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 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +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	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 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 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 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	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 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	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 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	ADSS2, AHCTF1 +265 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 +184 more	Copy number loss	See cases	GPathogenic
Select item 3302342	NM_014322.3(OPN3):c.1051G>C (p.Val351Leu)	KMO, OPN3 (V351L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3302339	NM_014322.3(OPN3):c.934A>G (p.Met312Val)	OPN3 (M312V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204403	NM_014322.3(OPN3):c.896A>T (p.Lys299Ile)	OPN3 (K299I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385454	NM_014322.3(OPN3):c.874A>G (p.Ile292Val)	OPN3 (I292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346563	NM_014322.3(OPN3):c.869T>C (p.Ile290Thr)	OPN3 (I290T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468854	NM_014322.3(OPN3):c.848G>T (p.Gly283Val)	OPN3 (G283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311571	NM_014322.3(OPN3):c.842G>C (p.Gly281Ala)	OPN3 (G281A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204402	NM_014322.3(OPN3):c.662G>A (p.Cys221Tyr)	OPN3 (C221Y)	Single nucleotide variant (missense variant)	not specified	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 3204401	NM_014322.3(OPN3):c.595G>A (p.Asp199Asn)	OPN3 (D199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329635	NM_014322.3(OPN3):c.569T>C (p.Val190Ala)	OPN3 (V190A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245631	NM_014322.3(OPN3):c.553G>A (p.Gly185Arg)	OPN3 (G185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264184	NM_014322.3(OPN3):c.542T>C (p.Leu181Pro)	OPN3 (L181P)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2538262	NM_014322.3(OPN3):c.470C>T (p.Ala157Val)	OPN3 (A157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204400	NM_014322.3(OPN3):c.436G>T (p.Ala146Ser)	OPN3 (A146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225528	NM_014322.3(OPN3):c.400G>A (p.Val134Met)	OPN3 (V134M)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3144416	NM_001381853.1(CHML):c.1774C>A (p.Gln592Lys)	CHML, OPN3 (Q592K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468778	NM_001381853.1(CHML):c.1679C>T (p.Ser560Leu)	CHML, OPN3 (S560L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384321	NM_001381853.1(CHML):c.1595C>T (p.Pro532Leu)	CHML, OPN3 (P532L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144415	NM_001381853.1(CHML):c.1508A>C (p.Lys503Thr)	CHML, OPN3 (K503T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247437	NM_001381853.1(CHML):c.1499C>G (p.Thr500Arg)	CHML, OPN3 (T500R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489425	NM_001381853.1(CHML):c.1484G>C (p.Cys495Ser)	CHML, OPN3 (C495S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144414	NM_001381853.1(CHML):c.1472T>A (p.Val491Asp)	CHML, OPN3 (V491D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2219342	NM_001381853.1(CHML):c.1469G>A (p.Arg490Gln)	CHML, OPN3 (R490Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2555126	NM_001381853.1(CHML):c.1441C>G (p.Pro481Ala)	CHML, OPN3 (P481A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144413	NM_001381853.1(CHML):c.1434A>G (p.Ile478Met)	CHML, OPN3 (I478M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2495414	NM_001381853.1(CHML):c.1408T>A (p.Leu470Ile)	CHML, OPN3 (L470I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345726	NM_001381853.1(CHML):c.1384G>C (p.Asp462His)	CHML, OPN3 (D462H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267060	NM_001381853.1(CHML):c.1367G>C (p.Arg456Thr)	CHML, OPN3 (R456T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267061	NM_001381853.1(CHML):c.1244C>T (p.Ser415Phe)	CHML, OPN3 (S415F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144412	NM_001381853.1(CHML):c.1234G>A (p.Asp412Asn)	CHML, OPN3 (D412N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267057	NM_001381853.1(CHML):c.1208G>A (p.Arg403His)	CHML, OPN3 (R403H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2551090	NM_001381853.1(CHML):c.1163G>T (p.Gly388Val)	CHML, OPN3 (G388V)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 3267055	NM_001381853.1(CHML):c.1102G>A (p.Gly368Arg)	CHML, OPN3 (G368R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385559	NM_001381853.1(CHML):c.1087T>G (p.Phe363Val)	CHML, OPN3 (F363V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144411	NM_001381853.1(CHML):c.1057A>G (p.Thr353Ala)	CHML, OPN3 (T353A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379337	NM_001381853.1(CHML):c.1052G>A (p.Cys351Tyr)	CHML, OPN3 (C351Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2290702	NM_001381853.1(CHML):c.1015G>A (p.Val339Ile)	CHML, OPN3 (V339I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3144410	NM_001381853.1(CHML):c.1010A>G (p.His337Arg)	CHML, OPN3 (H337R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522966	NM_001381853.1(CHML):c.899T>G (p.Phe300Cys)	CHML, OPN3 (F300C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267056	NM_001381853.1(CHML):c.806G>A (p.Arg269Gln)	CHML, OPN3 (R269Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209454	NM_001381853.1(CHML):c.788C>T (p.Thr263Ile)	CHML, OPN3 (T263I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267058	NM_001381853.1(CHML):c.782A>C (p.Asn261Thr)	CHML, OPN3 (N261T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524458	NM_001381853.1(CHML):c.637A>G (p.Ile213Val)	CHML, OPN3 (I213V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2412138	NM_001381853.1(CHML):c.590A>T (p.Asp197Val)	CHML, OPN3 (D197V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459704	NM_001381853.1(CHML):c.533A>C (p.Lys178Thr)	CHML, OPN3 (K178T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144418	NM_001381853.1(CHML):c.466A>G (p.Lys156Glu)	CHML, OPN3 (K156E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144417	NM_001381853.1(CHML):c.337G>A (p.Val113Ile)	CHML, OPN3 (V113I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2330880	NM_001381853.1(CHML):c.314C>T (p.Ala105Val)	CHML, OPN3 (A105V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255122	NM_001381853.1(CHML):c.313G>A (p.Ala105Thr)	CHML, OPN3 (A105T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598714	NM_001381853.1(CHML):c.284C>G (p.Thr95Ser)	CHML, OPN3 (T95S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606133	NM_001381853.1(CHML):c.269G>A (p.Arg90His)	CHML, OPN3 (R90H)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2486533	NM_001381853.1(CHML):c.197A>G (p.Asn66Ser)	CHML, OPN3 (N66S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2552409	NM_001381853.1(CHML):c.137A>G (p.Asn46Ser)	CHML, OPN3 (N46S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365180	NM_001381853.1(CHML):c.40A>G (p.Ile14Val)	CHML, OPN3 (I14V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3144419	NM_001381853.1(CHML):c.5C>T (p.Ala2Val)	CHML, OPN3 (R137W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3204399	NM_014322.3(OPN3):c.343G>T (p.Val115Leu)	CHML, OPN3 (V115L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3302341	NM_014322.3(OPN3):c.293C>T (p.Thr98Ile)	CHML, OPN3 (T98I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2326468	NM_014322.3(OPN3):c.289T>C (p.Phe97Leu)	CHML, OPN3 (F97L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3204397	NM_014322.3(OPN3):c.280G>C (p.Gly94Arg)	CHML, OPN3 (G94R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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)	not specified	GUncertain significance

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