FCGR3A[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 149802	GRCh38/hg38 1q23.3(chr1:161532006-161605417)x1	FCGR2C, FCGR3A +2 more	Copy number loss	See cases	GLikely benign
Select item 147130	GRCh38/hg38 1q23.3(chr1:161532018-161567694)x1	FCGR3A, LOC129931773 +1 more	Copy number loss	See cases	GBenign
Select item 2552886	NM_000569.8(FCGR3A):c.701G>T (p.Arg234Leu)	FCGR3A (R253L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524839	NM_000569.8(FCGR3A):c.625G>C (p.Val209Leu)	FCGR3A (V209L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304798	NM_000569.8(FCGR3A):c.611C>T (p.Pro204Leu)	FCGR3A (P204L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534950	NM_000569.8(FCGR3A):c.589T>C (p.Ser197Pro)	FCGR3A (S216P +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 225994	NM_000569.8(FCGR3A):c.526T>G (p.Phe176Val)	FCGR3A (F176V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign/Likely benign
Select item 2212560	NM_000569.8(FCGR3A):c.515G>T (p.Cys172Phe)	FCGR3A (C276F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094074	NM_000569.8(FCGR3A):c.494A>G (p.Lys165Arg)	FCGR3A (K165R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539327	NM_000569.8(FCGR3A):c.396G>T (p.Lys132Asn)	FCGR3A (K132N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303166	NM_000569.8(FCGR3A):c.356A>T (p.Lys119Met)	FCGR3A (K223M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094073	NM_000569.8(FCGR3A):c.350T>C (p.Val117Ala)	FCGR3A (V221A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 156331	NM_000569.8(FCGR3A):c.316A>G (p.Ile106Val)	FCGR3A (I106V +3 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2387121	NM_000569.8(FCGR3A):c.298G>A (p.Val100Met)	FCGR3A (V204M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353385	NM_000569.8(FCGR3A):c.238A>G (p.Thr80Ala)	FCGR3A (T79A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402856	NM_000569.8(FCGR3A):c.216G>A (p.Ser72=)	FCGR3A	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 402857	NM_000569.8(FCGR3A):c.197T>G (p.Leu66Arg)	FCGR3A (L66R +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 14828	NM_000569.8(FCGR3A):c.197T>A (p.Leu66His)	FCGR3A (L66H +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 156330	NM_000569.8(FCGR3A):c.194G>A (p.Ser65Asn)	FCGR3A (S65N +3 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1034271	NM_000569.8(FCGR3A):c.145G>A (p.Gly49Arg)	FCGR3A (G49R +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	GUncertain significance
Select item 2517389	NM_000569.8(FCGR3A):c.138G>T (p.Lys46Asn)	FCGR3A (K151N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281678	NM_000569.8(FCGR3A):c.121G>T (p.Asp41Tyr)	FCGR3A (D40Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281554	NM_000569.8(FCGR3A):c.120G>T (p.Lys40Asn)	FCGR3A (K144N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 626106	NM_000569.8(FCGR3A):c.96T>C (p.Pro32=)	FCGR3A	Single nucleotide variant (synonymous variant)	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	GUncertain significance
Select item 3094072	NM_000569.8(FCGR3A):c.44C>T (p.Ser15Leu)	FCGR3A (S120L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688108	NM_000569.8(FCGR3A):c.40+76G>T	FCGR3A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1285002	NM_000569.8(FCGR3A):c.32T>A (p.Leu11Gln)	FCGR3A (L116Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094071	NM_000569.8(FCGR3A):c.28C>G (p.Leu10Val)	FCGR3A (L10V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211746	NM_000569.8(FCGR3A):c.25G>A (p.Ala9Thr)	FCGR3A (A114T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368441	NM_000569.8(FCGR3A):c.-38G>A	FCGR3A (R93Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2372433	NM_000569.8(FCGR3A):c.-50C>T	FCGR3A (P89L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1034274	NM_001127593.1(FCGR3A):c.-62-192T>C	FCGR3A (F21S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	GUncertain significance
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	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 48