FCER2[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	LOC130063389, LOC130063390 +75 more	Copy number gain	See cases	GUncertain significance
Select item 729700	NM_001220500.2(FCER2):c.954del (p.Leu319fs)	FCER2 (L318fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2371351	NM_001220500.2(FCER2):c.916C>T (p.Pro306Ser)	FCER2 (P306S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316738	NM_001220500.2(FCER2):c.824G>A (p.Arg275His)	FCER2 (R275H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532312	NM_001220500.2(FCER2):c.812C>A (p.Ala271Asp)	FCER2 (A270D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518102	NM_001220500.2(FCER2):c.800G>C (p.Arg267Pro)	FCER2 (R267P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524275	NM_001220500.2(FCER2):c.788G>A (p.Arg263Gln)	FCER2 (R262Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093925	NM_001220500.2(FCER2):c.736G>T (p.Ala246Ser)	FCER2 (A246S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361041	NM_001220500.2(FCER2):c.656C>T (p.Ser219Phe)	FCER2 (S218F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365835	NM_001220500.2(FCER2):c.616G>A (p.Glu206Lys)	FCER2 (E205K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242007	NM_001220500.2(FCER2):c.586G>A (p.Gly196Arg)	FCER2 (G196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243089	NM_001220500.2(FCER2):c.520T>A (p.Cys174Ser)	FCER2 (C173S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270316	NM_001220500.2(FCER2):c.458A>C (p.Gln153Pro)	FCER2 (Q152P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409891	NM_001220500.2(FCER2):c.424C>T (p.Arg142Trp)	FCER2 (R141W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245957	NM_001220500.2(FCER2):c.343G>A (p.Gly115Arg)	FCER2 (G114R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514848	NM_001220500.2(FCER2):c.305T>C (p.Leu102Ser)	FCER2 (L101S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268240	NM_001220500.2(FCER2):c.262A>G (p.Ile88Val)	FCER2 (I87V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649171	NM_001220500.2(FCER2):c.228T>G (p.Gly76=)	FCER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3093923	NM_001220500.2(FCER2):c.208A>G (p.Asn70Asp)	FCER2 (N70D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237688	NM_001220500.2(FCER2):c.146C>T (p.Thr49Ile)	FCER2 (T48I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211419	NM_001220500.2(FCER2):c.110G>A (p.Gly37Glu)	FCER2 (G37E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093927	NM_001220500.2(FCER2):c.97G>A (p.Ala33Thr)	FCER2 (A33T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271486	NM_001220500.2(FCER2):c.92C>T (p.Thr31Ile)	FCER2 (T30I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093926	NM_001220500.2(FCER2):c.83G>A (p.Gly28Glu)	FCER2 (G27E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203890	NM_001220500.2(FCER2):c.59G>A (p.Arg20His)	FCER2 (R19H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509578	NM_001220500.2(FCER2):c.28G>A (p.Glu10Lys)	FCER2 (E10K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	ARHGEF18, C3 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 831037	NC_000019.9:g.(?_7587617)_(8373194_?)dup	CCL25, MCOLN1 +24 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 393843	GRCh37/hg19 19p13.2(chr19:7747084-7793833)x3	FCER2, TRAPPC5	Copy number gain	See cases	GUncertain significance

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Items: 35