ClinVar for Gene (Select 10332) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145717	NM_014257.5(CLEC4M):c.911T>C (p.Val304Ala)	CLEC4M (V276A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145716	NM_014257.5(CLEC4M):c.813C>A (p.Asp271Glu)	CLEC4M (D271E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3145715	NM_014257.5(CLEC4M):c.809A>G (p.Lys270Arg)	CLEC4M (K214R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145714	NM_014257.5(CLEC4M):c.734C>T (p.Ser245Phe)	CLEC4M (S245F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145713	NM_014257.5(CLEC4M):c.529A>G (p.Lys177Glu)	CLEC4M (K121E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145712	NM_014257.5(CLEC4M):c.403A>G (p.Ile135Val)	CLEC4M (I107V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145710	NM_014257.5(CLEC4M):c.367G>T (p.Val123Leu)	CLEC4M (V123L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145709	NM_014257.5(CLEC4M):c.1178C>T (p.Ala393Val)	CLEC4M (A365V +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3145708	NM_014257.5(CLEC4M):c.1052T>C (p.Phe351Ser)	CLEC4M (F351S +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2649180	NM_014257.5(CLEC4M):c.698A>G (p.Gln233Arg)	CLEC4M (Q177R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2649179	NM_014257.5(CLEC4M):c.627G>A (p.Thr209=)	CLEC4M	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2557091	NM_014257.5(CLEC4M):c.368T>C (p.Val123Ala)	CLEC4M (V123A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555048	NM_014257.5(CLEC4M):c.366A>G (p.Ala122=)	CLEC4M	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2553415	NM_014257.5(CLEC4M):c.916A>G (p.Ile306Val)	CLEC4M (I250V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552436	NM_014257.5(CLEC4M):c.340C>A (p.Gln114Lys)	CLEC4M (Q114K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541247	NM_014257.5(CLEC4M):c.49G>A (p.Glu17Lys)	CLEC4M, LOC117307478 (E17K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2391372	NM_014257.5(CLEC4M):c.235C>A (p.Leu79Ile)	CLEC4M (L79I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386746	NM_014257.5(CLEC4M):c.422G>A (p.Arg141Gln)	CLEC4M (R120Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2228831	NM_014257.5(CLEC4M):c.709G>A (p.Ala237Thr)	CLEC4M (A209T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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
Select item 150535	GRCh38/hg38 19p13.2(chr19:7723086-7883268)x3	CD209, CLEC4G +12 more	Copy number gain	See cases	GLikely benign
Select item 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	LOC130063389, LOC130063390 +75 more	Copy number gain	See cases	GUncertain significance
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 29