OR10A2[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 2257780	NM_001004460.2(OR10A2):c.70G>A (p.Val24Ile)	OR10A2 (V24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537462	NM_001004460.2(OR10A2):c.80T>C (p.Met27Thr)	OR10A2 (M27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290279	NM_001004460.2(OR10A2):c.124C>G (p.Leu42Val)	OR10A2 (L42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302365	NM_001004460.2(OR10A2):c.191T>C (p.Ile64Thr)	OR10A2 (I64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509042	NM_001004460.2(OR10A2):c.226G>C (p.Asp76His)	OR10A2 (D76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371099	NM_001004460.2(OR10A2):c.261G>T (p.Gln87His)	OR10A2 (Q87H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305315	NM_001004460.2(OR10A2):c.354C>G (p.His118Gln)	OR10A2 (H118Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305316	NM_001004460.2(OR10A2):c.355T>A (p.Tyr119Asn)	OR10A2 (Y119N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204445	NM_001004460.2(OR10A2):c.386C>A (p.Ala129Asp)	OR10A2 (A129D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250235	NM_001004460.2(OR10A2):c.390A>C (p.Lys130Asn)	OR10A2 (K130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204446	NM_001004460.2(OR10A2):c.508C>A (p.Pro170Thr)	OR10A2 (P170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204447	NM_001004460.2(OR10A2):c.533A>T (p.Asp178Val)	OR10A2 (D178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204448	NM_001004460.2(OR10A2):c.534C>G (p.Asp178Glu)	OR10A2 (D178E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207575	NM_001004460.2(OR10A2):c.608G>A (p.Cys203Tyr)	OR10A2 (C203Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204449	NM_001004460.2(OR10A2):c.613T>C (p.Tyr205His)	OR10A2 (Y205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563706	NM_001004460.2(OR10A2):c.623T>C (p.Ile208Thr)	OR10A2 (I208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204450	NM_001004460.2(OR10A2):c.650C>T (p.Ser217Leu)	OR10A2 (S217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333515	NM_001004460.2(OR10A2):c.707C>T (p.Ser236Phe)	OR10A2 (S236F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345404	NM_001004460.2(OR10A2):c.721T>C (p.Ser241Pro)	OR10A2 (S241P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531999	NM_001004460.2(OR10A2):c.766G>A (p.Glu256Lys)	OR10A2 (E256K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318400	NM_001004460.2(OR10A2):c.790T>C (p.Ser264Pro)	OR10A2 (S264P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233307	NM_001004460.2(OR10A2):c.845A>G (p.Asn282Ser)	OR10A2 (N282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323294	NM_001004460.2(OR10A2):c.884C>T (p.Ala295Val)	OR10A2 (A295V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292663	NM_001004460.2(OR10A2):c.904A>G (p.Ile302Val)	OR10A2 (I302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684635	GRCh37/hg19 11p15.4(chr11:6801941-7136661)x3	NLRP14, OR10A2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1340891	GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3	ARFIP2, DCHS1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980406	GRCh37/hg19 11p15.4(chr11:6839027-6908897)x1	OR10A5, OR10A2 +1 more	Copy number loss	not provided	GLikely benign
Select item 815405	GRCh37/hg19 11p15.4(chr11:6890900-6969676)x1	ZNF215, OR10A2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 685522	GRCh37/hg19 11p15.4(chr11:6754444-6982365)x1	OR10A2, OR10A4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 666458	GRCh37/hg19 11p15.4(chr11:6851550-6984119)x1	OR10A2, OR10A4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 45