H2BC18[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236400	NC_000001.11:g.145516559_149951620del	ACP6, ANKRD34A +174 more	Deletion	Cataract 46 juvenile-onset	GUncertain significance
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)	FCGR1A, H2BC18 (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 +2 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)	H2BC18, FCGR1A (E346Q +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3235315	NM_001024599.5(H2BC18):c.338C>A (p.Ser113Tyr)	H2BC18 (S113Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235314	NM_001024599.5(H2BC18):c.145G>A (p.Val49Ile)	H2BC18 (V49I)	Single nucleotide variant (missense variant)	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 221417	GRCh37/hg19 1q21.2(chr1:149783688-150049029)x3	H2AC19, H2AC20 +15 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
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

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Items: 43