ClinVar for Gene (Select 119679) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303097	NM_001001916.2(OR52J3):c.128G>A (p.Gly43Asp)	OR52J3 (G43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303096	NM_001001916.2(OR52J3):c.442A>T (p.Met148Leu)	OR52J3 (M148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303095	NM_001001916.2(OR52J3):c.758A>C (p.Tyr253Ser)	OR52J3 (Y253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205980	NM_001001916.2(OR52J3):c.908G>T (p.Arg303Leu)	OR52J3 (R303L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205978	NM_001001916.2(OR52J3):c.734A>G (p.His245Arg)	OR52J3 (H245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205977	NM_001001916.2(OR52J3):c.734A>C (p.His245Pro)	OR52J3 (H245P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205976	NM_001001916.2(OR52J3):c.685C>T (p.Leu229Phe)	OR52J3 (L229F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205975	NM_001001916.2(OR52J3):c.403G>T (p.Ala135Ser)	OR52J3 (A135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205974	NM_001001916.2(OR52J3):c.337G>A (p.Glu113Lys)	OR52J3 (E113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611957	NM_001001916.2(OR52J3):c.549C>A (p.His183Gln)	OR52J3 (H183Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597705	NM_001001916.2(OR52J3):c.245G>A (p.Arg82His)	OR52J3 (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511748	NM_001001916.2(OR52J3):c.683G>A (p.Arg228His)	OR52J3 (R228H)	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 2493229	NM_001001916.2(OR52J3):c.261C>G (p.Phe87Leu)	OR52J3 (F87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493096	NM_001001916.2(OR52J3):c.511T>C (p.Cys171Arg)	OR52J3 (C171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483895	NM_001001916.2(OR52J3):c.458G>A (p.Arg153His)	OR52J3 (R153H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481046	NM_001001916.2(OR52J3):c.181A>G (p.Met61Val)	OR52J3 (M61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476920	NM_001001916.2(OR52J3):c.758A>G (p.Tyr253Cys)	OR52J3 (Y253C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400042	NM_001001916.2(OR52J3):c.91G>C (p.Gly31Arg)	OR52J3 (G31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397029	NM_001001916.2(OR52J3):c.559G>A (p.Ala187Thr)	OR52J3 (A187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389896	NM_001001916.2(OR52J3):c.880G>A (p.Gly294Arg)	OR52J3 (G294R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375723	NM_001001916.2(OR52J3):c.917A>G (p.Tyr306Cys)	OR52J3 (Y306C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375021	NM_001001916.2(OR52J3):c.812G>C (p.Gly271Ala)	OR52J3 (G271A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370730	NM_001001916.2(OR52J3):c.62G>A (p.Gly21Asp)	OR52J3 (G21D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348269	NM_001001916.2(OR52J3):c.647G>A (p.Gly216Asp)	OR52J3 (G216D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345559	NM_001001916.2(OR52J3):c.403G>A (p.Ala135Thr)	OR52J3 (A135T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342873	NM_001001916.2(OR52J3):c.581T>A (p.Ile194Asn)	OR52J3 (I194N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312505	NM_001001916.2(OR52J3):c.631A>C (p.Asn211His)	OR52J3 (N211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310759	NM_001001916.2(OR52J3):c.152T>C (p.Ile51Thr)	OR52J3 (I51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212254	NM_001001916.2(OR52J3):c.81G>C (p.Met27Ile)	OR52J3 (M27I)	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 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 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 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
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: 52