ClinVar for Gene (Select 143502) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303094	NM_001405760.1(OR52I2):c.791A>G (p.Tyr264Cys)	OR52I2 (Y264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303093	NM_001405760.1(OR52I2):c.412A>G (p.Arg138Gly)	OR52I2 (R138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303092	NM_001405760.1(OR52I2):c.622T>G (p.Ser208Ala)	OR52I2 (S208A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205973	NM_001405760.1(OR52I2):c.914G>A (p.Arg305Gln)	OR52I2 (R305Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205972	NM_001405760.1(OR52I2):c.890A>G (p.Tyr297Cys)	OR52I2 (Y297C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205971	NM_001405760.1(OR52I2):c.883A>G (p.Ile295Val)	OR52I2 (I295V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205970	NM_001405760.1(OR52I2):c.656C>G (p.Ala219Gly)	OR52I2 (A219G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205969	NM_001405760.1(OR52I2):c.511C>G (p.Pro171Ala)	OR52I2 (P171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205968	NM_001405760.1(OR52I2):c.502A>G (p.Ser168Gly)	OR52I2 (S168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205967	NM_001405760.1(OR52I2):c.269G>T (p.Cys90Phe)	OR52I2 (C90F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205966	NM_001405760.1(OR52I2):c.154G>A (p.Ala52Thr)	OR52I2 (A52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205965	NM_001405760.1(OR52I2):c.83A>C (p.His28Pro)	OR52I2 (H28P)	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 2641533	NM_001405760.1(OR52I2):c.480A>G (p.Ile160Met)	OR52I2 (I160M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2641532	NM_001405760.1(OR52I2):c.454A>G (p.Ile152Val)	OR52I2 (I152V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2605267	NM_001405760.1(OR52I2):c.176G>A (p.Arg59Gln)	OR52I2 (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521116	NM_001405760.1(OR52I2):c.-19-41C>T	OR52I2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2513829	NM_001405760.1(OR52I2):c.829A>C (p.Thr277Pro)	OR52I2 (T277P)	Single nucleotide variant (missense variant)	not specified	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 2459788	NM_001405760.1(OR52I2):c.443T>G (p.Met148Arg)	OR52I2 (M148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457559	NM_001405760.1(OR52I2):c.625C>T (p.Leu209Phe)	OR52I2 (L209F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390314	NM_001405760.1(OR52I2):c.731C>T (p.Thr244Ile)	OR52I2 (T244I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378156	NM_001405760.1(OR52I2):c.781G>A (p.Ala261Thr)	OR52I2 (A261T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370120	NM_001405760.1(OR52I2):c.347C>T (p.Thr116Met)	OR52I2 (T116M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352684	NM_001405760.1(OR52I2):c.550G>A (p.Glu184Lys)	OR52I2 (E184K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350592	NM_001405760.1(OR52I2):c.205G>A (p.Val69Ile)	OR52I2 (V69I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348297	NM_001405760.1(OR52I2):c.586C>A (p.Pro196Thr)	OR52I2 (P222T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345165	NM_001405760.1(OR52I2):c.473T>C (p.Ile158Thr)	OR52I2 (I158T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2344612	NM_001405760.1(OR52I2):c.476C>T (p.Ala159Val)	OR52I2 (A185V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2344611	NM_001405760.1(OR52I2):c.475G>T (p.Ala159Ser)	OR52I2 (A159S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2344610	NM_001405760.1(OR52I2):c.469A>G (p.Ile157Val)	OR52I2 (I157V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341091	NM_001405760.1(OR52I2):c.757G>A (p.Ala253Thr)	OR52I2 (A253T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336838	NM_001405760.1(OR52I2):c.667A>G (p.Ile223Val)	OR52I2 (I223V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323550	NM_001405760.1(OR52I2):c.418C>T (p.Leu140Phe)	OR52I2 (L166F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282749	NM_001405760.1(OR52I2):c.925T>C (p.Trp309Arg)	OR52I2 (W309R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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	CYP2R1, DBX1 +308 more	Copy number gain	See cases	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 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	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
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	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 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	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 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	ART5, CCDC34 +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	OR51G2, OR51L1 +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	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
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 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic

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Links from Gene

Items: 61