TBCEL[gene] - ClinVar

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Items: 65

	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 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 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	See cases	GPathogenic
Select item 154156	GRCh38/hg38 11q23.3(chr11:120453168-121182251)x3	ARHGEF12, GRIK4 +24 more	Copy number gain	See cases	GUncertain significance
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 2626898	NM_001363644.2(TBCEL):c.74G>A (p.Arg25His)	TBCEL, TBCEL-TECTA (R25H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3174782	NM_001363644.2(TBCEL):c.110C>A (p.Thr37Lys)	TBCEL, TBCEL-TECTA (T37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613966	NM_001363644.2(TBCEL):c.122C>T (p.Ser41Phe)	TBCEL, TBCEL-TECTA (S41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513680	NM_001363644.2(TBCEL):c.122C>G (p.Ser41Cys)	TBCEL, TBCEL-TECTA (S41C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270346	NM_001363644.2(TBCEL):c.143A>G (p.Asn48Ser)	TBCEL, TBCEL-TECTA (N48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558406	NM_001363644.2(TBCEL):c.274G>A (p.Val92Ile)	TBCEL, TBCEL-TECTA (V92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371337	NM_001363644.2(TBCEL):c.292A>C (p.Asn98His)	TBCEL, TBCEL-TECTA (N98H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174783	NM_001363644.2(TBCEL):c.382G>A (p.Val128Ile)	TBCEL, TBCEL-TECTA (V128I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372099	NM_001363644.2(TBCEL):c.435G>T (p.Met145Ile)	TBCEL, TBCEL-TECTA (M145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035273	NM_001363644.2(TBCEL):c.436A>T (p.Ile146Leu)	TBCEL, TBCEL-TECTA (I146L)	Single nucleotide variant (missense variant)	TBCEL-related disorder	GLikely benign
Select item 2312699	NM_001363644.2(TBCEL):c.503G>C (p.Cys168Ser)	TBCEL, TBCEL-TECTA (C168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174784	NM_001363644.2(TBCEL):c.511A>G (p.Ile171Val)	TBCEL, TBCEL-TECTA (I171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174785	NM_001363644.2(TBCEL):c.578G>A (p.Arg193Gln)	TBCEL, TBCEL-TECTA (R193Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174786	NM_001363644.2(TBCEL):c.595T>C (p.Phe199Leu)	TBCEL, TBCEL-TECTA (F199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400224	NM_001363644.2(TBCEL):c.608A>T (p.Asp203Val)	TBCEL, TBCEL-TECTA (D203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174787	NM_001363644.2(TBCEL):c.689G>A (p.Arg230Gln)	TBCEL, TBCEL-TECTA (R230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216059	NM_001363644.2(TBCEL):c.733A>G (p.Ile245Val)	TBCEL, TBCEL-TECTA (I245V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174788	NM_001363644.2(TBCEL):c.757A>C (p.Lys253Gln)	TBCEL, TBCEL-TECTA (K253Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410651	NM_001363644.2(TBCEL):c.1130A>G (p.Gln377Arg)	TBCEL, TBCEL-TECTA (Q377R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482892	NM_001363644.2(TBCEL):c.1135C>T (p.Pro379Ser)	TBCEL, TBCEL-TECTA (P379S)	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 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 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	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 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	RNF26, TAGLN +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 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	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	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 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)	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 443289	GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
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 253740	GRCh37/hg19 11q23.3-24.1(chr11:120959042-121501131)x3	TECTA, TBCEL +2 more	Copy number gain	See cases	GUncertain significance
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: 65