	NM_014352.4(POU2F3):c.515T>C (p.Val172Ala)	POU2F3 (V172A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216912	NM_014352.4(POU2F3):c.538G>A (p.Gly180Arg)	POU2F3 (G180R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216913	NM_014352.4(POU2F3):c.599A>G (p.Gln200Arg)	POU2F3 (Q200R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309018	NM_014352.4(POU2F3):c.800C>A (p.Thr267Lys)	POU2F3 (T269K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299894	NM_014352.4(POU2F3):c.802C>A (p.Pro268Thr)	POU2F3 (P270T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216914	NM_014352.4(POU2F3):c.893A>T (p.Lys298Met)	LOC132211105, POU2F3 (K300M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216915	NM_014352.4(POU2F3):c.909C>A (p.Asn303Lys)	POU2F3 (N305K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216916	NM_014352.4(POU2F3):c.951G>C (p.Gln317His)	POU2F3 (Q317H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378658	NM_014352.4(POU2F3):c.1024C>G (p.Pro342Ala)	POU2F3 (P342A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283632	NM_014352.4(POU2F3):c.1048C>T (p.Pro350Ser)	POU2F3 (P350S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358334	NM_014352.4(POU2F3):c.1061C>G (p.Ser354Cys)	POU2F3 (S356C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330460	NM_014352.4(POU2F3):c.1121C>A (p.Thr374Asn)	POU2F3 (T376N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265506	NM_014352.4(POU2F3):c.1195C>A (p.His399Asn)	POU2F3 (H399N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216908	NM_014352.4(POU2F3):c.1223A>C (p.Asn408Thr)	POU2F3 (N410T +1 more)	Single nucleotide variant (missense variant)	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 2684657	GRCh37/hg19 11q23.3-24.1(chr11:119688645-122861792)x3	ARHGEF12, BLID +16 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2425667	NC_000011.9:g.(?_120130513)_(121500272_?)del	ARHGEF12, GRIK4 +6 more	Deletion	not provided	GUncertain significance
Select item 2425350	NC_000011.9:g.(?_119103138)_(121060609_?)dup	ARHGEF12, C1QTNF5 +14 more	Duplication	not provided	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	GRIK4, H2AX +73 more	Duplication	not provided	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 1015400	NC_000011.9:g.(?_119077108)_(120133495_?)dup	C1QTNF5, CBL +9 more	Duplication	RASopathy	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +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 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	ABCG4, APOA1 +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	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 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic
Select item 221483	GRCh37/hg19 11q23.3(chr11:120169037-120308055)x3	ARHGEF12, POU2F3 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 62