ClinVar for Gene (Select 120066) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303253	NM_153445.2(OR5P3):c.292G>T (p.Val98Leu)	OR5P3 (V98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303252	NM_153445.2(OR5P3):c.569C>T (p.Ser190Phe)	OR5P3 (S190F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206388	NM_153445.2(OR5P3):c.850A>T (p.Met284Leu)	OR5P3 (M284L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206387	NM_153445.2(OR5P3):c.740C>T (p.Ala247Val)	OR5P3 (A247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206386	NM_153445.2(OR5P3):c.709G>T (p.Ala237Ser)	OR5P3 (A237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206385	NM_153445.2(OR5P3):c.412C>A (p.Pro138Thr)	OR5P3 (P138T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206384	NM_153445.2(OR5P3):c.392T>A (p.Leu131His)	OR5P3 (L131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206383	NM_153445.2(OR5P3):c.106G>A (p.Val36Ile)	OR5P3 (V36I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550893	NM_153445.2(OR5P3):c.167A>C (p.His56Pro)	OR5P3 (H56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533822	NM_153445.2(OR5P3):c.674T>C (p.Ile225Thr)	OR5P3 (I225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530123	NM_153445.2(OR5P3):c.667A>T (p.Ile223Phe)	OR5P3 (I223F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514740	NM_153445.2(OR5P3):c.919A>G (p.Ile307Val)	OR5P3 (I307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513689	NM_153445.2(OR5P3):c.701G>T (p.Arg234Leu)	OR5P3 (R234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509704	NM_153445.2(OR5P3):c.59A>G (p.Asp20Gly)	OR5P3 (D20G)	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 2490800	NM_153445.2(OR5P3):c.794G>C (p.Ser265Thr)	OR5P3 (S265T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409431	NM_153445.2(OR5P3):c.800C>T (p.Ser267Leu)	OR5P3 (S267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407900	NM_153445.2(OR5P3):c.380G>C (p.Cys127Ser)	OR5P3 (C127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333486	NM_153445.2(OR5P3):c.619A>G (p.Ile207Val)	OR5P3 (I207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329026	NM_153445.2(OR5P3):c.902T>C (p.Leu301Pro)	OR5P3 (L301P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310988	NM_153445.2(OR5P3):c.331G>A (p.Glu111Lys)	OR5P3 (E111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288328	NM_153445.2(OR5P3):c.243G>C (p.Met81Ile)	OR5P3 (M81I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246389	NM_153445.2(OR5P3):c.707A>G (p.Lys236Arg)	OR5P3 (K236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227270	NM_153445.2(OR5P3):c.149G>C (p.Arg50Thr)	OR5P3 (R50T)	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 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 563871	GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3	ZNF214, NLRP10 +28 more	Copy number gain	not provided	GPathogenic
Select item 563868	GRCh37/hg19 11p15.4(chr11:7837338-9295428)x3	TRIM66, STK33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 563863	GRCh37/hg19 11p15.4(chr11:7418934-8308834)x3	OR10A6, OR5P2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 563825	GRCh37/hg19 11p15.4(chr11:7797256-7982842)x1	OR10A6, OR5P2 +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 154636	GRCh38/hg38 11p15.4(chr11:7795944-7825502)x1	OR5P2, OR5P3	Copy number loss	See cases	GBenign
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 147599	GRCh38/hg38 11p15.4(chr11:7795944-7872826)x1	LOC283299, OR5P2 +1 more	Copy number loss	See cases	GBenign
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