30835[geneid] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	LOC130063389, LOC130063390 +75 more	Copy number gain	See cases	GUncertain significance
Select item 150535	GRCh38/hg38 19p13.2(chr19:7723086-7883268)x3	CD209, CLEC4G +12 more	Copy number gain	See cases	GLikely benign
Select item 3140438	NM_021155.4(CD209):c.1196C>G (p.Pro399Arg)	CD209 (P238R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780520	NM_021155.4(CD209):c.1185C>T (p.Ala395=)	CD209	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2242579	NM_021155.4(CD209):c.1135A>G (p.Lys379Glu)	CD209 (K355E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780521	NM_021155.4(CD209):c.1071G>A (p.Ala357=)	CD209	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2269724	NM_021155.4(CD209):c.1057G>A (p.Glu353Lys)	CD209 (E192K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777898	NM_021155.4(CD209):c.993C>T (p.Asp331=)	CD209	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2649172	NM_021155.4(CD209):c.929G>T (p.Ser310Ile)	CD209 (S149I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3039142	NM_021155.4(CD209):c.927A>G (p.Arg309=)	CD209	Single nucleotide variant (synonymous variant +1 more)	CD209-related disorder	GBenign
Select item 750352	NM_021155.4(CD209):c.882C>A (p.Ile294=)	CD209	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3140442	NM_021155.4(CD209):c.842T>C (p.Ile281Thr)	CD209 (I120T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649173	NM_021155.4(CD209):c.731A>G (p.Gln244Arg)	CD209 (Q200R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2649174	NM_021155.4(CD209):c.669G>A (p.Lys223=)	CD209	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3038490	NM_021155.4(CD209):c.662G>A (p.Arg221Gln)	CD209 (R177Q +2 more)	Single nucleotide variant (missense variant +2 more)	CD209-related disorder	GBenign
Select item 625909	NM_021155.4(CD209):c.642G>C (p.Glu214Asp)	CD209 (E214D +2 more)	Single nucleotide variant (missense variant +2 more)	CD209-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3140441	NM_021155.4(CD209):c.641A>G (p.Glu214Gly)	CD209 (E170G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210379	NM_021155.4(CD209):c.635A>T (p.Gln212Leu)	CD209 (Q168L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2649175	NM_021155.4(CD209):c.600G>A (p.Lys200=)	CD209	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2649176	NM_021155.4(CD209):c.593G>A (p.Arg198Gln)	CD209 (R154Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 827974	NM_021155.4(CD209):c.566A>T (p.Gln189Leu)	CD209 (Q145L +2 more)	Single nucleotide variant (missense variant +2 more)	Dengue virus, susceptibility to +2 more	GUncertain significance
Select item 2649177	NM_021155.4(CD209):c.522T>C (p.Thr174=)	CD209	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3140440	NM_021155.4(CD209):c.422C>A (p.Ser141Tyr)	CD209 (S117Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319238	NM_021155.4(CD209):c.394G>T (p.Ala132Ser)	CD209 (A132S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2649178	NM_021155.4(CD209):c.386G>A (p.Arg129Gln)	CD209 (R105Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2610812	NM_021155.4(CD209):c.224A>G (p.Asp75Gly)	CD209 (D51G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140439	NM_021155.4(CD209):c.172G>T (p.Val58Phe)	CD209 (V58F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3140437	NM_021155.4(CD209):c.100T>A (p.Leu34Ile)	CD209 (L34I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3140443	NM_021155.4(CD209):c.97A>G (p.Ser33Gly)	CD209 (S33G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239967	NM_021155.4(CD209):c.38G>T (p.Gly13Val)	CD209, LOC117307477 (G13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 5408	NC_000019.10:g.7747847A>G	CD209, LOC117307477	Single nucleotide variant	Mycobacterium tuberculosis, susceptibility to +2 more	Gprotective; risk factor
Select item 5409	NC_000019.10:g.7748382A>G	CD209, LOC117307477	Single nucleotide variant	Mycobacterium tuberculosis, susceptibility to	Grisk factor
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	ARHGEF18, C3 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 831037	NC_000019.9:g.(?_7587617)_(8373194_?)dup	CCL25, MCOLN1 +24 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 40