OR52A5[gene] - ClinVar

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Items: 51

	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 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 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 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 2389252	NM_001005160.3(OR52A5):c.947C>T (p.Thr316Ile)	OR52A5 (T316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404459	NM_001005160.3(OR52A5):c.890T>G (p.Val297Gly)	OR52A5 (V297G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303052	NM_001005160.3(OR52A5):c.838T>A (p.Ser280Thr)	OR52A5 (S280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205900	NM_001005160.3(OR52A5):c.832C>A (p.Leu278Ile)	OR52A5 (L278I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480162	NM_001005160.3(OR52A5):c.812T>C (p.Ile271Thr)	OR52A5 (I271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283249	NM_001005160.3(OR52A5):c.776T>C (p.Phe259Ser)	OR52A5 (F259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283248	NM_001005160.3(OR52A5):c.775T>G (p.Phe259Val)	OR52A5 (F259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263600	NM_001005160.3(OR52A5):c.754C>G (p.Leu252Val)	OR52A5 (L252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370883	NM_001005160.3(OR52A5):c.690G>T (p.Gln230His)	OR52A5 (Q230H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332392	NM_001005160.3(OR52A5):c.607C>A (p.Leu203Ile)	OR52A5 (L203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339827	NM_001005160.3(OR52A5):c.602A>G (p.Tyr201Cys)	OR52A5 (Y201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205899	NM_001005160.3(OR52A5):c.568C>G (p.Leu190Val)	OR52A5 (L190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205898	NM_001005160.3(OR52A5):c.562G>A (p.Val188Met)	OR52A5 (V188M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303053	NM_001005160.3(OR52A5):c.554T>G (p.Met185Arg)	OR52A5 (M185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346047	NM_001005160.3(OR52A5):c.434A>G (p.His145Arg)	OR52A5 (H145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372757	NM_001005160.3(OR52A5):c.370C>T (p.Arg124Cys)	OR52A5 (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205897	NM_001005160.3(OR52A5):c.321C>G (p.His107Gln)	OR52A5 (H107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303054	NM_001005160.3(OR52A5):c.224T>G (p.Leu75Arg)	OR52A5 (L75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205895	NM_001005160.3(OR52A5):c.173A>G (p.His58Arg)	OR52A5 (H58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528922	NM_001005160.3(OR52A5):c.108G>A (p.Met36Ile)	OR52A5 (M36I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357059	NM_001005160.3(OR52A5):c.61G>A (p.Gly21Ser)	OR52A5 (G21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357058	NM_001005160.3(OR52A5):c.53G>T (p.Gly18Val)	OR52A5 (G18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205896	NM_001005160.3(OR52A5):c.23T>C (p.Val8Ala)	OR52A5 (V8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462067	NM_001005160.3(OR52A5):c.14A>G (p.Asn5Ser)	OR52A5 (N5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573338	GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3	HBB, HBE1 +25 more	Copy number gain	See cases	GLikely benign
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 1455047	NC_000011.9:g.(?_5145468)_(5247440_?)del	HBB, OR51V1 +2 more	Deletion	not provided	GPathogenic
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
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 980410	GRCh37/hg19 11p15.4(chr11:4970264-5225635)x1	OR51A2, OR52E2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 815401	GRCh37/hg19 11p15.4(chr11:5132252-5251954)x1	HBB, OR52A1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 815400	GRCh37/hg19 11p15.4(chr11:5112523-5336304)x1	HBD, OR52A1 +7 more	Copy number loss	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
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 443040	GRCh37/hg19 11p15.4(chr11:4642886-5200656)x3	MMP26, OR51A2 +17 more	Copy number gain	See cases	GLikely benign
Select item 442369	GRCh37/hg19 11p15.4(chr11:4634077-5208018)x3	MMP26, OR51A2 +17 more	Copy number gain	See cases	GLikely benign
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
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 226252	GRCh37/hg19 11p15.4(chr11:4371631-5253127)	OR51G2, OR51L1 +28 more	Copy number gain	Abnormal esophagus morphology	GLikely pathogenic

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Items: 51