ClinVar for Gene (Select 120776) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302678	NM_003700.1(OR2D2):c.667G>A (p.Val223Ile)	OR2D2 (V223I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302677	NM_003700.1(OR2D2):c.647T>C (p.Val216Ala)	OR2D2 (V216A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205100	NM_003700.1(OR2D2):c.910A>G (p.Thr304Ala)	OR2D2 (T304A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205099	NM_003700.1(OR2D2):c.889G>T (p.Ala297Ser)	OR2D2 (A297S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205098	NM_003700.1(OR2D2):c.610G>A (p.Val204Ile)	OR2D2 (V204I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205097	NM_003700.1(OR2D2):c.592G>A (p.Ala198Thr)	OR2D2 (A198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205096	NM_003700.1(OR2D2):c.386C>T (p.Pro129Leu)	OR2D2 (P129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205095	NM_003700.1(OR2D2):c.240G>T (p.Gln80His)	OR2D2 (Q80H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205094	NM_003700.1(OR2D2):c.134T>C (p.Leu45Pro)	OR2D2 (L45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684635	GRCh37/hg19 11p15.4(chr11:6801941-7136661)x3	NLRP14, OR10A2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2531117	NM_003700.1(OR2D2):c.158C>T (p.Ser53Phe)	OR2D2 (S53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524089	NM_003700.1(OR2D2):c.173C>G (p.Pro58Arg)	OR2D2 (P58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514244	NM_003700.1(OR2D2):c.172C>T (p.Pro58Ser)	OR2D2 (P58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513408	NM_003700.1(OR2D2):c.652T>C (p.Tyr218His)	OR2D2 (Y218H)	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 2459614	NM_003700.1(OR2D2):c.520A>C (p.Ile174Leu)	OR2D2 (I174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391816	NM_003700.1(OR2D2):c.839C>G (p.Thr280Ser)	OR2D2 (T280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387216	NM_003700.1(OR2D2):c.447G>T (p.Trp149Cys)	OR2D2 (W149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384502	NM_003700.1(OR2D2):c.589A>C (p.Met197Leu)	OR2D2 (M197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381943	NM_003700.1(OR2D2):c.200C>A (p.Ser67Tyr)	OR2D2 (S67Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355781	NM_003700.1(OR2D2):c.316A>C (p.Ile106Leu)	OR2D2 (I106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349194	NM_003700.1(OR2D2):c.179A>G (p.Tyr60Cys)	OR2D2 (Y60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330354	NM_003700.1(OR2D2):c.41T>C (p.Leu14Pro)	OR2D2 (L14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275139	NM_003700.1(OR2D2):c.223A>G (p.Thr75Ala)	OR2D2 (T75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243740	NM_003700.1(OR2D2):c.175A>T (p.Met59Leu)	OR2D2 (M59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226843	NM_003700.1(OR2D2):c.429G>C (p.Gln143His)	OR2D2 (Q143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215796	NM_003700.1(OR2D2):c.905T>C (p.Val302Ala)	OR2D2 (V302A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213426	NM_003700.1(OR2D2):c.170C>T (p.Thr57Ile)	OR2D2 (T57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211731	NM_003700.1(OR2D2):c.364C>G (p.Arg122Gly)	OR2D2 (R122G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210307	NM_003700.1(OR2D2):c.28A>G (p.Thr10Ala)	OR2D2 (T10A)	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 1340891	GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3	ARFIP2, DCHS1 +19 more	Copy number gain	not provided	GUncertain significance
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 815405	GRCh37/hg19 11p15.4(chr11:6890900-6969676)x1	ZNF215, OR10A2 +3 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 686332	GRCh37/hg19 11p15.4(chr11:6908898-7058885)x1	NLRP14, OR2D2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 685522	GRCh37/hg19 11p15.4(chr11:6754444-6982365)x1	OR10A2, OR10A4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 666458	GRCh37/hg19 11p15.4(chr11:6851550-6984119)x1	OR10A2, OR10A4 +4 more	Copy number loss	not provided	GUncertain significance
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 563821	GRCh37/hg19 11p15.4(chr11:6905914-7062692)x1	ZNF215, OR2D3 +3 more	Copy number loss	not provided	GUncertain significance
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 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: 50