OR8K3[gene] - ClinVar

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

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 57245	GRCh38/hg38 11q11-12.1(chr11:55445689-57114783)x1	LINC02735, LOC126861207 +50 more	Copy number loss	See cases	GBenign
Select item 145380	GRCh38/hg38 11q12.1(chr11:56149822-56770518)x3	LOC126861207, MIR6128 +23 more	Copy number gain	See cases	GBenign
Select item 2361173	NM_001005202.2(OR8K3):c.31G>A (p.Glu11Lys)	OR8K3 (E11K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214812	NM_001005202.2(OR8K3):c.44C>T (p.Thr15Met)	OR8K3 (T15M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303448	NM_001005202.2(OR8K3):c.55G>T (p.Asp19Tyr)	OR8K3 (D19Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206810	NM_001005202.2(OR8K3):c.97A>G (p.Met33Val)	OR8K3 (M33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323043	NM_001005202.2(OR8K3):c.137T>C (p.Ile46Thr)	OR8K3 (I46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206807	NM_001005202.2(OR8K3):c.226A>G (p.Thr76Ala)	OR8K3 (T76A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206808	NM_001005202.2(OR8K3):c.239A>G (p.Lys80Arg)	OR8K3 (K80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362629	NM_001005202.2(OR8K3):c.313C>T (p.Leu105Phe)	OR8K3 (L105F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559820	NM_001005202.2(OR8K3):c.323T>C (p.Ile108Thr)	OR8K3 (I108T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332267	NM_001005202.2(OR8K3):c.354G>A (p.Met118Ile)	OR8K3 (M118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389154	NM_001005202.2(OR8K3):c.494C>G (p.Thr165Ser)	OR8K3 (T165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477382	NM_001005202.2(OR8K3):c.509G>A (p.Gly170Asp)	OR8K3 (G170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232274	NM_001005202.2(OR8K3):c.524G>C (p.Ser175Thr)	OR8K3 (S175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589344	NM_001005202.2(OR8K3):c.614T>C (p.Ile205Thr)	OR8K3 (I205T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457418	NM_001005202.2(OR8K3):c.658C>G (p.Leu220Val)	OR8K3 (L220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379917	NM_001005202.2(OR8K3):c.677T>G (p.Leu226Arg)	OR8K3 (L226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280439	NM_001005202.2(OR8K3):c.698G>A (p.Arg233Lys)	OR8K3 (R233K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161483	NM_001005202.2(OR8K3):c.700C>A (p.Gln234Lys)	OR8K3 (Q234K)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2457472	NM_001005202.2(OR8K3):c.706G>A (p.Ala236Thr)	OR8K3 (A236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376878	NM_001005202.2(OR8K3):c.716C>T (p.Thr239Ile)	OR8K3 (T239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515039	NM_001005202.2(OR8K3):c.752A>G (p.Tyr251Cys)	OR8K3 (Y251C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303447	NM_001005202.2(OR8K3):c.784A>G (p.Lys262Glu)	OR8K3 (K262E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454273	NM_001005202.2(OR8K3):c.836T>A (p.Leu279Gln)	OR8K3 (L279Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206809	NM_001005202.2(OR8K3):c.881A>C (p.Lys294Thr)	OR8K3 (K294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391308	NM_001005202.2(OR8K3):c.907A>G (p.Thr303Ala)	OR8K3 (T303A)	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

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: 39