ClinVar for Gene (Select 391112) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303375	NM_001005189.2(OR6Y1):c.286A>C (p.Ser96Arg)	OR6Y1 (S96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303374	NM_001005189.2(OR6Y1):c.305G>T (p.Cys102Phe)	OR6Y1 (C102F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3206619	NM_001005189.2(OR6Y1):c.715C>T (p.Arg239Cys)	OR6Y1 (R239C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206618	NM_001005189.2(OR6Y1):c.700C>T (p.Pro234Ser)	OR6Y1 (P234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206617	NM_001005189.2(OR6Y1):c.568C>T (p.Leu190Phe)	OR6Y1 (L190F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206616	NM_001005189.2(OR6Y1):c.539A>G (p.Asn180Ser)	OR6Y1 (N180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206615	NM_001005189.2(OR6Y1):c.46C>G (p.Arg16Gly)	OR6Y1 (R16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206614	NM_001005189.2(OR6Y1):c.305G>A (p.Cys102Tyr)	OR6Y1 (C102Y)	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 2617565	NM_001005189.2(OR6Y1):c.262G>A (p.Val88Ile)	OR6Y1 (V88I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609459	NM_001005189.2(OR6Y1):c.924G>C (p.Lys308Asn)	OR6Y1 (K308N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551306	NM_001005189.2(OR6Y1):c.46C>T (p.Arg16Cys)	OR6Y1 (R16C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508959	NM_001005189.2(OR6Y1):c.978A>G (p.Ter326=)	OR6Y1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2483207	NM_001005189.2(OR6Y1):c.652G>A (p.Val218Ile)	OR6Y1 (V218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460719	NM_001005189.2(OR6Y1):c.897C>A (p.Asn299Lys)	OR6Y1 (N299K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459925	NM_001005189.2(OR6Y1):c.104T>C (p.Ile35Thr)	OR6Y1 (I35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454988	NM_001005189.2(OR6Y1):c.479C>T (p.Thr160Ile)	OR6Y1 (T160I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411361	NM_001005189.2(OR6Y1):c.133C>G (p.Leu45Val)	OR6Y1 (L45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364357	NM_001005189.2(OR6Y1):c.481G>T (p.Ala161Ser)	OR6Y1 (A161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359509	NM_001005189.2(OR6Y1):c.37G>A (p.Val13Met)	OR6Y1 (V13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359053	NM_001005189.2(OR6Y1):c.637G>T (p.Ala213Ser)	OR6Y1 (A213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345431	NM_001005189.2(OR6Y1):c.432G>C (p.Gln144His)	OR6Y1 (Q144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316760	NM_001005189.2(OR6Y1):c.169G>T (p.Asp57Tyr)	OR6Y1 (D57Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314002	NM_001005189.2(OR6Y1):c.540T>A (p.Asn180Lys)	OR6Y1 (N180K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302605	NM_001005189.2(OR6Y1):c.810G>T (p.Met270Ile)	OR6Y1 (M270I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290654	NM_001005189.2(OR6Y1):c.859G>T (p.Val287Phe)	OR6Y1 (V287F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263099	NM_001005189.2(OR6Y1):c.50T>G (p.Phe17Cys)	OR6Y1 (F17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208871	NM_001005189.2(OR6Y1):c.146T>C (p.Leu49Pro)	OR6Y1 (L49P)	Single nucleotide variant (missense variant)	not specified	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
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

ClinVar

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Links from Gene

Items: 39