OR5L2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145000	GRCh38/hg38 11q11-12.1(chr11:55265785-56230226)x3	LOC126861207, OR10AG1 +28 more	Copy number gain	See cases	GBenign
Select item 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 149770	GRCh38/hg38 11q11-12.1(chr11:55316591-55855055)x3	OR4A15, OR4A16 +13 more	Copy number gain	See cases	GLikely benign
Select item 161063	GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3	LOC126861207, OR10AG1 +27 more	Copy number gain	See cases	GBenign
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 32870	GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3	LOC126861207, OR10AG1 +27 more	Copy number gain	See cases	GBenign
Select item 57245	GRCh38/hg38 11q11-12.1(chr11:55445689-57114783)x1	LINC02735, LOC126861207 +50 more	Copy number loss	See cases	GBenign
Select item 2293124	NM_001004739.1(OR5L2):c.4G>A (p.Gly2Ser)	OR5L2 (G2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327648	NM_001004739.1(OR5L2):c.71G>A (p.Arg24Lys)	OR5L2 (R24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599217	NM_001004739.1(OR5L2):c.104A>G (p.Tyr35Cys)	OR5L2 (Y35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298757	NM_001004739.1(OR5L2):c.109G>C (p.Val37Leu)	OR5L2 (V37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407864	NM_001004739.1(OR5L2):c.113C>G (p.Thr38Arg)	OR5L2 (T38R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3303230	NM_001004739.1(OR5L2):c.147T>G (p.Ile49Met)	OR5L2 (I49M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487099	NM_001004739.1(OR5L2):c.158C>G (p.Ser53Cys)	OR5L2 (S53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411202	NM_001004739.1(OR5L2):c.176T>C (p.Val59Ala)	OR5L2 (V59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303227	NM_001004739.1(OR5L2):c.181T>C (p.Phe61Leu)	OR5L2 (F61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376574	NM_001004739.1(OR5L2):c.203T>C (p.Phe68Ser)	OR5L2 (F68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208764	NM_001004739.1(OR5L2):c.246G>C (p.Leu82Phe)	OR5L2 (L82F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206323	NM_001004739.1(OR5L2):c.261C>G (p.Asn87Lys)	OR5L2 (N87K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303228	NM_001004739.1(OR5L2):c.262A>G (p.Lys88Glu)	OR5L2 (K88E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206324	NM_001004739.1(OR5L2):c.356C>G (p.Ala119Gly)	OR5L2 (A119G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339569	NM_001004739.1(OR5L2):c.361G>T (p.Asp121Tyr)	OR5L2 (D121Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559819	NM_001004739.1(OR5L2):c.502T>G (p.Phe168Val)	OR5L2 (F168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303229	NM_001004739.1(OR5L2):c.531C>A (p.Phe177Leu)	OR5L2 (F177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206325	NM_001004739.1(OR5L2):c.578C>T (p.Thr193Ile)	OR5L2 (T193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236496	NM_001004739.1(OR5L2):c.644T>G (p.Leu215Arg)	OR5L2 (L215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597028	NM_001004739.1(OR5L2):c.763A>G (p.Ile255Val)	OR5L2 (I255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346009	NM_001004739.1(OR5L2):c.770A>C (p.Tyr257Ser)	OR5L2 (Y257S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206326	NM_001004739.1(OR5L2):c.794G>T (p.Gly265Val)	OR5L2 (G265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206327	NM_001004739.1(OR5L2):c.835A>C (p.Thr279Pro)	OR5L2 (T279P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274892	NM_001004739.1(OR5L2):c.920C>A (p.Ser307Tyr)	OR5L2 (S307Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340449	GRCh37/hg19 11p11.12-q12.1(chr11:51164494-56879839)x3	OR10AG1, OR4A15 +47 more	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 442071	GRCh37/hg19 11p11.12-q12.1(chr11:51183548-56977098)x3	LRRC55, OR10AG1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 395409	GRCh37/hg19 11q11-12.1(chr11:55033164-55980347)x3	OR10AG1, OR4A15 +25 more	Copy number gain	See cases	GBenign
Select item 395111	GRCh37/hg19 11q11-12.1(chr11:55029738-55980347)x3	OR10AG1, OR4A15 +25 more	Copy number gain	See cases	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 43