ClinVar for Gene (Select 284521) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302726	NM_001001963.1(OR2L8):c.461A>G (p.Asn154Ser)	OR2L13, OR2L8 (N154S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302725	NM_001001963.1(OR2L8):c.841A>T (p.Thr281Ser)	OR2L13, OR2L8 (T281S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302724	NM_001001963.1(OR2L8):c.912T>G (p.Ser304Arg)	OR2L13, OR2L8 (S304R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302723	NM_001001963.1(OR2L8):c.143T>C (p.Ile48Thr)	OR2L13, OR2L8 (I48T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302722	NM_001004687.2(OR2L3):c.280A>G (p.Thr94Ala)	OR2L3, OR2L13 (T94A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302721	NM_001004687.2(OR2L3):c.401G>A (p.Arg134His)	OR2L3, OR2L13 (R134H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302720	NM_001385855.1(OR2L2):c.889A>T (p.Met297Leu)	OR2L13, OR2L2 (M297L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302719	NM_001385855.1(OR2L2):c.245A>G (p.Tyr82Cys)	OR2L13, OR2L2 (Y82C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302718	NM_001385855.1(OR2L2):c.232C>A (p.Pro78Thr)	OR2L13, OR2L2 (P78T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302717	NM_001385855.1(OR2L2):c.682C>A (p.His228Asn)	OR2L13, OR2L2 (H228N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302716	NM_001385855.1(OR2L2):c.368T>C (p.Val123Ala)	OR2L13, OR2L2 (V123A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302715	NM_001385855.1(OR2L2):c.740T>C (p.Val247Ala)	OR2L13, OR2L2 (V247A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302714	NM_001395936.1(OR2L13):c.259G>A (p.Gly87Ser)	OR2L13 (G87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302713	NM_001395936.1(OR2L13):c.883G>A (p.Glu295Lys)	OR2L13 (E295K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302712	NM_001395936.1(OR2L13):c.83G>A (p.Cys28Tyr)	OR2L13 (C28Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302711	NM_001395936.1(OR2L13):c.306C>A (p.Phe102Leu)	OR2L13 (F102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302710	NM_001395936.1(OR2L13):c.653G>T (p.Gly218Val)	OR2L13 (G218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302651	NM_001004491.2(OR2AK2):c.902T>C (p.Val301Ala)	OR2AK2, OR2L13 (V301A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302650	NM_001004491.2(OR2AK2):c.464A>G (p.Asn155Ser)	OR2AK2, OR2L13 (N155S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205184	NM_001001963.1(OR2L8):c.803C>T (p.Thr268Ile)	OR2L13, OR2L8 (T268I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205183	NM_001001963.1(OR2L8):c.389A>T (p.His130Leu)	OR2L13, OR2L8 (H130L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205182	NM_001001963.1(OR2L8):c.257A>C (p.His86Pro)	OR2L13, OR2L8 (H86P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205181	NM_001004687.2(OR2L3):c.883G>A (p.Glu295Lys)	OR2L13, OR2L3 (E295K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205180	NM_001004687.2(OR2L3):c.847A>G (p.Met283Val)	OR2L13, OR2L3 (M283V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205179	NM_001004687.2(OR2L3):c.653G>T (p.Gly218Val)	OR2L13, OR2L3 (G218V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205178	NM_001385855.1(OR2L2):c.814A>G (p.Ile272Val)	OR2L13, OR2L2 (I272V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205177	NM_001385855.1(OR2L2):c.64A>T (p.Ile22Phe)	OR2L13, OR2L2 (I22F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205176	NM_001395936.1(OR2L13):c.94C>T (p.Leu32Phe)	OR2L13 (L32F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205175	NM_001395936.1(OR2L13):c.757C>T (p.Pro253Ser)	OR2L13 (P253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205174	NM_001395936.1(OR2L13):c.403A>G (p.Met135Val)	OR2L13 (M135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205173	NM_001395936.1(OR2L13):c.389A>G (p.Tyr130Cys)	OR2L13 (Y130C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205172	NM_001395936.1(OR2L13):c.361C>T (p.Arg121Cys)	OR2L13 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205171	NM_001395936.1(OR2L13):c.259G>T (p.Gly87Cys)	OR2L13 (G87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205170	NM_001395936.1(OR2L13):c.167C>A (p.Thr56Lys)	OR2L13 (T56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205048	NM_001004491.2(OR2AK2):c.953C>T (p.Ser318Phe)	OR2AK2, OR2L13 (S318F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205046	NM_001004491.2(OR2AK2):c.839T>C (p.Ile280Thr)	OR2AK2, OR2L13 (I280T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205045	NM_001004491.2(OR2AK2):c.701A>C (p.Gln234Pro)	OR2AK2, OR2L13 (Q234P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205044	NM_001004491.2(OR2AK2):c.659G>A (p.Arg220His)	OR2AK2, OR2L13 (R220H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205043	NM_001004491.2(OR2AK2):c.20G>A (p.Ser7Asn)	OR2AK2, OR2L13 (S7N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205042	NM_001004491.2(OR2AK2):c.437C>T (p.Ala146Val)	OR2AK2, OR2L13 (A146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205041	NM_001004491.2(OR2AK2):c.359A>G (p.Tyr120Cys)	OR2AK2, OR2L13 (Y120C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205040	NM_001004491.2(OR2AK2):c.353T>G (p.Met118Arg)	OR2AK2, OR2L13 (M118R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205039	NM_001004491.2(OR2AK2):c.256C>T (p.Leu86Phe)	OR2AK2, OR2L13 (L86F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205038	NM_001004491.2(OR2AK2):c.202A>G (p.Ile68Val)	OR2AK2, OR2L13 (I68V)	Single nucleotide variant (missense variant +1 more)	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 2685987	GRCh37/hg19 1q44(chr1:247755802-248142441)x1	OR2L13, OR2G3 +10 more	Copy number loss	not provided	GUncertain significance
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 2616708	NM_001004491.2(OR2AK2):c.220A>G (p.Ile74Val)	OR2AK2, OR2L13 (I74V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606671	NM_001004687.2(OR2L3):c.322G>A (p.Gly108Ser)	OR2L13, OR2L3 (G108S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603457	NM_001395936.1(OR2L13):c.413T>C (p.Met138Thr)	OR2L13 (M138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600888	NM_001385855.1(OR2L2):c.62G>A (p.Arg21Lys)	OR2L13, OR2L2 (R21K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599525	NM_001385855.1(OR2L2):c.499T>C (p.Tyr167His)	OR2L13, OR2L2 (Y167H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594505	NM_001004687.2(OR2L3):c.262A>G (p.Asn88Asp)	OR2L13, OR2L3 (N88D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593702	NM_001385855.1(OR2L2):c.169C>T (p.Pro57Ser)	OR2L13, OR2L2 (P57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588126	NM_001004687.2(OR2L3):c.929G>T (p.Gly310Val)	OR2L13, OR2L3 (G310V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 2570370	NM_001004687.2(OR2L3):c.655C>T (p.Arg219Trp)	OR2L13, OR2L3 (R219W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570295	NM_001004491.2(OR2AK2):c.658C>T (p.Arg220Cys)	OR2AK2, OR2L13 (R220C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562510	NM_001004687.2(OR2L3):c.359A>G (p.Asp120Gly)	OR2L13, OR2L3 (D120G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559101	NM_001001963.1(OR2L8):c.284G>T (p.Gly95Val)	OR2L13, OR2L8 (G95V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559100	NM_001385855.1(OR2L2):c.887T>C (p.Val296Ala)	OR2L13, OR2L2 (V296A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546043	NM_001001963.1(OR2L8):c.916A>G (p.Arg306Gly)	OR2L13, OR2L8 (R306G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543722	NM_001395936.1(OR2L13):c.850C>T (p.Leu284Phe)	OR2L13 (L284F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540824	NM_001385855.1(OR2L2):c.58T>C (p.Ser20Pro)	OR2L13, OR2L2 (S20P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540823	NM_001004491.2(OR2AK2):c.383A>G (p.His128Arg)	OR2AK2, OR2L13 (H128R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540594	NM_001004491.2(OR2AK2):c.700C>A (p.Gln234Lys)	OR2AK2, OR2L13 (Q234K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532986	NM_001001963.1(OR2L8):c.409A>G (p.Lys137Glu)	OR2L13, OR2L8 (K137E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524933	NM_001395936.1(OR2L13):c.91A>G (p.Ile31Val)	OR2L13 (I31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520854	NM_001004687.2(OR2L3):c.887T>A (p.Val296Glu)	OR2L13, OR2L3 (V296E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520488	NM_001004491.2(OR2AK2):c.172C>T (p.Pro58Ser)	OR2AK2, OR2L13 (P58S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515221	NM_001004687.2(OR2L3):c.836C>T (p.Thr279Ile)	OR2L13, OR2L3 (T279I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2509549	NM_001385855.1(OR2L2):c.307T>G (p.Phe103Val)	OR2L13, OR2L2 (F103V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
Select item 2493022	NM_001004491.2(OR2AK2):c.638C>G (p.Ala213Gly)	OR2AK2, OR2L13 (A213G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485042	NM_001001963.1(OR2L8):c.356A>T (p.Tyr119Phe)	OR2L13, OR2L8 (Y119F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478074	NM_001395936.1(OR2L13):c.656G>A (p.Arg219Gln)	OR2L13 (R219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468712	NM_001395936.1(OR2L13):c.578T>G (p.Val193Gly)	OR2L13 (V193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464166	NM_001395936.1(OR2L13):c.485C>T (p.Ala162Val)	OR2L13 (A162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463806	NM_001395936.1(OR2L13):c.139C>T (p.Leu47Phe)	OR2L13 (L47F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459636	NM_001001963.1(OR2L8):c.676C>T (p.His226Tyr)	OR2L13, OR2L8 (H226Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458486	NM_001395936.1(OR2L13):c.139C>G (p.Leu47Val)	OR2L13 (L47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409853	NM_001395936.1(OR2L13):c.779G>A (p.Arg260Gln)	OR2L13 (R260Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406742	NM_001001963.1(OR2L8):c.547A>G (p.Met183Val)	OR2L13, OR2L8 (M183V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401895	NM_001385855.1(OR2L2):c.217A>C (p.Ile73Leu)	OR2L13, OR2L2 (I73L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399246	NM_001385855.1(OR2L2):c.89T>C (p.Ile30Thr)	OR2L13, OR2L2 (I30T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396929	NM_001004687.2(OR2L3):c.754G>A (p.Ala252Thr)	OR2L13, OR2L3 (A252T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392516	NM_001385855.1(OR2L2):c.408C>A (p.Ser136Arg)	OR2L13, OR2L2 (S136R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392515	NM_001385855.1(OR2L2):c.405A>G (p.Ile135Met)	OR2L13, OR2L2 (I135M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2391765	NM_001001963.1(OR2L8):c.634G>T (p.Gly212Cys)	OR2L13, OR2L8 (G212C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377223	NM_001004491.2(OR2AK2):c.-26T>C	OR2AK2, OR2L13	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2377006	NM_001385855.1(OR2L2):c.919A>G (p.Ile307Val)	OR2L13, OR2L2 (I307V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371507	NM_001385855.1(OR2L2):c.226A>G (p.Ile76Val)	OR2L13, OR2L2 (I76V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368401	NM_001385855.1(OR2L2):c.778C>T (p.Arg260Cys)	OR2L13, OR2L2 (R260C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367733	NM_001001963.1(OR2L8):c.722G>A (p.Ser241Asn)	OR2L13, OR2L8 (S241N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366800	NM_001385855.1(OR2L2):c.650A>G (p.Tyr217Cys)	OR2L13, OR2L2 (Y217C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363630	NM_001385855.1(OR2L2):c.322G>A (p.Val108Ile)	OR2L13, OR2L2 (V108I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360338	NM_001395936.1(OR2L13):c.347C>G (p.Ser116Cys)	OR2L13 (S116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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