ClinVar for Gene (Select 165530) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267698	NM_173535.3(CLEC4F):c.1093G>C (p.Glu365Gln)	CLEC4F (E365Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267697	NM_173535.3(CLEC4F):c.1148T>C (p.Met383Thr)	CLEC4F (M383T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145703	NM_173535.3(CLEC4F):c.664G>A (p.Ala222Thr)	CLEC4F (A222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145702	NM_173535.3(CLEC4F):c.598T>A (p.Phe200Ile)	CLEC4F (F200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145701	NM_173535.3(CLEC4F):c.394A>G (p.Asn132Asp)	CLEC4F (N132D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145700	NM_173535.3(CLEC4F):c.292G>A (p.Ala98Thr)	CLEC4F (A98T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145699	NM_173535.3(CLEC4F):c.172G>C (p.Val58Leu)	CLEC4F (V58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145698	NM_173535.3(CLEC4F):c.1700T>C (p.Ile567Thr)	CLEC4F (I567T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145697	NM_173535.3(CLEC4F):c.1596G>C (p.Arg532Ser)	CLEC4F (R532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145696	NM_173535.3(CLEC4F):c.1415G>A (p.Gly472Asp)	CLEC4F (G472D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145695	NM_173535.3(CLEC4F):c.118G>A (p.Ala40Thr)	CLEC4F (A40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145694	NM_173535.3(CLEC4F):c.1187G>A (p.Gly396Glu)	CLEC4F (G396E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612342	NM_173535.3(CLEC4F):c.1692G>T (p.Lys564Asn)	CLEC4F (K564N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597023	NM_173535.3(CLEC4F):c.14C>T (p.Ala5Val)	CLEC4F (A5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595108	NM_173535.3(CLEC4F):c.1331G>T (p.Arg444Leu)	CLEC4F (R444L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559230	NM_173535.3(CLEC4F):c.1709C>T (p.Ser570Phe)	CLEC4F (S570F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2493393	NM_173535.3(CLEC4F):c.1510C>A (p.Leu504Met)	CLEC4F (L504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493295	NM_173535.3(CLEC4F):c.185A>C (p.Gln62Pro)	CLEC4F (Q62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484095	NM_173535.3(CLEC4F):c.382G>C (p.Val128Leu)	CLEC4F (V128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471899	NM_173535.3(CLEC4F):c.1205C>G (p.Ala402Gly)	CLEC4F (A402G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469699	NM_173535.3(CLEC4F):c.28A>G (p.Thr10Ala)	CLEC4F (T10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2406012	NM_173535.3(CLEC4F):c.1321G>A (p.Glu441Lys)	CLEC4F (E441K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399031	NM_173535.3(CLEC4F):c.19C>G (p.Arg7Gly)	CLEC4F (R7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382125	NM_173535.3(CLEC4F):c.76G>A (p.Ala26Thr)	CLEC4F (A26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363325	NM_173535.3(CLEC4F):c.112G>A (p.Val38Ile)	CLEC4F (V38I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350152	NM_173535.3(CLEC4F):c.617A>G (p.Glu206Gly)	CLEC4F (E206G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346896	NM_173535.3(CLEC4F):c.1576T>C (p.Trp526Arg)	CLEC4F (W526R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334514	NM_173535.3(CLEC4F):c.537G>C (p.Glu179Asp)	CLEC4F (E179D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323915	NM_173535.3(CLEC4F):c.1690A>G (p.Lys564Glu)	CLEC4F (K564E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308436	NM_173535.3(CLEC4F):c.736A>G (p.Ser246Gly)	CLEC4F (S246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305691	NM_173535.3(CLEC4F):c.553G>A (p.Glu185Lys)	CLEC4F (E185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262502	NM_173535.3(CLEC4F):c.1558A>G (p.Thr520Ala)	CLEC4F (T520A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209687	NM_173535.3(CLEC4F):c.1561A>G (p.Ser521Gly)	CLEC4F (S521G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208281	NM_173535.3(CLEC4F):c.1096A>G (p.Met366Val)	CLEC4F (M366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207173	NM_173535.3(CLEC4F):c.1463A>G (p.Lys488Arg)	CLEC4F (K488R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 775728	NM_173535.3(CLEC4F):c.437A>G (p.Asn146Ser)	CLEC4F (N146S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775727	NM_173535.3(CLEC4F):c.704C>T (p.Thr235Met)	CLEC4F (T235M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775726	NM_173535.3(CLEC4F):c.1106T>C (p.Val369Ala)	CLEC4F (V369A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775725	NM_173535.3(CLEC4F):c.1598G>A (p.Gly533Asp)	CLEC4F (G533D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 52