ClinVar for Gene (Select 143496) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3205916	NM_001005161.3(OR52B4):c.847A>G (p.Ile283Val)	OR52B4 (I283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205915	NM_001005161.3(OR52B4):c.779C>G (p.Thr260Arg)	OR52B4 (T260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205914	NM_001005161.3(OR52B4):c.529C>G (p.Pro177Ala)	OR52B4 (P177A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205913	NM_001005161.3(OR52B4):c.289G>T (p.Asp97Tyr)	OR52B4 (D97Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205912	NM_001005161.3(OR52B4):c.268C>T (p.Arg90Cys)	OR52B4 (R90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205911	NM_001005161.3(OR52B4):c.263G>T (p.Trp88Leu)	OR52B4 (W88L)	Single nucleotide variant (missense variant)	not specified	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 2606956	NM_001005161.3(OR52B4):c.896A>G (p.Lys299Arg)	OR52B4 (K299R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602103	NM_001005161.3(OR52B4):c.351G>C (p.Leu117Phe)	OR52B4 (L117F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544410	NM_001005161.3(OR52B4):c.604T>A (p.Phe202Ile)	OR52B4 (F202I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531120	NM_001005161.3(OR52B4):c.850C>G (p.Leu284Val)	OR52B4 (L284V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520183	NM_001005161.3(OR52B4):c.481A>C (p.Ile161Leu)	OR52B4 (I161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512047	NM_001005161.3(OR52B4):c.344G>A (p.Gly115Glu)	OR52B4 (G115E)	Single nucleotide variant (missense variant)	not specified	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 2483459	NM_001005161.3(OR52B4):c.79A>G (p.Met27Val)	OR52B4 (M27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475413	NM_001005161.3(OR52B4):c.734C>T (p.Ser245Phe)	OR52B4 (S245F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412523	NM_001005161.3(OR52B4):c.65T>C (p.Leu22Pro)	OR52B4 (L22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366130	NM_001005161.3(OR52B4):c.443T>G (p.Val148Gly)	OR52B4 (V148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365771	NM_001005161.3(OR52B4):c.277G>A (p.Asp93Asn)	OR52B4 (D93N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282991	NM_001005161.3(OR52B4):c.168C>A (p.Ser56Arg)	OR52B4 (S56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250953	NM_001005161.3(OR52B4):c.716C>G (p.Ala239Gly)	OR52B4 (A239G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250952	NM_001005161.3(OR52B4):c.547C>G (p.His183Asp)	OR52B4 (H183D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247209	NM_001005161.3(OR52B4):c.700G>A (p.Asp234Asn)	OR52B4 (D234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239189	NM_001005161.3(OR52B4):c.661A>G (p.Met221Val)	OR52B4 (M221V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2235790	NM_001005161.3(OR52B4):c.892A>C (p.Thr298Pro)	OR52B4 (T298P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232175	NM_001005161.3(OR52B4):c.623C>T (p.Thr208Met)	OR52B4 (T208M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217180	NM_001005161.3(OR52B4):c.803G>A (p.Arg268His)	OR52B4 (R268H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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	ART1, CD81 +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	CCKBR, OR56A4 +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	RASSF10, RASSF7 +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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +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	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 403276	NM_001005161.3(OR52B4):c.121del (p.Leu41fs)	OR52B4 (L41fs)	Deletion (frameshift variant)	not specified	GBenign
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	B4GALNT4, BET1L +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
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 more	Copy number gain	See cases	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 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	STIM1-AS1, SYT8 +332 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

ClinVar

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Links from Gene

Items: 58