ClinVar for Gene (Select 390066) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3205927	NM_001005163.2(OR52D1):c.812A>C (p.Glu271Ala)	OR51B5, OR52D1 (E271A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205926	NM_001005163.2(OR52D1):c.762C>G (p.Phe254Leu)	OR51B5, OR52D1 (F254L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205924	NM_001005163.2(OR52D1):c.689A>G (p.His230Arg)	OR51B5, OR52D1 (H230R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205923	NM_001005163.2(OR52D1):c.547G>A (p.Glu183Lys)	OR51B5, OR52D1 (E183K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205922	NM_001005163.2(OR52D1):c.503G>A (p.Arg168Gln)	OR51B5, OR52D1 (R168Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205921	NM_001005163.2(OR52D1):c.302T>C (p.Leu101Pro)	OR51B5, OR52D1 (L101P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641540	NM_001005163.2(OR52D1):c.776TCT[1] (p.Phe260del)	OR51B5, OR52D1 (F260del)	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2623612	NM_001005163.2(OR52D1):c.221T>C (p.Leu74Pro)	OR51B5, OR52D1 (L74P)	Single nucleotide variant (missense variant +1 more)	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 2519523	NM_001005163.2(OR52D1):c.482C>T (p.Pro161Leu)	OR51B5, OR52D1 (P161L)	Single nucleotide variant (missense variant +1 more)	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 2462280	NM_001005163.2(OR52D1):c.282G>T (p.Glu94Asp)	OR51B5, OR52D1 (E94D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403721	NM_001005163.2(OR52D1):c.317G>A (p.Cys106Tyr)	OR51B5, OR52D1 (C106Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397169	NM_001005163.2(OR52D1):c.541T>A (p.Tyr181Asn)	OR52D1, OR51B5 (Y181N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359973	NM_001005163.2(OR52D1):c.625G>T (p.Ala209Ser)	OR51B5, OR52D1 (A209S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348191	NM_001005163.2(OR52D1):c.811G>A (p.Glu271Lys)	OR51B5, OR52D1 (E271K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340590	NM_001005163.2(OR52D1):c.584T>G (p.Ile195Ser)	OR51B5, OR52D1 (I195S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333810	NM_001005163.2(OR52D1):c.421C>T (p.His141Tyr)	OR51B5, OR52D1 (H141Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284789	NM_001005163.2(OR52D1):c.539C>A (p.Thr180Lys)	OR51B5, OR52D1 (T180K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241114	NM_001005163.2(OR52D1):c.523C>T (p.Arg175Cys)	OR51B5, OR52D1 (R175C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809171	GRCh37/hg19 11p15.4(chr11:5439244-5570043)x1	OR51I1, OR51I2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1809092	GRCh37/hg19 11p15.4(chr11:5361272-5660023)x1	OR51B5, OR51B6 +11 more	Copy number loss	not provided	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 1807597	GRCh37/hg19 11p15.4(chr11:5279153-5619949)x3	HBE1, OR51B2 +13 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 1341222	GRCh37/hg19 11p15.4(chr11:5488908-5701819)x1	OR52B6, OR52D1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1340453	GRCh37/hg19 11p15.4(chr11:5373646-5519671)x1	OR51B6, OR51I1 +4 more	Copy number loss	not provided	GLikely benign
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 980408	GRCh37/hg19 11p15.4(chr11:5485211-5693876)x1	OR52B6, TRIM6 +6 more	Copy number loss	not provided	GUncertain significance
Select item 815404	GRCh37/hg19 11p15.4(chr11:5505304-6199376)x3	TRIM5, OR56B4 +22 more	Copy number gain	not provided	GLikely benign
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 442099	GRCh37/hg19 11p15.4(chr11:5485210-5719251)x1	OR52B6, OR52D1 +7 more	Copy number loss	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 441831	GRCh37/hg19 11p15.4(chr11:5361271-5616544)x1	OR51B5, OR51B6 +9 more	Copy number loss	See cases	GUncertain significance
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 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

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Links from Gene

Items: 44