FCGR3B[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 57816	GRCh38/hg38 1q23.3(chr1:161513195-161671153)x3	FCGR2A, FCGR2B +13 more	Copy number gain	See cases	GUncertain significance
Select item 150542	GRCh38/hg38 1q23.3(chr1:161589951-161649210)x3	FCGR2B, FCGR2C +4 more	Copy number gain	See cases	GLikely benign
Select item 149428	GRCh38/hg38 1q23.3(chr1:161589951-161680659)x1	FCGR2B, FCGR2C +4 more	Copy number loss	See cases	GLikely benign
Select item 147039	GRCh38/hg38 1q23.3(chr1:161589976-161649084)x3	FCGR2B, FCGR2C +4 more	Copy number gain	See cases	GBenign
Select item 3094079	NM_001244753.2(FCGR3B):c.680T>A (p.Phe227Tyr)	FCGR3B (F124Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601510	NM_001244753.2(FCGR3B):c.649C>G (p.Leu217Val)	FCGR3B (L114V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281791	NM_001244753.2(FCGR3B):c.583G>A (p.Ala195Thr)	FCGR3B (A194T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260093	NM_001244753.2(FCGR3B):c.576A>C (p.Gln192His)	FCGR3B (Q191H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250532	NM_001244753.2(FCGR3B):c.526G>T (p.Val176Phe)	FCGR3B (V159F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2331969	NM_001244753.2(FCGR3B):c.502G>A (p.Gly168Ser)	FCGR3B (G168S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094078	NM_001244753.2(FCGR3B):c.484G>A (p.Ala162Thr)	FCGR3B (A145T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094077	NM_001244753.2(FCGR3B):c.472C>T (p.His158Tyr)	FCGR3B (H157Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2348670	NM_001244753.2(FCGR3B):c.412A>G (p.Lys138Glu)	FCGR3B (K137E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558946	NM_001244753.2(FCGR3B):c.410A>C (p.His137Pro)	FCGR3B (H137P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278339	NM_001244753.2(FCGR3B):c.368C>T (p.Pro123Leu)	FCGR3B (P106L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 402858	NM_001244753.2(FCGR3B):c.316A>G (p.Ile106Val)	FCGR3B (I106V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 242687	NM_000570.4(FCGR3B):c.316A= (p.Ile106=)	FCGR3B	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2639515	NM_001244753.2(FCGR3B):c.312C>A (p.Val104=)	FCGR3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2235672	NM_001244753.2(FCGR3B):c.296C>T (p.Pro99Leu)	FCGR3B (P99L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507872	NM_001244753.2(FCGR3B):c.290G>A (p.Ser97Asn)	FCGR3B (S80N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094076	NM_001244753.2(FCGR3B):c.249C>G (p.Asp83Glu)	FCGR3B (D66E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242684	NM_001244753.2(FCGR3B):c.244= (p.Asn82=)	FCGR3B	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 36924	NM_000570.4(FCGR3B):c.[108C=;194A>G;244A=;316A=]	FCGR3B (N65S +2 more)	Single nucleotide variant (no sequence alteration +1 more)	Neutrophil-specific antigens NA1/NA2	GPathogenic
Select item 2543493	NM_001244753.2(FCGR3B):c.235G>A (p.Ala79Thr)	FCGR3B (A79T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278340	NM_001244753.2(FCGR3B):c.206G>A (p.Ser69Asn)	FCGR3B (S69N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3278338	NM_001244753.2(FCGR3B):c.196C>T (p.Leu66Phe)	FCGR3B (L49F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242685	NM_000570.4(FCGR3B):c.194A>G (p.Asn65Ser)	FCGR3B (N65S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3094075	NM_001244753.2(FCGR3B):c.170C>T (p.Ser57Phe)	FCGR3B (S40F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287278	NM_001244753.2(FCGR3B):c.167A>G (p.Asn56Ser)	FCGR3B (N55S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242686	NM_001244753.2(FCGR3B):c.108= (p.Ser36=)	FCGR3B	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2347687	NM_001244753.2(FCGR3B):c.79G>C (p.Val27Leu)	FCGR3B (V10L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206338	NM_001244753.2(FCGR3B):c.62-6C>A	FCGR3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2354537	NM_001244753.2(FCGR3B):c.53T>C (p.Met18Thr)	FCGR3B (M18T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 2423233	NC_000001.10:g.(?_161279609)_(161751809_?)dup	ATF6, CFAP126 +11 more	Duplication	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814134	GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3	ADAMTS4, APOA2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 565192	GRCh37/hg19 1q23.3(chr1:161469309-162517412)x3	FCGR2B, C1orf226 +14 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 48