ClinVar for Gene (Select 2323) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338165	NM_001459.4(FLT3LG):c.351del (p.Ser118fs)	FLT3LG (S118fs +1 more)	Deletion (frameshift variant)	Immunodeficiency 125	GPathogenic
Select item 3279263	NM_001459.4(FLT3LG):c.282G>A (p.Met94Ile)	FLT3LG (M12I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	ADM5, AKT1S1 +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3095741	NM_001459.4(FLT3LG):c.65C>T (p.Ser22Leu)	FLT3LG (S22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095740	NM_001459.4(FLT3LG):c.632G>A (p.Arg211Gln)	FLT3LG (R211Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095739	NM_001459.4(FLT3LG):c.419C>T (p.Ala140Val)	FLT3LG (A140V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095738	NM_001459.4(FLT3LG):c.298C>G (p.Arg100Gly)	FLT3LG (R100G +1 more)	Single nucleotide variant (missense variant)	not specified	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 2544152	NM_001459.4(FLT3LG):c.611G>A (p.Cys204Tyr)	FLT3LG (C204Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495843	NM_001459.4(FLT3LG):c.5C>T (p.Thr2Ile)	FLT3LG, LOC130064919 (T2I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2402521	NM_001459.4(FLT3LG):c.344C>G (p.Pro115Arg)	FLT3LG (P115R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336716	NM_001459.4(FLT3LG):c.541G>T (p.Ala181Ser)	FLT3LG (A99S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329018	NM_001459.4(FLT3LG):c.242G>A (p.Arg81His)	FLT3LG (R81H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285717	NM_001459.4(FLT3LG):c.299G>A (p.Arg100His)	FLT3LG (R18H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231789	NM_001459.4(FLT3LG):c.254G>A (p.Arg85Gln)	FLT3LG (R3Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	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 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 780580	NM_001459.4(FLT3LG):c.33A>G (p.Thr11=)	FLT3LG, LOC130064919	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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)	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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27