OR52B4[gene] - ClinVar

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

Search results

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	ANO9, AP2A2 +332 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 153706	GRCh38/hg38 11p15.4(chr11:3685244-4414881)x3	LINC02749, LOC106865369 +45 more	Copy number gain	See cases	GUncertain significance
Select item 152227	GRCh38/hg38 11p15.4(chr11:4304835-4510624)x1	LOC126861116, LOC126861117 +10 more	Copy number loss	See cases	GUncertain significance
Select item 2606956	NM_001005161.3(OR52B4):c.896A>G (p.Lys299Arg)	OR52B4 (K299R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235790	NM_001005161.3(OR52B4):c.892A>C (p.Thr298Pro)	OR52B4 (T298P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531120	NM_001005161.3(OR52B4):c.850C>G (p.Leu284Val)	OR52B4 (L284V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217180	NM_001005161.3(OR52B4):c.803G>A (p.Arg268His)	OR52B4 (R268H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2475413	NM_001005161.3(OR52B4):c.734C>T (p.Ser245Phe)	OR52B4 (S245F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250953	NM_001005161.3(OR52B4):c.716C>G (p.Ala239Gly)	OR52B4 (A239G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247209	NM_001005161.3(OR52B4):c.700G>A (p.Asp234Asn)	OR52B4 (D234N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239189	NM_001005161.3(OR52B4):c.661A>G (p.Met221Val)	OR52B4 (M221V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2232175	NM_001005161.3(OR52B4):c.623C>T (p.Thr208Met)	OR52B4 (T208M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544410	NM_001005161.3(OR52B4):c.604T>A (p.Phe202Ile)	OR52B4 (F202I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250952	NM_001005161.3(OR52B4):c.547C>G (p.His183Asp)	OR52B4 (H183D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520183	NM_001005161.3(OR52B4):c.481A>C (p.Ile161Leu)	OR52B4 (I161L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366130	NM_001005161.3(OR52B4):c.443T>G (p.Val148Gly)	OR52B4 (V148G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602103	NM_001005161.3(OR52B4):c.351G>C (p.Leu117Phe)	OR52B4 (L117F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512047	NM_001005161.3(OR52B4):c.344G>A (p.Gly115Glu)	OR52B4 (G115E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365771	NM_001005161.3(OR52B4):c.277G>A (p.Asp93Asn)	OR52B4 (D93N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282991	NM_001005161.3(OR52B4):c.168C>A (p.Ser56Arg)	OR52B4 (S56R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403276	NM_001005161.3(OR52B4):c.121del (p.Leu41fs)	OR52B4 (L41fs)	Deletion (frameshift variant)	not specified	GBenign
Select item 2483459	NM_001005161.3(OR52B4):c.79A>G (p.Met27Val)	OR52B4 (M27V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412523	NM_001005161.3(OR52B4):c.65T>C (p.Leu22Pro)	OR52B4 (L22P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684634	GRCh37/hg19 11p15.4(chr11:4376571-4623788)x3	C11orf40, OR52B4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1807596	GRCh37/hg19 11p15.4(chr11:4384773-4681230)x3	C11orf40, OR51D1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	ANO9, AP2A2 +137 more	Copy number gain	not provided	Gnot provided
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980414	GRCh37/hg19 11p15.4(chr11:4238630-4460261)x4	TRIM21, OR52B4	Copy number gain	not provided	GUncertain significance
Select item 980412	GRCh37/hg19 11p15.4(chr11:4388904-4639840)x3	C11orf40, OR52B4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +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	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 442143	GRCh37/hg19 11p15.4(chr11:4364896-4926365)x3	C11orf40, OR51D1 +15 more	Copy number gain	See cases	GLikely benign
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441732	GRCh37/hg19 11p15.4(chr11:3629582-4677492)x3	ART1, ART5 +17 more	Copy number gain	See cases	GLikely benign
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 402124	GRCh37/hg19 11p15.4(chr11:4387760-4840438)x3	C11orf40, OR51D1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	ART1, ART5 +132 more	Copy number gain	See cases	GPathogenic
Select item 253777	GRCh37/hg19 11p15.4(chr11:3898872-4853895)x1	C11orf40, OR51D1 +15 more	Copy number loss	See cases	GUncertain significance
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: 52