OPN4[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	FAM25A, GHITM +168 more	Copy number loss	See cases	GPathogenic
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 58754	GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1	ANXA11, BMPR1A +150 more	Copy number loss	See cases	GPathogenic
Select item 146022	GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1	LINC00857, LINC00858 +147 more	Copy number loss	See cases	GPathogenic
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 2399861	NM_033282.4(OPN4):c.122G>A (p.Arg41Gln)	OPN4 (R41Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357774	NM_033282.4(OPN4):c.224C>A (p.Thr75Lys)	OPN4 (T75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516612	NM_033282.4(OPN4):c.226G>A (p.Val76Met)	OPN4 (V76M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640652	NM_033282.4(OPN4):c.291-825T>G	OPN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2481892	NM_033282.4(OPN4):c.293G>A (p.Ser98Asn)	OPN4 (S109N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595493	NM_033282.4(OPN4):c.320T>G (p.Met107Arg)	OPN4 (M118R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369791	NM_033282.4(OPN4):c.376G>C (p.Val126Leu)	OPN4 (V137L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617563	NM_033282.4(OPN4):c.397T>C (p.Tyr133His)	OPN4 (Y144H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204410	NM_033282.4(OPN4):c.521G>A (p.Arg174His)	OPN4 (R185H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607309	NM_033282.4(OPN4):c.539G>A (p.Gly180Asp)	OPN4 (G180D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348717	NM_033282.4(OPN4):c.545C>T (p.Ala182Val)	OPN4 (A182V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204412	NM_033282.4(OPN4):c.554G>A (p.Arg185Lys)	OPN4 (R185K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507532	NM_033282.4(OPN4):c.560C>T (p.Ala187Val)	OPN4 (A187V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204413	NM_033282.4(OPN4):c.580G>A (p.Val194Ile)	OPN4 (V194I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333341	NM_033282.4(OPN4):c.580G>C (p.Val194Leu)	OPN4 (V194L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278512	NM_033282.4(OPN4):c.662G>A (p.Cys221Tyr)	OPN4 (C232Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514562	NM_033282.4(OPN4):c.694G>A (p.Val232Met)	OPN4 (V232M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204414	NM_033282.4(OPN4):c.709A>G (p.Met237Val)	OPN4 (M237V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401902	NM_033282.4(OPN4):c.817G>A (p.Gly273Arg)	OPN4 (G273R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408139	NM_033282.4(OPN4):c.854G>A (p.Arg285Gln)	OPN4 (R285Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477990	NM_033282.4(OPN4):c.859C>T (p.Arg287Trp)	OPN4 (R287W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317687	NM_033282.4(OPN4):c.907C>T (p.Leu303Phe)	OPN4 (L303F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204415	NM_033282.4(OPN4):c.916G>A (p.Val306Met)	OPN4 (V306M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204416	NM_033282.4(OPN4):c.947C>T (p.Ala316Val)	OPN4 (A327V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303854	NM_033282.4(OPN4):c.956C>G (p.Ala319Gly)	OPN4 (A330G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397058	NM_033282.4(OPN4):c.970G>A (p.Ala324Thr)	OPN4 (A324T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3204404	NM_033282.4(OPN4):c.985C>A (p.Pro329Thr)	OPN4 (P329T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204405	NM_033282.4(OPN4):c.988T>C (p.Tyr330His)	OPN4 (Y330H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738645	NM_033282.4(OPN4):c.999G>T (p.Ser333=)	OPN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2380879	NM_033282.4(OPN4):c.1015G>A (p.Ala339Thr)	OPN4 (A350T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357828	NM_033282.4(OPN4):c.1070A>G (p.Tyr357Cys)	OPN4 (Y357C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725721	NM_033282.4(OPN4):c.1074-10G>A	OPN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2509005	NM_033282.4(OPN4):c.1130G>A (p.Arg377Gln)	OPN4 (R388Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354443	NM_033282.4(OPN4):c.1206G>C (p.Trp402Cys)	OPN4 (W413C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204807	NM_033282.4(OPN4):c.1220G>C (p.Arg407Thr)	OPN4 (R407T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219834	NM_033282.4(OPN4):c.1223G>A (p.Arg408His)	OPN4 (R408H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204407	NM_033282.4(OPN4):c.1282G>T (p.Val428Leu)	OPN4 (V428L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399314	NM_033282.4(OPN4):c.1313G>A (p.Arg438Gln)	OPN4 (R449Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779118	NM_033282.4(OPN4):c.1320C>G (p.Leu440=)	OPN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3204408	NM_033282.4(OPN4):c.1324G>A (p.Gly442Ser)	OPN4 (G442S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 782531	NM_033282.4(OPN4):c.1331G>A (p.Gly444Asp)	OPN4 (G455D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2350591	NM_033282.4(OPN4):c.1378G>A (p.Glu460Lys)	OPN4 (E460K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204409	NM_033282.4(OPN4):c.1402A>G (p.Lys468Glu)	OPN4 (K468E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735364	NM_033282.4(OPN4):c.1412dup (p.Ser473fs)	OPN4 (S473fs +1 more)	Duplication (frameshift variant)	not provided	GBenign
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3063131	GRCh37/hg19 10q23.2(chr10:88376441-88628991)x3	BMPR1A, LDB3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 2684611	GRCh37/hg19 10q23.2(chr10:87924933-88535015)x3	BMPR1A, GRID1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 1703626	GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961)	ADIRF, ADIRF-AS1 +32 more	Copy number loss	Chromosome 10q23 deletion syndrome	GPathogenic
Select item 1340291	GRCh37/hg19 10q23.1-23.31(chr10:87232436-89649679)x1	ADIRF, ADIRF-AS1 +19 more	Copy number loss	not provided	GPathogenic
Select item 981172	Single allele	BMPR1A, CCSER2 +33 more	Deletion	not provided	GPathogenic
Select item 979280	GRCh37/hg19 10q23.2(chr10:87975634-88619777)x3	BMPR1A, GRID1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979275	GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1	DYDC1, DYDC2 +34 more	Copy number loss	not provided	GPathogenic
Select item 979274	GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1	ADIRF, ADIRF-AS1 +33 more	Copy number loss	not provided	GPathogenic
Select item 815366	GRCh37/hg19 10q23.2(chr10:88211498-88621031)x3	BMPR1A, LDB3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815362	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	not provided	GPathogenic
Select item 625557	GRCh37/hg19 10q22.3-23.2(chr10:81697811-88768847)	ADIRF, ADIRF-AS1 +29 more	Copy number loss	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	not provided	GPathogenic
Select item 563793	GRCh37/hg19 10q22.3-23.2(chr10:81644079-88973306)x3	LINC01520, LOC101929662 +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442213	GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1	ADIRF, ADIRF-AS1 +29 more	Copy number loss	See cases	GPathogenic
Select item 442036	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441795	GRCh37/hg19 10q22.3-23.2(chr10:81597767-88951347)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 395199	GRCh37/hg19 10q22.3-23.2(chr10:81892411-88722952)x1	ANXA11, BMPR1A +24 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 226206	GRCh37/hg19 10q23.2(chr10:88392032-88422089)	OPN4	Copy number gain	Abnormal esophagus morphology	GLikely benign

ClinVar

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Items: 88