OPN3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	ABCB10, ACBD3 +869 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	OR2T27, OR2T29 +655 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	LOC126806063, LOC126806064 +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +301 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +282 more	Copy number loss	See cases	GPathogenic
Select item 60117	GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1	AKT3, AKT3-IT1 +55 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 153226	GRCh38/hg38 1q43(chr1:239288025-242458053)x1	BECN2, CHML +35 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	ADSS2, AHCTF1 +276 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +276 more	Copy number loss	See cases	GPathogenic
Select item 57847	GRCh38/hg38 1q43(chr1:239631841-242609012)x3	BECN2, CHML +35 more	Copy number gain	See cases	GUncertain significance
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	SNORA100, SPMIP3 +274 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	LOC128598893, LOC128598894 +273 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	LOC122152349, LOC122152350 +272 more	Copy number loss	See cases	GPathogenic
Select item 57848	GRCh38/hg38 1q43(chr1:240553438-242475553)x3	BECN2, CHML +29 more	Copy number gain	See cases	GUncertain significance
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	OR11L1, OR13G1 +264 more	Copy number loss	See cases	GPathogenic
Select item 57849	GRCh38/hg38 1q43(chr1:241358731-241676967)x3	CHML, FH +5 more	Copy number gain	See cases	GUncertain significance
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +183 more	Copy number loss	See cases	GPathogenic
Select item 2640207	NM_014322.3(OPN3):c.950G>A (p.Arg317Gln)	KMO, OPN3 (R317Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2385454	NM_014322.3(OPN3):c.874A>G (p.Ile292Val)	OPN3 (I292V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346563	NM_014322.3(OPN3):c.869T>C (p.Ile290Thr)	OPN3 (I290T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468854	NM_014322.3(OPN3):c.848G>T (p.Gly283Val)	OPN3 (G283V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311571	NM_014322.3(OPN3):c.842G>C (p.Gly281Ala)	OPN3 (G281A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740740	NM_014322.3(OPN3):c.600C>A (p.Ser200=)	OPN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2329635	NM_014322.3(OPN3):c.569T>C (p.Val190Ala)	OPN3 (V190A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245631	NM_014322.3(OPN3):c.553G>A (p.Gly185Arg)	OPN3 (G185R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264184	NM_014322.3(OPN3):c.542T>C (p.Leu181Pro)	OPN3 (L181P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2640208	NM_014322.3(OPN3):c.533G>C (p.Arg178Thr)	OPN3 (R178T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2364459	NM_014322.3(OPN3):c.494C>T (p.Ser165Leu)	OPN3 (S165L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538262	NM_014322.3(OPN3):c.470C>T (p.Ala157Val)	OPN3 (A157V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225528	NM_014322.3(OPN3):c.400G>A (p.Val134Met)	OPN3 (V134M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 147285	GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3	ADSS2, AKT3 +87 more	Copy number gain	See cases	GPathogenic
Select item 2479463	NM_001381853.1(CHML):c.1841A>G (p.Glu614Gly)	CHML, OPN3 (E614G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2468778	NM_001381853.1(CHML):c.1679C>T (p.Ser560Leu)	CHML, OPN3 (S560L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2384321	NM_001381853.1(CHML):c.1595C>T (p.Pro532Leu)	CHML, OPN3 (P532L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2247437	NM_001381853.1(CHML):c.1499C>G (p.Thr500Arg)	CHML, OPN3 (T500R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2489425	NM_001381853.1(CHML):c.1484G>C (p.Cys495Ser)	CHML, OPN3 (C495S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2219342	NM_001381853.1(CHML):c.1469G>A (p.Arg490Gln)	OPN3, CHML (R490Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2555126	NM_001381853.1(CHML):c.1441C>G (p.Pro481Ala)	CHML, OPN3 (P481A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2495414	NM_001381853.1(CHML):c.1408T>A (p.Leu470Ile)	CHML, OPN3 (L470I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2345726	NM_001381853.1(CHML):c.1384G>C (p.Asp462His)	CHML, OPN3 (D462H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2551090	NM_001381853.1(CHML):c.1163G>T (p.Gly388Val)	CHML, OPN3 (G388V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2385559	NM_001381853.1(CHML):c.1087T>G (p.Phe363Val)	CHML, OPN3 (F363V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2379337	NM_001381853.1(CHML):c.1052G>A (p.Cys351Tyr)	CHML, OPN3 (C351Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2290702	NM_001381853.1(CHML):c.1015G>A (p.Val339Ile)	OPN3, CHML (V339I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2522966	NM_001381853.1(CHML):c.899T>G (p.Phe300Cys)	CHML, OPN3 (F300C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2209454	NM_001381853.1(CHML):c.788C>T (p.Thr263Ile)	CHML, OPN3 (T263I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2524458	NM_001381853.1(CHML):c.637A>G (p.Ile213Val)	CHML, OPN3 (I213V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2412138	NM_001381853.1(CHML):c.590A>T (p.Asp197Val)	CHML, OPN3 (D197V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2459704	NM_001381853.1(CHML):c.533A>C (p.Lys178Thr)	CHML, OPN3 (K178T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2330880	NM_001381853.1(CHML):c.314C>T (p.Ala105Val)	OPN3, CHML (A105V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2255122	NM_001381853.1(CHML):c.313G>A (p.Ala105Thr)	CHML, OPN3 (A105T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2598714	NM_001381853.1(CHML):c.284C>G (p.Thr95Ser)	CHML, OPN3 (T95S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2606133	NM_001381853.1(CHML):c.269G>A (p.Arg90His)	CHML, OPN3 (R90H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2486533	NM_001381853.1(CHML):c.197A>G (p.Asn66Ser)	CHML, OPN3 (N66S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2552409	NM_001381853.1(CHML):c.137A>G (p.Asn46Ser)	CHML, OPN3 (N46S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2365180	NM_001381853.1(CHML):c.40A>G (p.Ile14Val)	OPN3, CHML (I14V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2326468	NM_014322.3(OPN3):c.289T>C (p.Phe97Leu)	OPN3, CHML (F97L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 750178	NM_014322.3(OPN3):c.276C>T (p.Leu92=)	CHML, OPN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2477134	NM_014322.3(OPN3):c.247A>T (p.Ile83Phe)	CHML, OPN3 (I83F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 775697	NM_014322.3(OPN3):c.240G>C (p.Leu80=)	CHML, OPN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2362589	NM_014322.3(OPN3):c.229C>T (p.His77Tyr)	OPN3, CHML (H77Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263206	NM_014322.3(OPN3):c.226A>G (p.Thr76Ala)	OPN3, CHML (T76A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495857	NM_014322.3(OPN3):c.211C>T (p.Arg71Trp)	CHML, OPN3 (R71W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569757	NM_014322.3(OPN3):c.166G>T (p.Val56Phe)	CHML, OPN3 (V56F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456773	NM_014322.3(OPN3):c.128G>A (p.Arg43His)	CHML, OPN3 (R43H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380084	NM_014322.3(OPN3):c.100C>T (p.Pro34Ser)	OPN3, CHML (P34S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394894	NM_014322.3(OPN3):c.52G>A (p.Ala18Thr)	OPN3, CHML (A18T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062677	GRCh37/hg19 1q43(chr1:239786185-242208644)x1	CHML, CHRM3 +9 more	Copy number loss	not specified	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2427727	NC_000001.10:g.(?_241661128)_(244218672_?)del	AKT3, CEP170 +10 more	Deletion	not provided	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809288	GRCh37/hg19 1q43(chr1:241094653-242087176)x3	CHML, EXO1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1705941	GRCh37/hg19 1q43(chr1:240857677-243316822)x3	CEP170, CHML +8 more	Copy number gain	Autism	GUncertain significance
Select item 1527703	GRCh37/hg19 1q43(chr1:241180373-242090901)	CHML, EXO1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1341309	GRCh37/hg19 1q43(chr1:240857677-243316822)x3	CEP170, CHML +8 more	Copy number gain	not provided	GUncertain significance
Select item 1047876	GRCh37/hg19 1q43-44(chr1:240554955-247342593)	AHCTF1, AKT3 +31 more	Copy number loss	Cerebellar vermis hypoplasia +5 more	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979945	GRCh37/hg19 1q43(chr1:241496526-241885359)x3	RGS7, WDR64 +4 more	Copy number gain	not provided	GLikely benign

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