11801[HGNC] - ClinVar

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Items: 46

	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 2614703	NM_006288.5(THY1):c.433C>G (p.Leu145Val)	THY1, USP2-AS1 (L128V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177286	NM_006288.5(THY1):c.413A>G (p.Gln138Arg)	THY1, USP2-AS1 (Q121R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326044	NM_006288.5(THY1):c.358G>A (p.Val120Ile)	THY1, USP2-AS1 (V103I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3177285	NM_006288.5(THY1):c.343A>G (p.Ile115Val)	THY1, USP2-AS1 (I115V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369153	NM_006288.5(THY1):c.308C>T (p.Thr103Met)	THY1, USP2-AS1 (T103M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381861	NM_006288.5(THY1):c.277G>A (p.Ala93Thr)	THY1, USP2-AS1 (A93T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291841	NM_006288.5(THY1):c.265C>T (p.Leu89Phe)	THY1, USP2-AS1 (L89F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177283	NM_006288.5(THY1):c.224G>A (p.Arg75His)	THY1, USP2-AS1 (R75H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326046	NM_006288.5(THY1):c.171G>C (p.Glu57Asp)	THY1, USP2-AS1 (E40D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326045	NM_006288.5(THY1):c.116G>A (p.Arg39His)	THY1, USP2-AS1 (R39H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253558	NM_006288.5(THY1):c.106C>G (p.Leu36Val)	THY1, USP2-AS1 (L36V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223287	NM_006288.5(THY1):c.53G>A (p.Arg18Gln)	THY1, USP2-AS1 (R18Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177284	NM_006288.5(THY1):c.25C>T (p.Leu9Phe)	THY1, USP2-AS1 (L9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
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 815474	GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3	ABCG4, ARCN1 +33 more	Copy number gain	not provided	GUncertain significance
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 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 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic

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Items: 46