OR52A1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 54

	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 3205894	NM_012375.3(OR52A1):c.907C>T (p.Arg303Cys)	LOC110011217, OR52A1 (R303C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205893	NM_012375.3(OR52A1):c.862C>T (p.Pro288Ser)	LOC110011217, OR52A1 (P288S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204706	NM_012375.3(OR52A1):c.859C>G (p.Pro287Ala)	LOC110011217, OR52A1 (P287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205892	NM_012375.3(OR52A1):c.832C>G (p.Leu278Val)	LOC110011217, OR52A1 (L278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205891	NM_012375.3(OR52A1):c.821A>G (p.Tyr274Cys)	LOC110011217, OR52A1 (Y274C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303047	NM_012375.3(OR52A1):c.820T>C (p.Tyr274His)	LOC110011217, OR52A1 (Y274H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271594	NM_012375.3(OR52A1):c.772G>A (p.Ala258Thr)	LOC110011217, OR52A1 (A258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282747	NM_012375.3(OR52A1):c.746G>A (p.Cys249Tyr)	LOC110011217, OR52A1 (C249Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221442	NM_012375.3(OR52A1):c.736G>T (p.Ala246Ser)	LOC110011217, OR52A1 (A246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205890	NM_012375.3(OR52A1):c.734T>C (p.Ile245Thr)	LOC110011217, OR52A1 (I245T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205889	NM_012375.3(OR52A1):c.725A>G (p.Asn242Ser)	LOC110011217, OR52A1 (N242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303051	NM_012375.3(OR52A1):c.692T>C (p.Leu231Ser)	LOC110011217, OR52A1 (L231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462556	NM_012375.3(OR52A1):c.607T>A (p.Leu203Met)	LOC110011217, OR52A1 (L203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555748	NM_012375.3(OR52A1):c.568C>G (p.Leu190Val)	LOC110011217, OR52A1 (L190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303048	NM_012375.3(OR52A1):c.554T>C (p.Met185Thr)	LOC110011217, OR52A1 (M185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283779	NM_012375.3(OR52A1):c.521C>A (p.Thr174Lys)	LOC110011217, OR52A1 (T174K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212124	NM_012375.3(OR52A1):c.502C>T (p.Arg168Trp)	LOC110011217, OR52A1 (R168W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303049	NM_012375.3(OR52A1):c.275C>T (p.Pro92Leu)	LOC110011217, OR52A1 (P92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205887	NM_012375.3(OR52A1):c.266T>G (p.Phe89Cys)	LOC110011217, OR52A1 (F89C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394897	NM_012375.3(OR52A1):c.256A>G (p.Ile86Val)	LOC110011217, OR52A1 (I86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205886	NM_012375.3(OR52A1):c.221C>T (p.Ala74Val)	LOC110011217, OR52A1 (A74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612348	NM_012375.3(OR52A1):c.203T>C (p.Leu68Pro)	LOC110011217, OR52A1 (L68P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205885	NM_012375.3(OR52A1):c.202C>G (p.Leu68Val)	LOC110011217, OR52A1 (L68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464479	NM_012375.3(OR52A1):c.175G>A (p.Glu59Lys)	LOC110011217, OR52A1 (E59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303050	NM_012375.3(OR52A1):c.133T>G (p.Ser45Ala)	LOC110011217, OR52A1 (S45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205884	NM_012375.3(OR52A1):c.110A>T (p.Tyr37Phe)	LOC110011217, OR52A1 (Y37F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528495	NM_012375.3(OR52A1):c.71C>T (p.Ser24Phe)	LOC110011217, OR52A1 (S24F)	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54