FCGR1A[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 769529	NM_000566.4(FCGR1A):c.21G>A (p.Leu7=)	FCGR1A, H2BC18	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 790487	NM_000566.4(FCGR1A):c.114C>T (p.Thr38=)	FCGR1A, H2BC18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2493732	NM_000566.4(FCGR1A):c.190C>G (p.Gln64Glu)	FCGR1A, H2BC18 (Q41E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 14826	NM_000566.4(FCGR1A):c.274C>T (p.Arg92Ter)	H2BC18, FCGR1A (R92* +3 more)	Single nucleotide variant (nonsense +2 more)	IGG receptor I, phagocytic, familial deficiency of	GPathogenic
Select item 3094054	NM_000566.4(FCGR1A):c.523C>T (p.Arg175Cys)	FCGR1A, H2BC18 (R176C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2402945	NM_000566.4(FCGR1A):c.670C>A (p.Gln224Lys)	FCGR1A, H2BC18 (Q139K +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 691503	NM_000566.4(FCGR1A):c.736C>T (p.Gln246Ter)	FCGR1A, H2BC18 (Q246* +6 more)	Single nucleotide variant (nonsense +2 more)	Peritoneal Gliomatosis	GUncertain significance
Select item 3094055	NM_000566.4(FCGR1A):c.814C>T (p.Arg272Cys)	FCGR1A, H2BC18 (R188C +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2520263	NM_000566.4(FCGR1A):c.829G>C (p.Glu277Gln)	FCGR1A, H2BC18 (E193Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3094056	NM_000566.4(FCGR1A):c.831G>C (p.Glu277Asp)	FCGR1A, H2BC18 (E192D +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361340	NM_000566.4(FCGR1A):c.905T>C (p.Met302Thr)	FCGR1A, H2BC18 (M193T +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2279690	NM_000566.4(FCGR1A):c.906G>A (p.Met302Ile)	FCGR1A, H2BC18 (M218I +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2511294	NM_000566.4(FCGR1A):c.935C>A (p.Thr312Lys)	FCGR1A, H2BC18 (T203K +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222157	NM_000566.4(FCGR1A):c.940C>T (p.Arg314Cys)	FCGR1A, H2BC18 (R205C +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1285171	NM_000566.4(FCGR1A):c.1013T>C (p.Ile338Thr)	FCGR1A, H2BC18 (I229T +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2318316	NM_000566.4(FCGR1A):c.1021C>T (p.Leu341Phe)	FCGR1A, H2BC18 (L318F +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 734579	NM_000566.4(FCGR1A):c.1072GAA[1] (p.Glu359del)	FCGR1A, H2BC18 (E359del +8 more)	Microsatellite (inframe_indel +3 more)	not provided	GBenign
Select item 2537094	NM_000566.4(FCGR1A):c.1091G>T (p.Gly364Val)	FCGR1A, H2BC18 (G272V +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531971	NM_000566.4(FCGR1A):c.1093G>T (p.Val365Leu)	FCGR1A, H2BC18 (V273L +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306575	NM_000566.4(FCGR1A):c.1105G>C (p.Glu369Gln)	FCGR1A, H2BC18 (E346Q +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062368	GRCh37/hg19 1q21.2-21.3(chr1:149713775-150385573)x1	ANP32E, APH1A +25 more	Copy number loss	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1706516	GRCh37/hg19 1q21.2(chr1:148514178-149758028)x3	FCGR1A, H2BC18 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1340939	GRCh37/hg19 1q21.2(chr1:149698553-149758029)x1	FCGR1A, H2BC18	Copy number loss	not provided	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 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
Select item 442015	GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3	ACP6, ANKRD34A +42 more	Copy number gain	See cases	GLikely pathogenic
Select item 395607	GRCh37/hg19 1q21.2(chr1:149754410-149763756)x1	FCGR1A, H2BC18	Copy number loss	See cases	GBenign
Select item 395291	GRCh37/hg19 1q21.2(chr1:148940709-149763756)x1	FAM72C, PPIAL4C +3 more	Copy number loss	See cases	GBenign
Select item 395233	GRCh37/hg19 1q21.2(chr1:149223984-149763756)x3	FAM72C, FCGR1A +2 more	Copy number gain	See cases	GLikely benign
Select item 395033	GRCh37/hg19 1q21.2(chr1:148004766-149754410)x3	FAM72C, FCGR1A +8 more	Copy number gain	See cases	GBenign
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 253484	GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3	ACP6, ANKRD34A +43 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 149983	GRCh37/hg19 1q21.2(chr1:149041023-149768869)x1	FAM72C, FCGR1A +3 more	Copy number loss	See cases	GBenign
Select item 144372	GRCh37/hg19 1q21.2(chr1:149041013-149768855)x1	FAM72C, FCGR1A +3 more	Copy number loss	See cases	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39