Related gene-specific medical variations for Gene (Select 2209) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 769529	NM_000566.4(FCGR1A):c.21G>A (p.Leu7=)	H2BC18, FCGR1A	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 734579	NM_000566.4(FCGR1A):c.1072GAA[1] (p.Glu359del)	FCGR1A, H2BC18 (E359del +8 more)	Microsatellite (inframe_indel +2 more)	not provided	GBenign
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 395607	GRCh37/hg19 1q21.2(chr1:149754410-149763756)x1	FCGR1A, H2BC18	Copy number loss	See cases	GBenign
Select item 14826	NM_000566.4(FCGR1A):c.274C>T (p.Arg92Ter)	FCGR1A, H2BC18 (R92* +3 more)	Single nucleotide variant (nonsense +2 more)	IGG receptor I, phagocytic, familial deficiency of	GPathogenic

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Items: 21