OR6K3[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +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 2305561	NM_001005327.3(OR6K3):c.937C>A (p.Pro313Thr)	OR6K3 (P313T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382500	NM_001005327.3(OR6K3):c.910T>C (p.Phe304Leu)	OR6K3 (F304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206537	NM_001005327.3(OR6K3):c.896C>T (p.Ala299Val)	OR6K3 (A299V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206536	NM_001005327.3(OR6K3):c.869G>A (p.Ser290Asn)	OR6K3 (S290N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324547	NM_001005327.3(OR6K3):c.797C>T (p.Pro266Leu)	OR6K3 (P266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382151	NM_001005327.3(OR6K3):c.794A>T (p.Tyr265Phe)	OR6K3 (Y265F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206535	NM_001005327.3(OR6K3):c.778C>T (p.Arg260Cys)	OR6K3 (R260C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206534	NM_001005327.3(OR6K3):c.770T>G (p.Met257Arg)	OR6K3 (M257R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336839	NM_001005327.3(OR6K3):c.754G>A (p.Gly252Ser)	OR6K3 (G252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206533	NM_001005327.3(OR6K3):c.725G>A (p.Gly242Asp)	OR6K3 (G242D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206532	NM_001005327.3(OR6K3):c.715A>C (p.Thr239Pro)	OR6K3 (T239P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206531	NM_001005327.3(OR6K3):c.616A>G (p.Ile206Val)	OR6K3 (I206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206530	NM_001005327.3(OR6K3):c.595G>A (p.Asp199Asn)	OR6K3 (D199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206529	NM_001005327.3(OR6K3):c.575C>T (p.Thr192Met)	OR6K3 (T192M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306211	NM_001005327.3(OR6K3):c.534C>A (p.Phe178Leu)	OR6K3 (F178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367146	NM_001005327.3(OR6K3):c.454G>A (p.Gly152Ser)	OR6K3 (G152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206528	NM_001005327.3(OR6K3):c.445T>C (p.Cys149Arg)	OR6K3 (C149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238498	NM_001005327.3(OR6K3):c.416G>A (p.Arg139Gln)	OR6K3 (R139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206526	NM_001005327.3(OR6K3):c.415C>T (p.Arg139Trp)	OR6K3 (R139W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555171	NM_001005327.3(OR6K3):c.402G>A (p.Met134Ile)	OR6K3 (M134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203986	NM_001005327.3(OR6K3):c.395A>G (p.Tyr132Cys)	OR6K3 (Y132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383371	NM_001005327.3(OR6K3):c.392G>A (p.Arg131His)	OR6K3 (R131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480255	NM_001005327.3(OR6K3):c.193A>T (p.Ile65Leu)	OR6K3 (I65L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409957	NM_001005327.3(OR6K3):c.154G>A (p.Asp52Asn)	OR6K3 (D52N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206201	NM_001005327.3(OR6K3):c.154G>T (p.Asp52Tyr)	OR6K3 (D52Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206524	NM_001005327.3(OR6K3):c.100A>G (p.Ile34Val)	OR6K3 (I34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365952	NM_001005327.3(OR6K3):c.94C>T (p.Leu32Phe)	OR6K3 (L32F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237905	NM_001005327.3(OR6K3):c.44C>A (p.Thr15Asn)	OR6K3 (T15N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206527	NM_001005327.3(OR6K3):c.41T>C (p.Phe14Ser)	OR6K3 (F14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557643	NM_001005327.3(OR6K3):c.9C>G (p.Ser3Arg)	OR6K3 (S3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593038	NM_001005327.3(OR6K3):c.8G>A (p.Ser3Asn)	OR6K3 (S3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	TAGLN2, TOMM40L +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	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +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: 46