ClinVar for Gene (Select 390058) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302997	NM_001004750.1(OR51B6):c.328T>C (p.Ser110Pro)	OR51B5, OR51B6 (S110P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302996	NM_001004750.1(OR51B6):c.380C>A (p.Pro127His)	OR51B5, OR51B6 (P127H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302995	NM_001004750.1(OR51B6):c.359G>A (p.Cys120Tyr)	OR51B5, OR51B6 (C120Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302994	NM_001004750.1(OR51B6):c.348G>A (p.Met116Ile)	OR51B5, OR51B6 (M116I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205777	NM_001004750.1(OR51B6):c.845C>A (p.Pro282Gln)	OR51B6, OR51B5 (P282Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205776	NM_001004750.1(OR51B6):c.695G>T (p.Arg232Met)	OR51B5, OR51B6 (R232M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205774	NM_001004750.1(OR51B6):c.556G>T (p.Ala186Ser)	OR51B5, OR51B6 (A186S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205773	NM_001004750.1(OR51B6):c.482T>A (p.Leu161Gln)	OR51B5, OR51B6 (L161Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623477	NM_001004750.1(OR51B6):c.167C>T (p.Pro56Leu)	OR51B5, OR51B6 (P56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609938	NM_001004750.1(OR51B6):c.455T>G (p.Leu152Arg)	OR51B5, OR51B6 (L152R)	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 2558465	NM_001004750.1(OR51B6):c.472G>T (p.Val158Phe)	OR51B5, OR51B6 (V158F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519756	NM_001004750.1(OR51B6):c.934G>C (p.Ala312Pro)	OR51B5, OR51B6 (A312P)	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 2486811	NM_001004750.1(OR51B6):c.45C>A (p.Phe15Leu)	OR51B5, OR51B6 (F15L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404548	NM_001004750.1(OR51B6):c.672G>A (p.Met224Ile)	OR51B5, OR51B6 (M224I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403125	NM_001004750.1(OR51B6):c.443C>A (p.Thr148Lys)	OR51B5, OR51B6 (T148K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376222	NM_001004750.1(OR51B6):c.725A>G (p.His242Arg)	OR51B5, OR51B6 (H242R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363886	NM_001004750.1(OR51B6):c.610A>G (p.Met204Val)	OR51B5, OR51B6 (M204V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360485	NM_001004750.1(OR51B6):c.725A>C (p.His242Pro)	OR51B5, OR51B6 (H242P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345291	NM_001004750.1(OR51B6):c.156C>A (p.Asn52Lys)	OR51B5, OR51B6 (N52K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235169	NM_001004750.1(OR51B6):c.229C>T (p.Pro77Ser)	OR51B5, OR51B6 (P77S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226959	NM_001004750.1(OR51B6):c.663G>C (p.Lys221Asn)	OR51B5, OR51B6 (K221N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226351	NM_001004750.1(OR51B6):c.479G>A (p.Arg160His)	OR51B5, OR51B6 (R160H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 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: 43