OR10J5[gene] - ClinVar

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Items: 33

	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 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3204597	NM_001004469.1(OR10J5):c.881A>G (p.Lys294Arg)	OR10J5 (K294R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269235	NM_001004469.1(OR10J5):c.842C>A (p.Thr281Asn)	OR10J5 (T281N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204596	NM_001004469.1(OR10J5):c.835A>G (p.Ile279Val)	OR10J5 (I279V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521549	NM_001004469.1(OR10J5):c.796T>A (p.Ser266Thr)	OR10J5 (S266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601755	NM_001004469.1(OR10J5):c.781C>T (p.Pro261Ser)	OR10J5 (P261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264446	NM_001004469.1(OR10J5):c.680T>C (p.Ile227Thr)	OR10J5 (I227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242609	NM_001004469.1(OR10J5):c.641T>A (p.Phe214Tyr)	OR10J5 (F214Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482923	NM_001004469.1(OR10J5):c.598G>C (p.Gly200Arg)	OR10J5 (G200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780786	NM_001004469.1(OR10J5):c.596A>T (p.Tyr199Phe)	OR10J5 (Y199F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3302430	NM_001004469.1(OR10J5):c.586A>G (p.Ile196Val)	OR10J5 (I196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376168	NM_001004469.1(OR10J5):c.563G>A (p.Cys188Tyr)	OR10J5 (C188Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477301	NM_001004469.1(OR10J5):c.542A>G (p.Tyr181Cys)	OR10J5 (Y181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406159	NM_001004469.1(OR10J5):c.538A>G (p.Ile180Val)	OR10J5 (I180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204595	NM_001004469.1(OR10J5):c.394T>C (p.Tyr132His)	OR10J5 (Y132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554097	NM_001004469.1(OR10J5):c.352A>G (p.Met118Val)	OR10J5 (M118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600860	NM_001004469.1(OR10J5):c.335G>A (p.Cys112Tyr)	OR10J5 (C112Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455652	NM_001004469.1(OR10J5):c.330T>A (p.Asn110Lys)	OR10J5 (N110K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311272	NM_001004469.1(OR10J5):c.274A>G (p.Ile92Val)	OR10J5 (I92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483243	NM_001004469.1(OR10J5):c.260T>C (p.Phe87Ser)	OR10J5 (F87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204594	NM_001004469.1(OR10J5):c.229A>C (p.Ile77Leu)	OR10J5 (I77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347972	NM_001004469.1(OR10J5):c.212C>T (p.Thr71Met)	OR10J5 (T71M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603571	NM_001004469.1(OR10J5):c.148T>G (p.Cys50Gly)	OR10J5 (C50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270336	NM_001004469.1(OR10J5):c.77C>A (p.Thr26Asn)	OR10J5 (T26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	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 565190	GRCh37/hg19 1q23.2(chr1:159475320-159621206)x1	APCS, OR10J5	Copy number loss	not provided	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 33