OR2L13[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 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 144301	GRCh38/hg38 1q44(chr1:247613108-248093562)x3	LOC102724446, LOC115804254 +20 more	Copy number gain	See cases	GBenign
Select item 149799	GRCh38/hg38 1q44(chr1:247613235-248521590)x3	LOC102724446, LOC115804254 +39 more	Copy number gain	See cases	GBenign
Select item 152683	GRCh38/hg38 1q44(chr1:247671583-248317448)x3	LOC115804254, LOC126806088 +25 more	Copy number gain	See cases	GBenign
Select item 150353	GRCh38/hg38 1q44(chr1:247682929-248521590)x3	LOC115804254, LOC126806088 +36 more	Copy number gain	See cases	GBenign
Select item 150051	GRCh38/hg38 1q44(chr1:247682929-248622297)x3	LOC115804254, LOC126806088 +39 more	Copy number gain	See cases	GBenign
Select item 146773	GRCh38/hg38 1q44(chr1:247682929-248093696)x3	LOC115804254, LOC129388811 +17 more	Copy number gain	See cases	GBenign
Select item 147939	GRCh38/hg38 1q44(chr1:247682931-248093562)x3	LOC115804254, LOC129388811 +17 more	Copy number gain	See cases	GBenign
Select item 57481	GRCh38/hg38 1q44(chr1:247682931-248609256)x3	LOC115804254, LOC126806088 +39 more	Copy number gain	See cases	GBenign
Select item 154541	GRCh38/hg38 1q44(chr1:247716624-248114768)x3	LOC115804254, LOC129388811 +17 more	Copy number gain	See cases	GBenign
Select item 149015	GRCh38/hg38 1q44(chr1:247798967-248376495)x1	LOC115804254, LOC126806088 +23 more	Copy number loss	See cases	GLikely benign
Select item 147276	GRCh38/hg38 1q44(chr1:247798967-248521608)x3	LOC115804254, LOC126806088 +31 more	Copy number gain	See cases	GBenign
Select item 152954	GRCh38/hg38 1q44(chr1:247930527-248622261)x3	LOC126806088, LOC129388812 +27 more	Copy number gain	See cases	GBenign
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 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 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 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 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 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 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 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 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 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 2340926	NM_001001963.1(OR2L8):c.700A>G (p.Lys234Glu)	OR2L13, OR2L8 (K234E)	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 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 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 2212617	NM_001001963.1(OR2L8):c.876G>T (p.Arg292Ser)	OR2L13, OR2L8 (R292S)	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 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 2207462	NM_001004491.2(OR2AK2):c.-38T>C	OR2AK2, OR2L13	Single nucleotide variant (5 prime UTR 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 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 719377	NM_001004491.2(OR2AK2):c.47G>A (p.Gly16Asp)	OR2AK2, OR2L13 (G31D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2264362	NM_001004491.2(OR2AK2):c.97A>C (p.Thr33Pro)	OR2AK2, OR2L13 (T33P)	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 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 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 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 2311711	NM_001004491.2(OR2AK2):c.296T>C (p.Ile99Thr)	OR2AK2, OR2L13 (I99T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719378	NM_001004491.2(OR2AK2):c.303G>A (p.Thr101=)	OR2AK2, OR2L13	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 2230194	NM_001004491.2(OR2AK2):c.368A>G (p.Tyr123Cys)	OR2AK2, OR2L13 (Y123C)	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 2221019	NM_001004491.2(OR2AK2):c.402G>A (p.Met134Ile)	OR2AK2, OR2L13 (M134I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 719379	NM_001004491.2(OR2AK2):c.495G>A (p.Gln165=)	OR2AK2, OR2L13	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2232430	NM_001004491.2(OR2AK2):c.574A>T (p.Thr192Ser)	OR2AK2, OR2L13 (T192S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719380	NM_001004491.2(OR2AK2):c.624A>G (p.Leu208=)	OR2AK2, OR2L13	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 2272158	NM_001004491.2(OR2AK2):c.761C>T (p.Thr254Ile)	OR2AK2, OR2L13 (T254I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353525	NM_001004491.2(OR2AK2):c.809G>A (p.Arg270Gln)	OR2AK2, OR2L13 (R270Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 719381	NM_001004491.2(OR2AK2):c.823G>A (p.Ala275Thr)	OR2AK2, OR2L13 (A290T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 2272680	NM_001004491.2(OR2AK2):c.893C>T (p.Thr298Met)	OR2AK2, OR2L13 (T298M)	Single nucleotide variant (missense variant +1 more)	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 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 145794	GRCh38/hg38 1q44(chr1:247995637-248042653)x1	OR2L13, OR2L2 +1 more	Copy number loss	See cases	GBenign/Likely benign
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 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 3205177	NM_001385855.1(OR2L2):c.64A>T (p.Ile22Phe)	OR2L13, OR2L2 (I22F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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