OR6T1[gene] - ClinVar

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Items: 77

	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 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 152641	GRCh38/hg38 11q24.1-24.2(chr11:123543649-124802201)x3	ESAM, ESAM-AS1 +59 more	Copy number gain	See cases	GUncertain significance
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 2244626	NM_001005187.1(OR6T1):c.952G>C (p.Val318Leu)	OR6T1 (V318L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206603	NM_001005187.1(OR6T1):c.878G>A (p.Arg293His)	OR6T1 (R293H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592419	NM_001005187.1(OR6T1):c.848C>T (p.Pro283Leu)	OR6T1 (P283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466308	NM_001005187.1(OR6T1):c.848C>A (p.Pro283His)	OR6T1 (P283H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457960	NM_001005187.1(OR6T1):c.782G>A (p.Arg261His)	OR6T1 (R261H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294901	NM_001005187.1(OR6T1):c.745G>A (p.Val249Ile)	OR6T1 (V249I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206601	NM_001005187.1(OR6T1):c.739G>T (p.Val247Leu)	OR6T1 (V247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206600	NM_001005187.1(OR6T1):c.701G>A (p.Arg234Gln)	OR6T1 (R234Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517174	NM_001005187.1(OR6T1):c.697G>C (p.Glu233Gln)	OR6T1 (E233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384386	NM_001005187.1(OR6T1):c.658T>C (p.Cys220Arg)	OR6T1 (C220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473212	NM_001005187.1(OR6T1):c.647T>G (p.Val216Gly)	OR6T1 (V216G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303369	NM_001005187.1(OR6T1):c.611C>T (p.Thr204Met)	OR6T1 (T204M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615895	NM_001005187.1(OR6T1):c.511C>T (p.Pro171Ser)	OR6T1 (P171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303370	NM_001005187.1(OR6T1):c.455G>T (p.Gly152Val)	OR6T1 (G152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588104	NM_001005187.1(OR6T1):c.422G>C (p.Cys141Ser)	OR6T1 (C141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398025	NM_001005187.1(OR6T1):c.391C>T (p.Arg131Cys)	OR6T1 (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379673	NM_001005187.1(OR6T1):c.250G>A (p.Val84Ile)	OR6T1 (V84I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206598	NM_001005187.1(OR6T1):c.243G>A (p.Met81Ile)	OR6T1 (M81I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496350	NM_001005187.1(OR6T1):c.136A>G (p.Ile46Val)	OR6T1 (I46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610863	NM_001005187.1(OR6T1):c.107T>G (p.Ile36Ser)	OR6T1 (I36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470399	NM_001005187.1(OR6T1):c.53C>T (p.Pro18Leu)	OR6T1 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206599	NM_001005187.1(OR6T1):c.25G>T (p.Val9Leu)	OR6T1 (V9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617501	NM_001005187.1(OR6T1):c.25G>A (p.Val9Ile)	OR6T1 (V9I)	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 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 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	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1375927	NC_000011.9:g.(?_123504851)_(126163012_?)dup	CDON, ACRV1 +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 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 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)	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 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: 77