OPCML[gene] - ClinVar - NCBI

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	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 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 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 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 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 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 57456	GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	ACAD8, ADAMTS15 +239 more	Copy number gain	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	LOC130007109, LOC130007110 +222 more	Copy number loss	See cases	GPathogenic
Select item 57189	GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	ACAD8, ADAMTS15 +221 more	Copy number loss	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 150923	GRCh38/hg38 11q24.3-25(chr11:128867946-133086998)x1	ADAMTS15, ADAMTS8 +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 58949	GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1	LOC130007100, LOC130007101 +145 more	Copy number loss	See cases	GPathogenic
Select item 58950	GRCh38/hg38 11q24.3-25(chr11:130060292-135040246)x1	ACAD8, ADAMTS15 +123 more	Copy number loss	See cases	GPathogenic
Select item 155222	GRCh38/hg38 11q24.3-25(chr11:130457291-133168833)x3	ADAMTS15, LINC02551 +43 more	Copy number gain	See cases	GUncertain significance
Select item 154559	GRCh38/hg38 11q24.3-25(chr11:130706504-135075271)x1	ACAD8, B3GAT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 148509	GRCh38/hg38 11q25(chr11:131212028-135075271)x1	ACAD8, B3GAT1 +88 more	Copy number loss	See cases	GPathogenic
Select item 58951	GRCh38/hg38 11q25(chr11:131587470-134609295)x1	ACAD8, B3GAT1 +75 more	Copy number loss	See cases	GPathogenic
Select item 2511850	NM_001012393.5(OPCML):c.997C>T (p.His333Tyr)	OPCML (H340Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204346	NM_001012393.5(OPCML):c.993A>T (p.Leu331Phe)	OPCML (L337F +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3056745	NM_001012393.5(OPCML):c.916+937G>A	OPCML	Single nucleotide variant (intron variant)	OPCML-related disorder	GBenign
Select item 3204351	NM_001012393.5(OPCML):c.875C>A (p.Thr292Lys)	OPCML (T298K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285510	NM_001012393.5(OPCML):c.872C>T (p.Ala291Val)	OPCML (A297V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494070	NM_001012393.5(OPCML):c.789G>A (p.Met263Ile)	OPCML (M263I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204349	NM_001012393.5(OPCML):c.731T>C (p.Met244Thr)	OPCML (M151T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044942	NM_001012393.5(OPCML):c.644-23GT[8]	OPCML	Microsatellite (intron variant)	OPCML-related disorder	GLikely benign
Select item 3042855	NM_001012393.5(OPCML):c.644-23GT[5]	OPCML	Microsatellite (intron variant)	OPCML-related disorder	GLikely benign
Select item 3204348	NM_001012393.5(OPCML):c.560G>A (p.Arg187Gln)	OPCML (R94Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204347	NM_001012393.5(OPCML):c.559C>G (p.Arg187Gly)	OPCML (R94G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039059	NM_001012393.5(OPCML):c.459T>C (p.Ile153=)	OPCML	Single nucleotide variant (synonymous variant)	OPCML-related disorder	GLikely benign
Select item 2517870	NM_001012393.5(OPCML):c.398A>C (p.Asn133Thr)	OPCML (N140T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155588	GRCh38/hg38 11q25(chr11:132588975-135068576)x1	ACAD8, B3GAT1 +65 more	Copy number loss	See cases	GUncertain significance
Select item 153407	GRCh38/hg38 11q25(chr11:132623600-133127335)x3	LOC126861400, LOC126861401 +2 more	Copy number gain	See cases	GUncertain significance
Select item 2642549	NM_001012393.5(OPCML):c.354G>A (p.Thr118=)	OPCML	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8983	NM_001012393.5(OPCML):c.263C>G (p.Pro88Arg)	OPCML (P95R +2 more)	Single nucleotide variant (missense variant +1 more)	Ovarian neoplasm	GPathogenic
Select item 2608210	NM_001012393.5(OPCML):c.217G>A (p.Asp73Asn)	OPCML (D73N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516235	NM_001012393.5(OPCML):c.164G>A (p.Arg55Gln)	OPCML (R55Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 144517	GRCh38/hg38 11q25(chr11:132936725-134998513)x1	LOC130007119, LOC130007120 +62 more	Copy number loss	See cases	GPathogenic
Select item 3204350	NM_001012393.5(OPCML):c.62-7C>T	OPCML (P26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 150089	GRCh38/hg38 11q25(chr11:132998476-133374654)x3	LOC124625874, LOC130007108 +3 more	Copy number gain	See cases	GLikely benign
Select item 1801417	NM_001012393.5(OPCML):c.62-182699_62-182663del	OPCML	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 155223	GRCh38/hg38 11q25(chr11:133169303-135068576)x1	ACAD8, B3GAT1 +60 more	Copy number loss	See cases	GLikely pathogenic
Select item 151350	GRCh38/hg38 11q25(chr11:133216297-133808201)x3	LINC02743, LOC112067710 +9 more	Copy number gain	See cases	GUncertain significance
Select item 150911	GRCh38/hg38 11q25(chr11:133493310-133745240)x3	LOC112067711, LOC126861402 +2 more	Copy number gain	See cases	GLikely benign
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 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 3063191	GRCh37/hg19 11q25(chr11:132499295-134938470)x1	ACAD8, B3GAT1 +11 more	Copy number loss	not specified	GUncertain significance
Select item 2685427	GRCh37/hg19 11q25(chr11:132220150-132550350)x1	OPCML	Copy number loss	not provided	GUncertain significance
Select item 2684660	GRCh37/hg19 11q25(chr11:133150362-133817643)x3	IGSF9B, LINC02743 +2 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 2505490	GRCh37/hg19 11q25(chr11:131952484-134938470)x1	NTM, SPATA19 +12 more	Copy number loss	Feeding difficulties +3 more	GPathogenic
Select item 1808846	GRCh37/hg19 11q25(chr11:133238757-134330730)x3	ACAD8, B3GAT1 +10 more	Copy number gain	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 1807802	GRCh37/hg19 11q25(chr11:130935635-134938470)x1	ACAD8, B3GAT1 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 1711169	GRCh37/hg19 11q25(chr11:130880039-134938470)x3	ACAD8, B3GAT1 +12 more	Copy number gain	See cases	GPathogenic
Select item 1707620	GRCh37/hg19 11q24.2-25(chr11:127075189-134945120)x1	TP53AIP1, VPS26B +30 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703539	GRCh37/hg19 11q24.3-25(chr11:130173156-134938470)	ACAD8, ADAMTS15 +17 more	Copy number gain	Seizure	GLikely pathogenic
Select item 1694653	GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1	ACAD8, ADAMTS15 +28 more	Copy number loss	not provided	GPathogenic
Select item 979333	GRCh37/hg19 11q25(chr11:131535422-133318785)x1	NTM, OPCML	Copy number loss	not provided	GUncertain significance
Select item 979331	GRCh37/hg19 11q24.3-25(chr11:130128323-134938470)x1	NTM, IGSF9B +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 979329	GRCh37/hg19 11q24.2-25(chr11:127602115-134938470)x1	ETS1, GLB1L3 +30 more	Copy number loss	not provided	GPathogenic
Select item 979328	GRCh37/hg19 11q24.2-25(chr11:125785487-134938470)x1	TP53AIP1, FLI1 +41 more	Copy number loss	not provided	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815485	GRCh37/hg19 11q25(chr11:131855168-133236931)x1	OPCML, NTM	Copy number loss	not provided	GUncertain significance
Select item 815484	GRCh37/hg19 11q25(chr11:131327161-134938470)x3	NTM, VPS26B +12 more	Copy number gain	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 812909	Single allele	ACAD8, ACRV1 +74 more	Deletion	Paris-Trousseau thrombocytopenia	GPathogenic
Select item 687995	GRCh37/hg19 11q25(chr11:130969272-134938470)x1	ACAD8, B3GAT1 +12 more	Copy number loss	not provided	GPathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 685693	GRCh37/hg19 11q25(chr11:132250878-132346077)x1	OPCML	Copy number loss	not provided	GUncertain significance
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 625595	GRCh37/hg19 11q25(chr11:133325079-134157243)	ACAD8, GLB1L3 +8 more	Copy number loss	11q partial monosomy syndrome	GPathogenic

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