FCAR[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147949	GRCh37/hg19 19q13.42(chr19:55028722-55683018)x3	FCAR, KIR2DL1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 3278263	NM_002000.4(FCAR):c.10A>G (p.Lys4Glu)	FCAR (K4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510793	NM_002000.4(FCAR):c.44T>C (p.Leu15Pro)	FCAR (L15P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278260	NM_002000.4(FCAR):c.54G>C (p.Arg18Ser)	FCAR (R18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614207	NM_002000.4(FCAR):c.75C>A (p.Asp25Glu)	FCAR (D25E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314145	NM_002000.4(FCAR):c.133G>C (p.Val45Leu)	FCAR (V33L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093912	NM_002000.4(FCAR):c.250G>C (p.Glu84Gln)	FCAR (E84Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342063	NM_002000.4(FCAR):c.259A>G (p.Ile87Val)	FCAR (I75V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348344	NM_002000.4(FCAR):c.262G>A (p.Asp88Asn)	FCAR (D76N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266794	NM_002000.4(FCAR):c.275C>T (p.Ala92Val)	FCAR (A80V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093913	NM_002000.4(FCAR):c.290G>A (p.Arg97His)	FCAR (R85H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093914	NM_002000.4(FCAR):c.310A>G (p.Ile104Val)	FCAR (I104V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461252	NM_002000.4(FCAR):c.325T>A (p.Phe109Ile)	FCAR (F109I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295115	NM_002000.4(FCAR):c.350T>A (p.Leu117Gln)	FCAR (L117Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238436	NM_002000.4(FCAR):c.371G>T (p.Gly124Val)	FCAR (G124V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555488	NM_002000.4(FCAR):c.394C>T (p.Arg132Trp)	FCAR (R120W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278264	NM_002000.4(FCAR):c.410T>C (p.Met137Thr)	FCAR (M28T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093915	NM_002000.4(FCAR):c.494C>T (p.Ser165Phe)	FCAR (S56F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300667	NM_002000.4(FCAR):c.563C>T (p.Ser188Leu)	FCAR (S176L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278262	NM_002000.4(FCAR):c.637C>T (p.Leu213Phe)	FCAR (L201F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588628	NM_002000.4(FCAR):c.671C>T (p.Thr224Met)	FCAR (T190M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461124	NM_002000.4(FCAR):c.688C>T (p.Arg230Cys)	FCAR (R134C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223932	NM_002000.4(FCAR):c.689G>T (p.Arg230Leu)	FCAR (R134L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093916	NM_002000.4(FCAR):c.715G>A (p.Val239Met)	FCAR (V131M +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350192	NM_002000.4(FCAR):c.733C>G (p.Leu245Val)	FCAR (L136V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261393	NM_002000.4(FCAR):c.767A>G (p.Asn256Ser)	FCAR (N160S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093917	NM_002000.4(FCAR):c.804G>T (p.Trp268Cys)	FCAR (W159C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278261	NM_002000.4(FCAR):c.815T>C (p.Met272Thr)	FCAR (M238T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350457	NM_002000.4(FCAR):c.842G>A (p.Arg281Gln)	FCAR (R172Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	CACNG6, CACNG7 +51 more	Duplication	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 816093	GRCh37/hg19 19q13.42(chr19:54701333-55536206)x3	CDC42EP5, FCAR +28 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 253872	GRCh37/hg19 19q13.42(chr19:55392342-55574857)x3	FCAR, GP6 +4 more	Copy number gain	See cases	GUncertain significance
Select item 221404	GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1	LILRB3, CDC42EP5 +32 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221353	chr19:54754752-55624113 complex variant	FCAR, EPS8L1 +28 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 52