FCGRT[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 2384218	NM_001136019.3(FCGRT):c.52C>T (p.Leu18Phe)	FCGRT (L18F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787141	NM_001136019.3(FCGRT):c.126G>T (p.Pro42=)	FCGRT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2477332	NM_001136019.3(FCGRT):c.151G>A (p.Gly51Ser)	FCGRT (G51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 771778	NM_001136019.3(FCGRT):c.396G>C (p.Lys132Asn)	FCGRT (K132N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2269790	NM_001136019.3(FCGRT):c.516C>A (p.Asn172Lys)	FCGRT (N172K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546032	NM_001136019.3(FCGRT):c.548C>G (p.Pro183Arg)	FCGRT (P183R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457448	NM_001136019.3(FCGRT):c.577G>T (p.Gly193Cys)	FCGRT (G193C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263674	NM_001136019.3(FCGRT):c.589C>A (p.Leu197Met)	FCGRT (L197M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542939	NM_001136019.3(FCGRT):c.608C>A (p.Pro203His)	FCGRT (P111H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464076	NM_001136019.3(FCGRT):c.733G>A (p.Gly245Ser)	FCGRT (G153S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248138	NM_001136019.3(FCGRT):c.748G>A (p.Gly250Ser)	FCGRT (G158S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293738	NM_001136019.3(FCGRT):c.810G>C (p.Glu270Asp)	FCGRT (E270D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606355	NM_001136019.3(FCGRT):c.881C>G (p.Ala294Gly)	FCGRT (A202G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385018	NM_001136019.3(FCGRT):c.916G>A (p.Gly306Ser)	FCGRT (G214S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365488	NM_001136019.3(FCGRT):c.986C>G (p.Pro329Arg)	FCGRT (P237R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288073	NM_001136019.3(FCGRT):c.1016A>C (p.Asp339Ala)	FCGRT (D339A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783847	NM_001136019.3(FCGRT):c.1020C>T (p.Thr340=)	FCGRT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2533089	NM_001136019.3(FCGRT):c.1046A>G (p.Glu349Gly)	FCGRT (E257G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534951	NM_001136019.3(FCGRT):c.1048G>A (p.Ala350Thr)	FCGRT (A258T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
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 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	PTOV1-AS2, SLC17A7 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 31