OR6K2[gene] - ClinVar

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

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 2317982	NM_001005279.3(OR6K2):c.965A>G (p.Lys322Arg)	OR6K2 (K322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206523	NM_001005279.3(OR6K2):c.959C>T (p.Ser320Leu)	OR6K2 (S320L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611884	NM_001005279.3(OR6K2):c.956C>T (p.Thr319Ile)	OR6K2 (T319I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559376	NM_001005279.3(OR6K2):c.952G>C (p.Gly318Arg)	OR6K2 (G318R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206522	NM_001005279.3(OR6K2):c.949C>G (p.Pro317Ala)	OR6K2 (P317A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161485	NM_001005279.3(OR6K2):c.947G>T (p.Arg316Ile)	OR6K2 (R316I)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2394398	NM_001005279.3(OR6K2):c.905T>C (p.Ile302Thr)	OR6K2 (I302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463704	NM_001005279.3(OR6K2):c.866T>C (p.Ile289Thr)	OR6K2 (I289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486791	NM_001005279.3(OR6K2):c.862C>T (p.Pro288Ser)	OR6K2 (P288S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206520	NM_001005279.3(OR6K2):c.853T>A (p.Phe285Ile)	OR6K2 (F285I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381484	NM_001005279.3(OR6K2):c.833C>A (p.Ala278Asp)	OR6K2 (A278D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231774	NM_001005279.3(OR6K2):c.779A>C (p.Tyr260Ser)	OR6K2 (Y260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206518	NM_001005279.3(OR6K2):c.776T>C (p.Met259Thr)	OR6K2 (M259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303339	NM_001005279.3(OR6K2):c.703C>T (p.Arg235Cys)	OR6K2 (R235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233243	NM_001005279.3(OR6K2):c.674T>C (p.Val225Ala)	OR6K2 (V225A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 441118	NM_001005279.3(OR6K2):c.669_670insA (p.Ala224fs)	OR6K2 (A224fs)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 2272326	NM_001005279.3(OR6K2):c.659A>T (p.Asp220Val)	OR6K2 (D220V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303341	NM_001005279.3(OR6K2):c.656A>G (p.Tyr219Cys)	OR6K2 (Y219C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336763	NM_001005279.3(OR6K2):c.608T>A (p.Ile203Asn)	OR6K2 (I203N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208463	NM_001005279.3(OR6K2):c.596T>C (p.Val199Ala)	OR6K2 (V199A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605176	NM_001005279.3(OR6K2):c.588G>A (p.Met196Ile)	OR6K2 (M196I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405839	NM_001005279.3(OR6K2):c.575G>T (p.Arg192Leu)	OR6K2 (R192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454761	NM_001005279.3(OR6K2):c.565A>G (p.Thr189Ala)	OR6K2 (T189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303344	NM_001005279.3(OR6K2):c.479C>T (p.Ala160Val)	OR6K2 (A160V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376965	NM_001005279.3(OR6K2):c.464C>T (p.Pro155Leu)	OR6K2 (P155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225370	NM_001005279.3(OR6K2):c.379A>G (p.Ser127Gly)	OR6K2 (S127G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527301	NM_001005279.3(OR6K2):c.359A>G (p.Asp120Gly)	OR6K2 (D120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272325	NM_001005279.3(OR6K2):c.325T>A (p.Cys109Ser)	OR6K2 (C109S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524319	NM_001005279.3(OR6K2):c.319G>A (p.Gly107Ser)	OR6K2 (G107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214450	NM_001005279.3(OR6K2):c.281A>G (p.Asn94Ser)	OR6K2 (N94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303342	NM_001005279.3(OR6K2):c.259A>C (p.Ser87Arg)	OR6K2 (S87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303343	NM_001005279.3(OR6K2):c.221C>T (p.Thr74Ile)	OR6K2 (T74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325070	NM_001005279.3(OR6K2):c.200C>T (p.Ser67Phe)	OR6K2 (S67F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206516	NM_001005279.3(OR6K2):c.192T>G (p.Ser64Arg)	OR6K2 (S64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376891	NM_001005279.3(OR6K2):c.158C>G (p.Thr53Ser)	OR6K2 (T53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554734	NM_001005279.3(OR6K2):c.113T>C (p.Ile38Thr)	OR6K2 (I38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206519	NM_001005279.3(OR6K2):c.80G>T (p.Cys27Phe)	OR6K2 (C27F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206517	NM_001005279.3(OR6K2):c.61T>A (p.Trp21Arg)	OR6K2 (W21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221755	NM_001005279.3(OR6K2):c.40T>A (p.Phe14Ile)	OR6K2 (F14I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303340	NM_001005279.3(OR6K2):c.10C>T (p.Pro4Ser)	OR6K2 (P4S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3247947	NC_000001.10:g.(?_158581054)_(158819027_?)del	MNDA, OR6K2 +5 more	Deletion	not provided	GPathogenic
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1340245	GRCh37/hg19 1q23.1(chr1:158489546-158889411)x1	MNDA, OR10X1 +9 more	Copy number loss	not provided	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 814132	GRCh37/hg19 1q23.1(chr1:158489545-158889411)x1	OR10X1, OR10Z1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 565188	GRCh37/hg19 1q23.1(chr1:158489545-158901383)x1	OR6Y1, OR10Z1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 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: 54