ClinVar for Gene (Select 2850) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282366	NM_018971.3(GPR27):c.20C>T (p.Pro7Leu)	EIF4E3, GPR27 (P7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282365	NM_018971.3(GPR27):c.997A>C (p.Ile333Leu)	GPR27 (I333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282364	NM_018971.3(GPR27):c.232G>A (p.Ala78Thr)	EIF4E3, GPR27 (A78T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3101699	NM_018971.3(GPR27):c.874C>G (p.Leu292Val)	GPR27 (L292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101697	NM_018971.3(GPR27):c.250G>T (p.Ala84Ser)	EIF4E3, GPR27 (A84S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3101696	NM_018971.3(GPR27):c.1091C>T (p.Ala364Val)	GPR27 (A364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062672	GRCh37/hg19 3p13(chr3:70583776-72793789)x1	EIF4E3, FOXP1 +4 more	Copy number loss	not specified	GPathogenic
Select item 2685085	GRCh37/hg19 3p13(chr3:71707206-72157556)x1	EIF4E3, GPR27 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2619983	NM_018971.3(GPR27):c.202G>A (p.Ala68Thr)	EIF4E3, GPR27 (A68T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2614316	NM_018971.3(GPR27):c.268C>G (p.Pro90Ala)	EIF4E3, GPR27 (P90A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606421	NM_018971.3(GPR27):c.718G>A (p.Ala240Thr)	EIF4E3, GPR27 (A240T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604664	NM_018971.3(GPR27):c.1068C>G (p.Cys356Trp)	GPR27 (C356W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555393	NM_018971.3(GPR27):c.495C>G (p.Asp165Glu)	EIF4E3, GPR27 (D165E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525630	NM_018971.3(GPR27):c.764T>G (p.Leu255Arg)	GPR27 (L255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517350	NM_018971.3(GPR27):c.530C>A (p.Pro177His)	EIF4E3, GPR27 (P177H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473302	NM_018971.3(GPR27):c.1001A>C (p.Asn334Thr)	GPR27 (N334T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471634	NM_018971.3(GPR27):c.691G>A (p.Gly231Ser)	EIF4E3, GPR27 (G231S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383384	NM_018971.3(GPR27):c.136G>A (p.Glu46Lys)	EIF4E3, GPR27 (E46K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369589	NM_018971.3(GPR27):c.1096C>T (p.His366Tyr)	GPR27 (H366Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335925	NM_018971.3(GPR27):c.775C>G (p.Arg259Gly)	GPR27 (R259G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260301	NM_018971.3(GPR27):c.656T>C (p.Leu219Pro)	EIF4E3, GPR27 (L219P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256829	NM_018971.3(GPR27):c.742C>G (p.Arg248Gly)	GPR27 (R248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248818	NM_018971.3(GPR27):c.18G>T (p.Glu6Asp)	EIF4E3, GPR27 (E6D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224362	NM_018971.3(GPR27):c.901G>A (p.Val301Ile)	GPR27 (V301I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213503	NM_018971.3(GPR27):c.904G>C (p.Val302Leu)	GPR27 (V302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1064533	Single allele	EIF4E3, EOGT +12 more	Deletion	See cases	GPathogenic
Select item 980499	GRCh37/hg19 3p13-12.3(chr3:70938608-74660846)x3	CNTN3, EBLN2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 814454	GRCh37/hg19 3p13(chr3:71665558-72020026)x3	EIF4E3, PROK2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562782	GRCh37/hg19 3p13(chr3:70618611-72399570)x1	PROK2, GPR27 +3 more	Copy number loss	not provided	GPathogenic
Select item 562781	GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1	ARL6IP5, CNTN3 +22 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441945	GRCh37/hg19 3p13-12.3(chr3:70433832-77012164)x1	RYBP, SHQ1 +13 more	Copy number loss	See cases	GPathogenic
Select item 394175	GRCh37/hg19 3p13-12.3(chr3:70127345-74508912)x3	CNTN3, EBLN2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 394130	GRCh37/hg19 3p13(chr3:71802608-71804290)x3	EIF4E3, GPR27	Copy number gain	See cases	GUncertain significance
Select item 154582	GRCh38/hg38 3p13-12.3(chr3:71317346-74324671)x1	LOC115995512, LOC121009679 +94 more	Copy number loss	See cases	GPathogenic
Select item 154117	GRCh38/hg38 3p13(chr3:71124507-71892267)x3	EIF4E3, FOXP1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 148629	GRCh38/hg38 3p13(chr3:70943620-71861889)x1	EIF4E3, FOXP1 +29 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 57773	GRCh38/hg38 3p13-12.3(chr3:70296167-74865078)x1	LOC129937044, LOC129937045 +110 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 43