OR6N1[gene] - ClinVar

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Items: 64

	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 148245	GRCh38/hg38 1q23.1(chr1:158714213-158874430)x1	MNDA, OR6K3 +3 more	Copy number loss	See cases	GLikely benign
Select item 3303354	NM_001005185.2(OR6N1):c.888G>C (p.Glu296Asp)	OR6N1 (E296D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206560	NM_001005185.2(OR6N1):c.826G>A (p.Val276Met)	OR6N1 (V276M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206559	NM_001005185.2(OR6N1):c.823G>A (p.Ala275Thr)	OR6N1 (A275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206558	NM_001005185.2(OR6N1):c.811G>A (p.Asp271Asn)	OR6N1 (D271N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253246	NM_001005185.2(OR6N1):c.763A>T (p.Ile255Phe)	OR6N1 (I255F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253035	NM_001005185.2(OR6N1):c.743T>C (p.Val248Ala)	OR6N1 (V248A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206557	NM_001005185.2(OR6N1):c.719C>T (p.Thr240Met)	OR6N1 (T240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353013	NM_001005185.2(OR6N1):c.575C>T (p.Thr192Met)	OR6N1 (T192M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493330	NM_001005185.2(OR6N1):c.547C>A (p.Pro183Thr)	OR6N1 (P183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303352	NM_001005185.2(OR6N1):c.518G>A (p.Arg173His)	OR6N1 (R173H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510578	NM_001005185.2(OR6N1):c.517C>T (p.Arg173Cys)	OR6N1 (R173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236806	NM_001005185.2(OR6N1):c.517C>A (p.Arg173Ser)	OR6N1 (R173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618518	NM_001005185.2(OR6N1):c.478A>C (p.Ile160Leu)	OR6N1 (I160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303353	NM_001005185.2(OR6N1):c.418C>T (p.Leu140Phe)	OR6N1 (L140F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303356	NM_001005185.2(OR6N1):c.416C>T (p.Thr139Ile)	OR6N1 (T139I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206555	NM_001005185.2(OR6N1):c.383G>A (p.Arg128Gln)	OR6N1 (R128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478475	NM_001005185.2(OR6N1):c.353T>A (p.Met118Lys)	OR6N1 (M118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206554	NM_001005185.2(OR6N1):c.338A>G (p.Tyr113Cys)	OR6N1 (Y113C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302034	NM_001005185.2(OR6N1):c.296T>C (p.Leu99Pro)	OR6N1 (L99P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455278	NM_001005185.2(OR6N1):c.218A>G (p.Tyr73Cys)	OR6N1 (Y73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234527	NM_001005185.2(OR6N1):c.203T>A (p.Phe68Tyr)	OR6N1 (F68Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206553	NM_001005185.2(OR6N1):c.172C>A (p.Pro58Thr)	OR6N1 (P58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303355	NM_001005185.2(OR6N1):c.139C>A (p.Leu47Met)	OR6N1 (L47M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363462	NM_001005185.2(OR6N1):c.135A>G (p.Ile45Met)	OR6N1 (I45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320396	NM_001005185.2(OR6N1):c.128T>C (p.Leu43Pro)	OR6N1 (L43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333812	NM_001005185.2(OR6N1):c.47G>T (p.Gly16Val)	OR6N1 (G16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383395	NM_001005278.2(OR6N2):c.878G>A (p.Arg293His)	OR6N1, OR6N2 (R293H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206567	NM_001005278.2(OR6N2):c.872G>A (p.Ser291Asn)	OR6N1, OR6N2 (S291N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206566	NM_001005278.2(OR6N2):c.781C>T (p.Arg261Trp)	OR6N1, OR6N2 (R261W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620790	NM_001005278.2(OR6N2):c.593T>G (p.Val198Gly)	OR6N1, OR6N2 (V198G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329421	NM_001005278.2(OR6N2):c.583A>G (p.Asn195Asp)	OR6N1, OR6N2 (N195D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281319	NM_001005278.2(OR6N2):c.578C>A (p.Ser193Tyr)	OR6N1, OR6N2 (S193Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335741	NM_001005278.2(OR6N2):c.571G>T (p.Asp191Tyr)	OR6N1, OR6N2 (D191Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206565	NM_001005278.2(OR6N2):c.535T>G (p.Cys179Gly)	OR6N1, OR6N2 (C179G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318527	NM_001005278.2(OR6N2):c.458T>A (p.Phe153Tyr)	OR6N1, OR6N2 (F153Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403110	NM_001005278.2(OR6N2):c.431T>C (p.Met144Thr)	OR6N1, OR6N2 (M144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206564	NM_001005278.2(OR6N2):c.383G>A (p.Arg128Gln)	OR6N1, OR6N2 (R128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303357	NM_001005278.2(OR6N2):c.382C>T (p.Arg128Trp)	OR6N1, OR6N2 (R128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205643	NM_001005278.2(OR6N2):c.352A>G (p.Met118Val)	OR6N1, OR6N2 (M118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284546	NM_001005278.2(OR6N2):c.289T>C (p.Cys97Arg)	OR6N1, OR6N2 (C97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206563	NM_001005278.2(OR6N2):c.282T>A (p.Phe94Leu)	OR6N1, OR6N2 (F94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206562	NM_001005278.2(OR6N2):c.245T>C (p.Leu82Ser)	OR6N1, OR6N2 (L82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206561	NM_001005278.2(OR6N2):c.170C>A (p.Thr57Lys)	OR6N1, OR6N2 (T57K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639479	NM_001005278.2(OR6N2):c.106C>T (p.Leu36=)	OR6N1, OR6N2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2457083	NM_001005278.2(OR6N2):c.11A>G (p.Tyr4Cys)	OR6N1, OR6N2 (Y4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639480	NM_001005278.2(OR6N2):c.-6-1G>T	OR6N1, OR6N2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 156759	Single allele	OR6N1, MNDA	Deletion	Large for gestational age	Gnot provided
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 565189	GRCh37/hg19 1q23.1(chr1:158685035-158849405)x1	OR6N1, MNDA +3 more	Copy number loss	not provided	GLikely benign
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
Select item 441719	GRCh37/hg19 1q23.1-23.2(chr1:158685035-159301350)x3	ACKR1, AIM2 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 64