OR2B11[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 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 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 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 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 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +184 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	OR2T34, OR2T35 +254 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +244 more	Copy number loss	See cases	GPathogenic
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +231 more	Copy number gain	See cases	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +227 more	Copy number loss	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +203 more	Copy number loss	See cases	GPathogenic
Select item 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +169 more	Copy number gain	See cases	GPathogenic
Select item 148292	GRCh38/hg38 1q44(chr1:247389261-248472496)x3	GCSAML, GCSAML-AS1 +49 more	Copy number gain	See cases	GLikely benign
Select item 154696	GRCh38/hg38 1q44(chr1:247404783-248472496)x3	GCSAML, GCSAML-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 3302656	NM_001004492.2(OR2B11):c.920G>T (p.Arg307Ile)	OR2B11 (R307I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547050	NM_001004492.2(OR2B11):c.910G>A (p.Ala304Thr)	OR2B11 (A304T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205062	NM_001004492.2(OR2B11):c.906G>C (p.Lys302Asn)	OR2B11 (K302N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221810	NM_001004492.2(OR2B11):c.766T>C (p.Tyr256His)	OR2B11 (Y256H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267424	NM_001004492.2(OR2B11):c.750G>T (p.Met250Ile)	OR2B11 (M250I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205061	NM_001004492.2(OR2B11):c.740C>G (p.Ser247Cys)	OR2B11 (S247C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205060	NM_001004492.2(OR2B11):c.713G>T (p.Arg238Leu)	OR2B11 (R238L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593736	NM_001004492.2(OR2B11):c.713G>A (p.Arg238Gln)	OR2B11 (R238Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514359	NM_001004492.2(OR2B11):c.601A>G (p.Thr201Ala)	OR2B11 (T201A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205059	NM_001004492.2(OR2B11):c.562G>A (p.Val188Met)	OR2B11 (V188M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 775699	NM_001004492.2(OR2B11):c.522G>A (p.Gly174=)	OR2B11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775700	NM_001004492.2(OR2B11):c.501G>C (p.Thr167=)	OR2B11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2313331	NM_001004492.2(OR2B11):c.488A>C (p.Gln163Pro)	OR2B11 (Q163P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205057	NM_001004492.2(OR2B11):c.483C>G (p.Phe161Leu)	OR2B11 (F161L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2326917	NM_001004492.2(OR2B11):c.472G>A (p.Gly158Ser)	OR2B11 (G158S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490589	NM_001004492.2(OR2B11):c.455C>T (p.Ala152Val)	OR2B11 (A152V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282519	NM_001004492.2(OR2B11):c.445G>C (p.Val149Leu)	OR2B11 (V149L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246415	NM_001004492.2(OR2B11):c.445G>A (p.Val149Met)	OR2B11 (V149M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205056	NM_001004492.2(OR2B11):c.412G>A (p.Val138Ile)	OR2B11 (V138I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3302657	NM_001004492.2(OR2B11):c.367G>T (p.Ala123Ser)	OR2B11 (A123S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331830	NM_001004492.2(OR2B11):c.283A>G (p.Thr95Ala)	OR2B11 (T95A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302658	NM_001004492.2(OR2B11):c.199C>T (p.Leu67Phe)	OR2B11 (L67F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205054	NM_001004492.2(OR2B11):c.155C>T (p.Ala52Val)	OR2B11 (A52V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2265228	NM_001004492.2(OR2B11):c.139G>T (p.Val47Phe)	OR2B11 (V47F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312170	NM_001004492.2(OR2B11):c.37C>T (p.Pro13Ser)	OR2B11 (P13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205055	NM_001004492.2(OR2B11):c.19A>G (p.Ser7Gly)	OR2B11 (S7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148935	GRCh37/hg19 1q44(chr1:246765135-249224684)x1	AHCTF1, CNST +55 more	Copy number loss	not provided	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 2685965	GRCh37/hg19 1q44(chr1:246983973-249224684)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
Select item 1809601	Single allele	ADSS2, AHCTF1 +72 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	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 1808196	GRCh37/hg19 1q44(chr1:247588318-248022379)x3	GCSAML, NLRP3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807822	GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3	ADSS2, AHCTF1 +69 more	Copy number gain	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 1710923	GRCh37/hg19 1q44(chr1:246850401-249205263)x3	AHCTF1, GCSAML +54 more	Copy number gain	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1411294	NC_000001.10:g.(?_247599252)_(248059833_?)dup	OR2G3, OR2W3 +11 more	Duplication	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 1328437	GRCh37/hg19 1q44(chr1:246820858-249213969)x3	AHCTF1, CNST +55 more	Copy number gain	not provided	GUncertain significance
Select item 1003853	NC_000001.10:g.(?_247607254)_(247617036_?)dup	NLRP3, OR2B11	Duplication	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 980425	GRCh37/hg19 1q44(chr1:246853199-249181899)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GLikely pathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 830398	NC_000001.11:g.(?_247418775)_(247453734_?)dup	NLRP3, OR2B11	Duplication	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 689213	GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	VN1R5, WDR64 +81 more	Copy number gain	not provided	GPathogenic
Select item 689078	GRCh37/hg19 1q44(chr1:247561707-247916265)x3	GCSAML, NLRP3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 688456	GRCh37/hg19 1q44(chr1:247576587-248688602)x4	GCSAML, NLRP3 +33 more	Copy number gain	not provided	GUncertain significance
Select item 687454	GRCh37/hg19 1q44(chr1:246565044-249224684)x1	AHCTF1, CNST +57 more	Copy number loss	not provided	GPathogenic
Select item 685533	GRCh37/hg19 1q44(chr1:247032527-248071583)x3	AHCTF1, GCSAML +19 more	Copy number gain	not provided	GUncertain significance
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685153	GRCh37/hg19 1q44(chr1:244379481-249224684)x1	ADSS2, AHCTF1 +65 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 625535	GRCh37/hg19 1q44(chr1:245341153-249212429)	AHCTF1, CNST +58 more	Copy number loss	not provided	GLikely pathogenic
Select item 565250	GRCh37/hg19 1q44(chr1:244797639-249224684)x1	AHCTF1, CATSPERE +63 more	Copy number loss	not provided	GPathogenic
Select item 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 443568	GRCh37/hg19 1q44(chr1:246753355-249224684)x3	AHCTF1, CNST +55 more	Copy number gain	See cases	GUncertain significance
Select item 443102	GRCh37/hg19 1q44(chr1:244197791-249224684)x4	ADSS2, AHCTF1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 442983	GRCh37/hg19 1q44(chr1:244281222-247789907)x3	ADSS2, AHCTF1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 442726	GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1	ADSS2, AHCTF1 +35 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic

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