FFAR4[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 2306784	NM_001195755.2(FFAR4):c.17C>G (p.Ala6Gly)	FFAR4 (A6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610856	NM_001195755.2(FFAR4):c.106C>T (p.Arg36Trp)	FFAR4 (R36W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640700	NM_001195755.2(FFAR4):c.114G>A (p.Val38=)	FFAR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3094572	NM_001195755.2(FFAR4):c.175G>C (p.Val59Leu)	FFAR4 (V59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094574	NM_001195755.2(FFAR4):c.194T>C (p.Val65Ala)	FFAR4 (V65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094575	NM_001195755.2(FFAR4):c.217G>A (p.Ala73Thr)	FFAR4 (A73T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1049069	NM_001195755.2(FFAR4):c.226T>G (p.Cys76Gly)	FFAR4 (C76G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2248811	NM_001195755.2(FFAR4):c.241C>T (p.Leu81Phe)	FFAR4 (L81F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094576	NM_001195755.2(FFAR4):c.277C>T (p.Pro93Ser)	FFAR4 (P93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094577	NM_001195755.2(FFAR4):c.398G>A (p.Ser133Asn)	FFAR4 (S133N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466503	NM_001195755.2(FFAR4):c.434G>A (p.Arg145His)	FFAR4 (R145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266448	NM_001195755.2(FFAR4):c.490G>A (p.Gly164Ser)	FFAR4 (G164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347514	NM_001195755.2(FFAR4):c.598A>T (p.Thr200Ser)	FFAR4 (T200S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326966	NM_001195755.2(FFAR4):c.696+2949C>T	FFAR4 (H236Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543577	NM_001195755.2(FFAR4):c.696+2974T>C	FFAR4 (V244A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590537	NM_001195755.2(FFAR4):c.743C>T (p.Ser248Leu)	FFAR4 (S248L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313304	NM_001195755.2(FFAR4):c.756G>C (p.Gln252His)	FFAR4 (Q252H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30774	NM_001195755.2(FFAR4):c.761G>A (p.Arg254His)	FFAR4 (R270H +1 more)	Single nucleotide variant (missense variant)	Body mass index quantitative trait locus 10	Grisk factor
Select item 708083	NM_001195755.2(FFAR4):c.770A>G (p.Gln257Arg)	FFAR4 (Q273R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3094579	NM_001195755.2(FFAR4):c.782G>A (p.Arg261Gln)	FFAR4 (R277Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537519	NM_001195755.2(FFAR4):c.848C>T (p.Thr283Ile)	FFAR4 (T283I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492845	NM_001195755.2(FFAR4):c.898C>T (p.Pro300Ser)	FFAR4 (P316S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384401	NM_001195755.2(FFAR4):c.943G>A (p.Ala315Thr)	FFAR4 (A331T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773801	NM_001195755.2(FFAR4):c.999T>A (p.Ile333=)	FFAR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 13068	NM_006744.4(RBP4):c.278G>A (p.Gly93Asp)	FFAR4, RBP4 (G93D +1 more)	Single nucleotide variant (missense variant)	Progressive retinal dystrophy due to retinol transport defect	GLikely pathogenic
Select item 13067	NM_006744.4(RBP4):c.176T>A (p.Ile59Asn)	RBP4, FFAR4 (I59N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
Select item 833253	NC_000010.11:g.(?_93161309)_(93797823_?)del	CEP55, FFAR4 +5 more	Deletion	Autosomal dominant epilepsy with auditory features +1 more	GPathogenic
Select item 815370	GRCh37/hg19 10q23.33(chr10:95234481-95431148)x1	CEP55, RBP4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 625558	GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175)	ACSM6, CEP55 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563710	GRCh37/hg19 10q23.33(chr10:95301338-95475336)x1	FFAR4, FRA10AC1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 443180	GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1	BTAF1, CEP55 +20 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 52